William Nyhan

Title(s)Emeritus Professor, Pediatrics
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    GENETIC CONTROL OF HUMAN METABOLISM
    NIH T32DK007318Sep 15, 1978 - Aug 31, 1999
    Role: Principal Investigator
    Center for the Study of the Neural Bases of Language and Learning
    NIH P50NS022343Jun 30, 2014
    Role: Co-Principal Investigator

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP). Nucleosides Nucleotides Nucleic Acids. 2020; 39(6):905-922. Nguyen KV, Naviaux RK, Nyhan WL. PMID: 32312153.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    2. The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation. JIMD Rep. 2020 Jul; 54(1):3-8. Berry GT, Blume ED, Wessel A, Singh T, Hecht L, Marsden D, Sahai I, Elisofon S, Ferguson M, Kim HB, Harris DJ, Demirbas D, Almuqbil M, Nyhan WL. PMID: 32685343; PMCID: PMC7358669.
      View in: PubMed   Mentions: 7  
    3. Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease. Clin Chim Acta. 2019 Dec; 499:13-15. Nyhan WL, McGowan K, Barshop BA. PMID: 31404531.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    4. Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids. 2017 Nov 02; 36(11):704-711. Nguyen KV, Naviaux RK, Nyhan WL. PMID: 29185864.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    5. Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene. Nucleosides Nucleotides Nucleic Acids. 2017 Jul 03; 36(7):452-462. Nguyen KV, Silva S, Troncoso M, Naviaux RK, Nyhan WL. PMID: 28524722.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    6. Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease. Neurosci Lett. 2017 03 16; 643:52-58. Nguyen KV, Nyhan WL. PMID: 28192196.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    7. A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene. Nucleosides Nucleotides Nucleic Acids. 2017 May 04; 36(5):317-327. Nguyen KV, Leydiker K, Wang R, Abdenur J, Nyhan WL. PMID: 28102781.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    8. Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. Nucleosides Nucleotides Nucleic Acids. 2017 Feb; 36(2):151-157. Nguyen KV, Naviaux RK, Nyhan WL. PMID: 28045594.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    9. Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature. JIMD Rep. 2017; 35:23-28. Christy A, Nyhan W, Wilson J. PMID: 27858372; PMCID: PMC5585105.
      View in: PubMed   Mentions: 2  
    10. Hereditary Orotic Aciduria and the Excretion of Orotidine. Neuropediatrics. 2016 Dec; 47(6):408-409. Nyhan WL, Gangoiti JA. PMID: 27574833.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    11. Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome. Nucleosides Nucleotides Nucleic Acids. 2016 Aug 02; 35(8):426-33. Nguyen KV, Nyhan WL. PMID: 27379977.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    12. A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease. Mol Genet Metab. 2016 Apr; 117(4):401-6. Khasnavis T, Reiner G, Sommerfeld B, Nyhan WL, Chipkin R, Jinnah HA. PMID: 26922636.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCTClinical Trials
    13. Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia. JIMD Rep. 2016; 25:87-94. Khanna A, Gish R, Winter SC, Nyhan WL, Barshop BA. PMID: 26219882; PMCID: PMC5059220.
      View in: PubMed   Mentions: 13  
    14. Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper. Curr Protoc Hum Genet. 2015 Jul 01; 86:17.19.1-17.19.10. Auler K, Broock R, Nyhan WL. PMID: 26132002.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    15. Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria. JIMD Rep. 2015; 24:13-20. Gertsman I, Barshop BA, Panyard-Davis J, Gangoiti JA, Nyhan WL. PMID: 25665838; PMCID: PMC4582031.
      View in: PubMed   Mentions: 10  
    16. Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome. Mol Genet Metab. 2015 Mar; 114(3):431-7. Gertsman I, Gangoiti JA, Nyhan WL, Barshop BA. PMID: 25680927.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    17. Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene. Nucleosides Nucleotides Nucleic Acids. 2015; 34(6):442-7. Nguyen KV, Nyhan WL. PMID: 25965333.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    18. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab. 2014 Jan; 111(1):16-25. Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A. PMID: 24268530.
      View in: PubMed   Mentions: 40     Fields:    Translation:Humans
    19. Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease. J Am Soc Nephrol. 2013 Nov; 24(11):1901-12. Sharma K, Karl B, Mathew AV, Gangoiti JA, Wassel CL, Saito R, Pu M, Sharma S, You YH, Wang L, Diamond-Stanic M, Lindenmeyer MT, Forsblom C, Wu W, Ix JH, Ideker T, Kopp JB, Nigam SK, Cohen CD, Groop PH, Barshop BA, Natarajan L, Nyhan WL, Naviaux RK. PMID: 23949796; PMCID: PMC3810086.
      View in: PubMed   Mentions: 277     Fields:    Translation:Humans
    20. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain. 2014 May; 137(Pt 5):1282-303. Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JG, O'Neill PJ, Jinnah HA, Lesch-Nyhan Disease International Study Group. PMID: 23975452; PMCID: PMC3999711.
      View in: PubMed   Mentions: 43     Fields:    Translation:HumansAnimals
    21. Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients. Nucleosides Nucleotides Nucleic Acids. 2013; 32(4):174-88. Dolcetta D, Parmigiani P, Salmaso L, Bernardelle R, Cesari U, Andrighetto G, Baschirotto G, Nyhan WL, Hladnik U. PMID: 24001191.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCTClinical Trials
    22. Identification of novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids. 2013; 32(3):155-60. Nguyen KV, Nyhan WL. PMID: 23473102.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    23. On being a Doctor... "and describe a disease not previously reported, Lesch--Nyhan disease". Rev Clin Esp. 2012 Oct; 212(9):462-4. Nyhan WL. PMID: 23227468.
      View in: PubMed   Mentions:    Fields:    
    24. Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA. Mol Genet Metab. 2012 Aug; 106(4):498-501. Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. PMID: 22766437.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    25. Long-term follow-up of four patients affected by HHH syndrome. Clin Chim Acta. 2012 Jul 11; 413(13-14):1151-5. Kim SZ, Song WJ, Nyhan WL, Ficicioglu C, Mandell R, Shih VE. PMID: 22465082.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    26. Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members. Nucleosides Nucleotides Nucleic Acids. 2012; 31(8):616-29. Nguyen KV, Naviaux RK, Paik KK, Nakayama T, Nyhan WL. PMID: 22908952.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    27. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet. 2011 Aug 14; 43(9):883-6. Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, NIH Intramural Sequencing Center Group, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP. PMID: 21841779; PMCID: PMC3163731.
      View in: PubMed   Mentions: 49     Fields:    Translation:HumansCells
    28. Novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids. 2011 Jun; 30(6):440-5. Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. PMID: 21780909.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    29. Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Mol Genet Metab. 2011 Feb; 102(2):218-21. Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL. PMID: 21071250.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    30. Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers. Mutat Res. 2010 Oct 13; 692(1-2):1-5. de Gemmis P, Anesi L, Lorenzetto E, Gioachini I, Fortunati E, Zandonà G, Fanin E, Fairbanks L, Andrighetto G, Parmigiani P, Dolcetta D, Nyhan WL, Hladnik U. PMID: 20638392.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    31. Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members. Arch Neurol. 2010 Jun; 67(6):761-4. Sarafoglou K, Grosse-Redlinger K, Boys CJ, Charnas L, Otten N, Broock R, Nyhan WL. PMID: 20558399.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    32. Attenuated variants of Lesch-Nyhan disease. Brain. 2010 Mar; 133(Pt 3):671-89. Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG, Lesch-Nyhan Disease International Study Group. PMID: 20176575; PMCID: PMC2842514.
      View in: PubMed   Mentions: 47     Fields:    Translation:Humans
    33. Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S79-82. Nyhan WL, Willis M, Barshop BA, Gangoiti J. PMID: 19357990.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansPHPublic Health
    34. The effects of alanine ingestion on metabolic responses to exercise in cyclists. Amino Acids. 2009 Oct; 37(4):673-80. Klein J, Nyhan WL, Kern M. PMID: 18850309.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    35. 'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'. Dev Med Child Neurol. 2008 Nov; 50(11):880-1. Crutchfield SR, Haas RH, Nyhan WL, Gibson KM. PMID: 18811705; PMCID: PMC2668832.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    36. Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Arch Neurol. 2008 Sep; 65(9):1240-3. Hladnik U, Nyhan WL, Bertelli M. PMID: 18779430.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    37. CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab. 2008 Aug; 94(4):422-427. Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR, Tein I, Vladutiu GD. PMID: 18550408.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    38. Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids. 2008 Jun; 27(6):559-63. Nyhan WL. PMID: 18600504.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    39. Fatal initial adult-onset presentation of urea cycle defect. Arch Neurol. 2007 Dec; 64(12):1777-9. Lien J, Nyhan WL, Barshop BA. PMID: 18071043.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    40. 3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. Saudi Med J. 2006 May; 27(5):732-3. Al-Odaib A, Rashed M, Page T, Nyhan W, Ozand PT. PMID: 16680273.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    41. Domino liver transplantation in maple syrup urine disease. Liver Transpl. 2006 May; 12(5):876-82. Khanna A, Hart M, Nyhan WL, Hassanein T, Panyard-Davis J, Barshop BA. PMID: 16628687.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    42. Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. Clin Chem. 2006 Jun; 52(6):1127-37. Hartmann S, Okun JG, Schmidt C, Langhans CD, Garbade SF, Burgard P, Haas D, Sass JO, Nyhan WL, Hoffmann GF. PMID: 16613999.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    43. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006 May; 129(Pt 5):1201-17. Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I, Gonzalez-Alegre P, Neychev V, Torres RJ, Dulac O, Desguerre I, Schretlen DJ, Robey KL, Barabas G, Bloem BR, Nyhan W, De Kremer R, Eddey GE, Puig JG, Reich SG, Lesch-Nyhan Disease International Study Group. PMID: 16549399; PMCID: PMC3508431.
      View in: PubMed   Mentions: 86     Fields:    Translation:Humans
    44. Behavioral aspects of Lesch-Nyhan disease and its variants. Dev Med Child Neurol. 2005 Oct; 47(10):673-7. Schretlen DJ, Ward J, Meyer SM, Yun J, Puig JG, Nyhan WL, Jinnah HA, Harris JC. PMID: 16174310.
      View in: PubMed   Mentions: 34     Fields:    Translation:Humans
    45. Disorders of purine and pyrimidine metabolism. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):25-33. Nyhan WL. PMID: 16176880.
      View in: PubMed   Mentions: 81     Fields:    Translation:Humans
    46. Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines. J Neurochem. 2005 Jun; 93(6):1579-86. Pinto CS, Jinnah HA, Shirley TL, Nyhan WL, Seifert R. PMID: 15935074.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    47. Lesch-Nyhan Disease. J Hist Neurosci. 2005 Mar; 14(1):1-10. Nyhan WL. PMID: 15804753.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    48. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. Mol Genet Metab. 2005 May; 85(1):70-7. De Gregorio L, Jinnah HA, Harris JC, Nyhan WL, Schretlen DJ, Trombley LM, O'Neill JP. PMID: 15862283.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    49. Inherited hyperuricemic disorders. Contrib Nephrol. 2005; 147:22-34. Nyhan WL. PMID: 15604603.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    50. The spectrum of mutations causing HPRT deficiency: an update. Nucleosides Nucleotides Nucleic Acids. 2004 Oct; 23(8-9):1153-60. Jinnah HA, Harris JC, Nyhan WL, O'Neill JP. PMID: 15571220.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    51. Chronic treatment of mitochondrial disease patients with dichloroacetate. Mol Genet Metab. 2004 Sep-Oct; 83(1-2):138-49. Barshop BA, Naviaux RK, McGowan KA, Levine F, Nyhan WL, Loupis-Geller A, Haas RH. PMID: 15464428.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCTClinical Trials
    52. The role of methionine in ethylmalonic encephalopathy with petechiae. Arch Neurol. 2004 Apr; 61(4):570-4. McGowan KA, Nyhan WL, Barshop BA, Naviaux RK, Yu A, Haas RH, Townsend JJ. PMID: 15096407.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    53. Prenatal diagnosis of Lesch-Nyhan disease. Prenat Diagn. 2003 Oct; 23(10):807-9. Nyhan WL, Vuong LU, Broock R. PMID: 14558024.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    54. Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 15; 792(1):123-30. Ohdoi C, Nyhan WL, Kuhara T. PMID: 12829005.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    55. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report. Southeast Asian J Trop Med Public Health. 2003; 34 Suppl 3:186-8. Capistrano-Estrada SB, Nyhan WL. PMID: 15906733.
      View in: PubMed   Mentions:    Fields:    Translation:HumansPHPublic Health
    56. Emergency management of inherited metabolic diseases. J Inherit Metab Dis. 2002 Nov; 25(7):531-46. Prietsch V, Lindner M, Zschocke J, Nyhan WL, Hoffmann GF. PMID: 12638937.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    57. Pyruvate carboxylase deficiency--insights from liver transplantation. Mol Genet Metab. 2002 Sep-Oct; 77(1-2):143-9. Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH. PMID: 12359142.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    58. Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. Hum Genet. 2002 Aug; 111(2):179-89. Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, Saudubray JM, Rostane H, Djouadi F, Wilcox W, Cederbaum S, Haas R, Nyhan WL, Green A, Gray G, Girard J, Thuillier L. PMID: 12189492.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    59. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur J Pediatr. 2002 Jul; 161(7):377-9. Nyhan WL, Gargus JJ, Boyle K, Selby R, Koch R. PMID: 12111189.
      View in: PubMed   Mentions: 33     Fields:    Translation:Humans
    60. Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation. Eur J Pediatr. 2001 Oct; 160(10):599-602. Marsden D, Nyhan WL, Barshop BA. PMID: 11686503.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    61. Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency. J Inherit Metab Dis. 2001 Aug; 24(4):513-4. Barshop BA, Nyhan WL, Climent C, Rubio V. PMID: 11596657.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    62. Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate. Muscle Nerve. 2001 Jul; 24(7):916-24. Spruijt L, Naviaux RK, McGowan KA, Nyhan WL, Sheean G, Haas RH, Barshop BA. PMID: 11410919.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCellsCTClinical Trials
    63. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. Hum Mol Genet. 2001 Jun 01; 10(12):1299-306. Holzinger A, Röschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, Thuy LP, Nyhan WL, Koch HG, Muntau AC, Roscher AA. PMID: 11406611.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    64. Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. Arch Neurol. 2001 May; 58(5):811-4. Bodman M, Smith D, Nyhan WL, Naviaux RK. PMID: 11346377.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    65. Self-injurious behavior: gene-brain-behavior relationships. Ment Retard Dev Disabil Res Rev. 2001; 7(1):3-12. Schroeder SR, Oster-Granite ML, Berkson G, Bodfish JW, Breese GR, Cataldo MF, Cook EH, Crnic LS, DeLeon I, Fisher W, Harris JC, Horner RH, Iwata B, Jinnah HA, King BH, Lauder JM, Lewis MH, Newell K, Nyhan WL, Rojahn J, Sackett GP, Sandman C, Symons F, Tessel RE, Thompson T, Wong DF. PMID: 11241877.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansAnimals
    66. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res. 2000 Oct; 463(3):309-26. Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP. PMID: 11018746.
      View in: PubMed   Mentions: 67     Fields:    Translation:HumansCells
    67. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect. 2000 Jun; 108 Suppl 3:409-11. Nyhan WL. PMID: 10852837; PMCID: PMC1637829.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    68. An unexpected affected female patient in a classical Lesch-Nyhan family. Mol Genet Metab. 2000 Mar; 69(3):263-8. De Gregorio L, Nyhan WL, Serafin E, Chamoles NA. PMID: 10767182.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    69. Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. Mol Genet Metab. 2000 Jan; 69(1):64-8. Barshop BA, Nyhan WL, Naviaux RK, McGowan KA, Friedlander M, Haas RH. PMID: 10655159.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    70. Sensitive assay for mitochondrial DNA polymerase gamma. Clin Chem. 1999 Oct; 45(10):1725-33. Naviaux RK, Markusic D, Barshop BA, Nyhan WL, Haas RH. PMID: 10508117.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    71. Neurologic nonmetabolic presentation of propionic acidemia. Arch Neurol. 1999 Sep; 56(9):1143-7. Nyhan WL, Bay C, Beyer EW, Mazi M. PMID: 10488817.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    72. Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment. Clin Chim Acta. 1999 Jun 15; 284(1):59-68. Thuy LP, Jurecki E, Nemzer L, Nyhan WL. PMID: 10437643.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    73. 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. J Inherit Metab Dis. 1999 Jun; 22(4):414-27. Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM. PMID: 10407778.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansAnimalsCells
    74. Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria. Mol Genet Metab. 1999 Mar; 66(3):199-204. Nyhan WL, Zschocke J, Hoffmann G, Stein DE, Bao L, Goodman S. PMID: 10066389.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    75. Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. Prenat Diagn. 1999 Feb; 19(2):108-12. Thuy LP, Belmont J, Nyhan WL. PMID: 10215065.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    76. D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol. 1999 Jan; 45(1):111-9. van der Knaap MS, Jakobs C, Hoffmann GF, Nyhan WL, Renier WO, Smeitink JA, Catsman-Berrevoets CE, Hjalmarson O, Vallance H, Sugita K, Bowe CM, Herrin JT, Craigen WJ, Buist NR, Brookfield DS, Chalmers RA. PMID: 9894884.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    77. Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol. 1999 Jan; 45(1):54-8. Naviaux RK, Nyhan WL, Barshop BA, Poulton J, Markusic D, Karpinski NC, Haas RH. PMID: 9894877.
      View in: PubMed   Mentions: 59     Fields:    Translation:HumansCells
    78. Analysis of organic acids, amino acids, and carnitine in dogs with lipid storage myopathy. Muscle Nerve. 1998 Sep; 21(9):1202-5. Shelton GD, Nyhan WL, Kass PH, Barshop BA, Haas RH. PMID: 9703448.
      View in: PubMed   Mentions: 2     Fields:    Translation:Animals
    79. NTBC and alkaptonuria. Am J Hum Genet. 1998 Sep; 63(3):920-1. Anikster Y, Nyhan WL, Gahl WA. PMID: 9718357; PMCID: PMC1377415.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    80. Identification of a familial mutation associated with GABA-transaminase deficiency disease. Neurobiol Dis. 1998 Aug; 5(2):89-96. Medina-Kauwe LK, Nyhan WL, Gibson KM, Tobin AJ. PMID: 9746906.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    81. Treatment of the acute crisis in maple syrup urine disease. Arch Pediatr Adolesc Med. 1998 Jun; 152(6):593-8. Nyhan WL, Rice-Kelts M, Klein J, Barshop BA. PMID: 9641714.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    82. A syndrome of seizures and pervasive developmental disorder associated with excessive cellular nucleotidase activity. Adv Exp Med Biol. 1998; 431:789-92. Page T, Yu A, Fontenessi J, Nyhan W. PMID: 9598171.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    83. Developmental disorder associated with increased cellular nucleotidase activity. Proc Natl Acad Sci U S A. 1997 Oct 14; 94(21):11601-6. Page T, Yu A, Fontanesi J, Nyhan WL. PMID: 9326656; PMCID: PMC23552.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCellsCTClinical Trials
    84. The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. J Inherit Metab Dis. 1997 Jun; 20(2):171-8. Nyhan WL. PMID: 9211189.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    85. Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy. Metab Brain Dis. 1996 Sep; 11(3):239-47. Podell M, Shelton GD, Nyhan WL, Wagner SO, Genders A, Oglesbee M, Fenner WR. PMID: 8869944; PMCID: PMC7089197.
      View in: PubMed   Mentions: 7     Fields:    Translation:AnimalsCells
    86. New approaches to understanding Lesch-Nyhan disease. N Engl J Med. 1996 Jun 13; 334(24):1602-4. Nyhan WL, Wong DF. PMID: 8628345.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    87. Late-onset holocarboxylase synthetase deficiency. J Inherit Metab Dis. 1996; 19(6):739-42. Gibson KM, Bennett MJ, Nyhan WL, Mize CE. PMID: 8982946.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    88. L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis. 1996; 19(3):335-43. Chen E, Nyhan WL, Jakobs C, Greco CM, Barkovich AJ, Cox VA, Packman S. PMID: 8803777.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    89. Down syndrome and recurrent abortions resulting from Robertsonian translocation 21q21q. Ann Saudi Med. 1995 Jul; 15(4):391-2. Al-Alaiyan S, Al-Omran H, Kattan H, Sakati N, Nyhan WL. PMID: 17590614.
      View in: PubMed   Mentions: 2     Fields:    
    90. D-2-hydroxyglutaric aciduria. J Child Neurol. 1995 Mar; 10(2):137-42. Nyhan WL, Shelton GD, Jakobs C, Holmes B, Bowe C, Curry CJ, Vance C, Duran M, Sweetman L. PMID: 7782605.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimals
    91. Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions. J Child Neurol. 1995 Jan; 10(1):25-30. Hamilton RL, Haas RH, Nyhan WL, Powell HC, Grafe MR. PMID: 7769173.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    92. Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria. J Inherit Metab Dis. 1995; 18(2):189-93. Hoffmann GF, Jakobs C, Holmes B, Mitchell L, Becker G, Hartung HP, Nyhan WL. PMID: 7564243.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    93. Acute basal ganglia infarction in propionic acidemia. J Child Neurol. 1995 Jan; 10(1):18-22. Haas RH, Marsden DL, Capistrano-Estrada S, Hamilton R, Grafe MR, Wong W, Nyhan WL. PMID: 7769171.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    94. Malonic aciduria. Brain Dev. 1994 Nov; 16 Suppl:7-11. Ozand PT, Nyhan WL, al Aqeel A, Christodoulou J. PMID: 7537025.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    95. Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. Am J Med Genet. 1994 Sep 01; 52(3):334-8. Marsden D, Nyhan WL, Sakati NO. PMID: 7810565.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    96. Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways. Biochem Med Metab Biol. 1994 Aug; 52(2):145-54. Marsden D, Barshop BA, Capistrano-Estrada S, Rice M, Prodanos C, Sartoris D, Wolff J, Jones KL, Spector S, Nyhan WL. PMID: 7993663.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    97. Supplementation of an elemental enteral diet with alanyl-glutamine decreases bacterial translocation in burned mice. Burns. 1994 Jun; 20(3):220-5. Tenenhaus M, Hansbrough JF, Zapata-Sirvent RL, Ohara M, Nyhan W. PMID: 8054133.
      View in: PubMed   Mentions: 2     Fields:    Translation:AnimalsCells
    98. Bacterial translocation in burned mice after administration of various diets including fiber- and glutamine-enriched enteral formulas. Crit Care Med. 1994 Apr; 22(4):690-6. Zapata-Sirvent RL, Hansbrough JF, Ohara MM, Rice-Asaro M, Nyhan WL. PMID: 8143479.
      View in: PubMed   Mentions: 10     Fields:    Translation:AnimalsCells
    99. Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency. Pediatr Pathol. 1994 Mar-Apr; 14(2):235-43. Capistrano-Estrada S, Marsden DL, Nyhan WL, Newbury RO, Krous HF, Tuchman M. PMID: 8008687.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    100. Treatment of Lesch-Nyhan syndrome with AICAR. Adv Exp Med Biol. 1994; 370:353-6. Page T, Barshop B, Yu AL, Nyhan WL. PMID: 7660927.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    101. Neurological manifestations of organic acid disorders. Eur J Pediatr. 1994; 153(7 Suppl 1):S94-100. Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D. PMID: 7957396.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    102. High voltage electrophoresis of amino acids in urine containing ampicillin. Clin Biochem. 1993 Oct; 26(5):389-90. Thuy LP, Nyhan WL. PMID: 8299209.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    103. Carnitine in adolescents. J Adolesc Health. 1993 Sep; 14(6):440-1. Buchta R, Nyhan WL, Broock R, Schragg P. PMID: 8241199.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    104. Quantitative organic acid analysis in cerebrospinal fluid and plasma: reference values in a pediatric population. J Chromatogr. 1993 Jul 23; 617(1):1-10. Hoffmann GF, Seppel CK, Holmes B, Mitchell L, Christen HJ, Hanefeld F, Rating D, Nyhan WL. PMID: 8376520.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    105. Use of a thick-film capillary column for the analysis of organic acids in body fluids. J Chromatogr. 1993 May 19; 615(1):127-35. Meier-Augenstein W, Hoffmann GF, Holmes B, Jones JL, Nyhan WL, Sweetman L. PMID: 8340451.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    106. Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia. Pediatrics. 1993 Mar; 91(3):664-6. Tuchman M, Berry SA, Thuy LP, Nyhan WL. PMID: 8441580.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    107. Cerebral metabolic change after treatment in biotinidase deficiency. J Inherit Metab Dis. 1993; 16(2):399-407. Lott IT, Lottenberg S, Nyhan WL, Buchsbaum MJ. PMID: 8412000.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    108. Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism? J Inherit Metab Dis. 1993; 16(3):563-7. Gibson KM, Lee CF, Bennett MJ, Holmes B, Nyhan WL. PMID: 7609453.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    109. Physiology and pathophysiology of organic acids in cerebrospinal fluid. J Inherit Metab Dis. 1993; 16(4):648-69. Hoffmann GF, Meier-Augenstein W, Stöckler S, Surtees R, Rating D, Nyhan WL. PMID: 8412012.
      View in: PubMed   Mentions: 65     Fields:    Translation:HumansAnimals
    110. An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. Am J Dis Child. 1992 Dec; 146(12):1459-62. Marsden D, Sege-Petersen K, Nyhan WL, Roschinger W, Sweetman L. PMID: 1456259.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    111. A new quantitative assay for glycosaminoglycans. Clin Chim Acta. 1992 Nov 16; 212(1-2):17-26. Thuy LP, Nyhan WL. PMID: 1486678.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    112. Histidinuria: defective transport of histidine. Am J Med Genet. 1992 Nov 15; 44(5):558-61. Nyhan WL, Hilton S. PMID: 1481808.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    113. A screening method for cystine and homocystine in urine. Clin Chim Acta. 1992 Oct 30; 211(3):175-9. Thuy LP, Nyhan WL. PMID: 1458612.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    114. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. Hum Mol Genet. 1992 Sep; 1(6):427-32. Sege-Peterson K, Chambers J, Page T, Jones OW, Nyhan WL. PMID: 1301916.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    115. Hawkinsinuria in two families. Am J Med Genet. 1992 Sep 01; 44(1):52-6. Borden M, Holm J, Leslie J, Sweetman L, Nyhan WL, Fleisher L, Nadler H, Lewis D, Scott CR. PMID: 1519651.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    116. Neurological diseases in disorders of organic acids. Curr Opin Neurol Neurosurg. 1992 Jun; 5(3):349-54. Marsden DL, Nyhan WL. PMID: 1623263.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    117. A new immunochemical assay for biotin. Clin Chim Acta. 1991 Oct 31; 202(3):191-7. Thuy LP, Sweetman L, Nyhan WL. PMID: 1814646.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    118. 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism. Pediatr Res. 1991 Oct; 30(4):322-6. Ko FJ, Nyhan WL, Wolff J, Barshop B, Sweetman L. PMID: 1956714.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    119. Osteodysplastic variant of primordial dwarfism. Am J Med Genet. 1991 Aug 01; 40(2):146-50. Shebib S, Hugosson C, Sakati N, Nyhan WL. PMID: 1897566.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    120. Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism. Pediatr Res. 1991 Jul; 30(1):15-22. Barshop BA, Yoshida I, Ajami A, Sweetman L, Wolff JA, Sweetman FR, Prodanos C, Smith M, Nyhan WL. PMID: 1909779.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    121. Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection. Clin Chim Acta. 1991 May 15; 198(3):209-27. Hoffmann GF, Sweetman L, Bremer HJ, Hunneman DH, Hyánek J, Kozich V, Lehnert W, Nyhan WL, Speidel I, Trefz FK, et al. PMID: 1653652.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    122. A syndrome of megaloblastic anemia, immunodeficiency, and excessive nucleotide degradation. Adv Exp Med Biol. 1991; 309B:345-8. Page T, Nyhan WL, Yu AL, Yu J. PMID: 1781393.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    123. Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency. J Inherit Metab Dis. 1991; 14(1):63-74. Aramaki S, Lehotay D, Sweetman L, Nyhan WL, Winter SC, Middleton B. PMID: 1861461.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    124. Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins. Am J Med Genet. 1990 Dec; 37(4):516-8. Nazer H, Gunasekaran TS, Sakati NA, Nyhan WL. PMID: 2260598.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    125. Cytochrome c oxidase deficiency in muscle with dicarboxylic aciduria and renal tubular acidosis. J Child Neurol. 1990 Apr; 5(2):147-52. Pintos-Morell G, Haas R, Prodanos C, DiMauro S, Nyhan WL. PMID: 2161032.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    126. 3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium. J Lipid Res. 1990 Mar; 31(3):515-21. Gibson KM, Hoffmann G, Schwall A, Broock RL, Aramaki S, Sweetman L, Nyhan WL, Brandt IK, Wappner RS, Lehnert W, et al. PMID: 2160511.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansAnimalsCells
    127. Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria. Biomed Environ Mass Spectrom. 1990 Feb; 19(2):89-93. Gibson KM, Aramaki S, Sweetman L, Nyhan WL, DeVivo DC, Hodson AK, Jakobs C. PMID: 2407302.
      View in: PubMed   Mentions: 39     Fields:    Translation:Humans
    128. Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. Am J Med Genet. 1990 Feb; 35(2):222-8. Barshop BA, Wolff J, Nyhan WL, Yu A, Prodanos C, Jones G, Sweetman L, Leslie J, Holm J, Green R, et al. PMID: 2309761.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    129. Structural abnormalities. A systematic approach to diagnosis. Clin Symp. 1990; 42(2):1-32. Nyhan WL. PMID: 2192827.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    130. Effect of lipoic acid in a patient with defective activity of pyruvate dehydrogenase, 2-oxoglutarate dehydrogenase, and branched-chain keto acid dehydrogenase. Pediatr Res. 1990 Jan; 27(1):75-9. Yoshida I, Sweetman L, Kulovich S, Nyhan WL, Robinson BH. PMID: 2104971.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    131. Duplication of 16q and deletion of 15q. Am J Med Genet. 1989 Oct; 34(2):183-6. Nyhan WL, Mascarello J, Barshop B, Doroski D, Hirschhorn K. PMID: 2816995.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    132. 3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection. Clin Chim Acta. 1989 Sep 15; 184(1):57-64. Narisawa K, Gibson KM, Sweetman L, Nyhan WL. PMID: 2480857.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    133. Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res. 1989 Aug; 26(2):140-4. Wolff JA, Barshop B, Nyhan WL, Leslie J, Seegmiller JE, Gruber H, Garst M, Winter S, Michals K, Matalon R. PMID: 2771520.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    134. Deficiency of carnitine palmitoyltransferase I. J Child Neurol. 1989 Jul; 4(3):198-203. Bonnefont JP, Haas R, Wolff J, Thuy LP, Buchta R, Carroll JE, Saudubray JM, Demaugre F, Nyhan WL. PMID: 2768784.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    135. Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis. Clin Chem. 1989 Apr; 35(4):587-95. Hoffmann G, Aramaki S, Blum-Hoffmann E, Nyhan WL, Sweetman L. PMID: 2702744.
      View in: PubMed   Mentions: 51     Fields:    Translation:Humans
    136. Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. AJNR Am J Neuroradiol. 1989 Mar-Apr; 10(2):315-21. Press GA, Barshop BA, Haas RH, Nyhan WL, Glass RF, Hesselink JR. PMID: 2494850; PMCID: PMC8331367.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    137. Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia. J Inherit Metab Dis. 1989; 12(1):72-9. Barshop BA, Breuer J, Holm J, Leslie J, Nyhan WL. PMID: 2501586.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    138. The spectrum of HPRT deficiency: an update. Adv Exp Med Biol. 1989; 253A:129-33. Page T, Nyhan WL. PMID: 2624181.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    139. Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria. Enzyme. 1989; 41(1):47-55. Gibson KM, Lohr JL, Broock RL, Hoffmann G, Nyhan WL, Sweetman L, Brandt IK, Wappner RS, Bader PI. PMID: 2543551.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    140. Metabolic correlates of learning disability. Birth Defects Orig Artic Ser. 1989; 25(6):153-69. Nyhan WL, Wulfeck BB, Tallal P, Marsden DL. PMID: 2605319.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    141. Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia. J Inherit Metab Dis. 1989; 12(1):86-8. Aramaki S, Lehotay D, Nyhan WL, MacLeod PM, Sweetman L. PMID: 2501588.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    142. Metabolism of [U-14C]-4-hydroxybutyric acid to intermediates of the tricarboxylic acid cycle in extracts of rat liver and kidney mitochondria. Eur J Drug Metab Pharmacokinet. 1989 Jan-Mar; 14(1):61-70. Gibson KM, Nyhan WL. PMID: 2759135.
      View in: PubMed   Mentions: 5     Fields:    Translation:AnimalsCells
    143. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. Eur J Pediatr. 1988 Dec; 148(3):180-6. Gibson KM, Breuer J, Nyhan WL. PMID: 3063529.
      View in: PubMed   Mentions: 35     Fields:    Translation:Humans
    144. Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. Eur J Pediatr. 1988 Dec; 148(3):250-2. Gibson KM, Hoffmann G, Nyhan WL, Sweetman L, Berger R, le Coultre R, Smit GP. PMID: 2850914.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    145. Oxidation of [U-14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria. Pediatr Res. 1988 Oct; 24(4):455-60. Pattarelli PP, Nyhan WL, Gibson KM. PMID: 3140205.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    146. 3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal. Eur J Pediatr. 1988 Oct; 148(1):76-82. Gibson KM, Nyhan WL, Sweetman L, Narisawa K, Lehnert W, Divry P, Robinson BH, Roth KS, Beemer FA, van Sprang FJ, et al. PMID: 3197737.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    147. 4-Hydroxybutyric aciduria in a patient without ataxia or convulsions. Eur J Pediatr. 1988 Jun; 147(5):529-31. Gibson KM, Hoffmann G, Nyhan WL, Aramaki S, Thompson JA, Goodman SI, Johnson DA, Fife RR. PMID: 3409929.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    148. Variability of the Holt-Oram syndrome in Saudi individuals. Am J Med Genet. 1988 Apr; 29(4):851-5. Najjar H, Mardini M, Tabbaa R, Nyhan WL. PMID: 3400729.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    149. Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts. J Inherit Metab Dis. 1988; 11 Suppl 2:229-32. Hoffmann G, Gibson KM, Nyhan WL, Sweetman L. PMID: 2846965.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    150. Multiple carboxylase deficiency. Int J Biochem. 1988; 20(4):363-70. Nyhan WL. PMID: 3284772.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    151. Cystic fibrosis. West J Med. 1988 Jan; 148(1):62-9. Harwood I, Rosas F, Edwards DK, Kelso J, Nyhan WL. PMID: 3277338; PMCID: PMC1026012.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    152. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients. J Inherit Metab Dis. 1988; 11(1):76-87. Gibson KM, Breuer J, Kaiser K, Nyhan WL, McCoy EE, Ferreira P, Greene CL, Blitzer MG, Shapira E, Reverte F, et al. PMID: 3128690.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    153. Inborn errors of biotin metabolism. Arch Dermatol. 1987 Dec; 123(12):1696-1698a. Nyhan WL. PMID: 3318710.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    154. Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation. J Pediatr. 1987 Oct; 111(4):538-43. Hoyme HE, Jones KL, Nyhan WL, Pauli RM, Robinow M. PMID: 3655984.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    155. Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases. J Pediatr. 1987 Jun; 110(6):873-7. Hayasaka K, Tada K, Fueki N, Nakamura Y, Nyhan WL, Schmidt K, Packman S, Seashore MR, Haan E, Danks DM, et al. PMID: 3585602.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    156. Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. Pediatrics. 1987 May; 79(5):713-7. Page T, Nyhan WL, Morena de Vega V. PMID: 3575027.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    157. Pharmacologic amino acid acylation in the acute hyperammonemia of propionic acidemia. J Neurogenet. 1987 Apr; 4(2-3):87-96. Petrowski S, Nyhan WL, Reznik V, Sweetman L, Kulovich S, Wolff J, Jones G. PMID: 3598771.
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    158. Synergistic activity of purine metabolism inhibitors in cultured human tumor cells. Cancer Lett. 1987 Apr; 35(1):97-104. Jacobsen SJ, Page T, Diala ES, Nyhan WL, Robins RK, Mangum JH. PMID: 3567890.
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    159. Metabolism of leucine in fibroblasts with defects in the leucine catabolic pathway. Int J Biochem. 1987; 19(8):713-6. Page T, Nyhan WL. PMID: 3622904.
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    160. Non-ketotic hyperglycinaemia: prenatal diagnosis and detection of heterozygotes with glycine/serine ratios. J Inherit Metab Dis. 1987; 10(2):198-9. Jordá A, Portolés M, Bonilla-Musoles F, Sweetman L, Nyhan WL. PMID: 3116341.
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    161. Multiple carboxylase deficiency due to deficiency of biotinidase. J Neurogenet. 1986 Nov; 3(6):357-63. Thuy LP, Zielinska B, Zammarchi E, Pavari E, Vierucci A, Sweetman F, Sweetman L, Nyhan WL. PMID: 3783319.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    162. Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency. Pediatr Neurol. 1986 Sep-Oct; 2(5):302-4. Hersh JH, Page T, Hand ME, Seegmiller JE, Nyhan WL, Weisskopf B. PMID: 3508703.
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    163. Intussusception. West J Med. 1986 Jun; 144(6):722-7. Nyhan WL, Wilson N, Powers NG, Zwass M, Hilton S, Spector S, Albert D, Juarez P, Kaufman IA. PMID: 3727531; PMCID: PMC1306755.
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    164. The effectiveness of benzoate in the management of seizures in nonketotic hyperglycinemia. Am J Dis Child. 1986 Jun; 140(6):596-602. Wolff JA, Kulovich S, Yu AL, Qiao CN, Nyhan WL. PMID: 3706242.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    165. Activity of biotin-dependent and GABA metabolizing enzymes in chorionic villus samples: potential for 1st trimester prenatal diagnosis. Prenat Diagn. 1986 May-Jun; 6(3):187-94. Sweetman FR, Gibson KM, Sweetman L, Nyhan WL, Chin H, Swartz W, Jones OW. PMID: 3725738.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    166. Myopathy in an infant with a fatal peroxisomal disorder. Pediatr Neurol. 1986 May-Jun; 2(3):141-6. Wolff J, Nyhan WL, Powell H, Takahashi D, Hutzler J, Hajra AK, Datta NS, Singh I, Moser HW. PMID: 3508688.
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    167. Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria. J Clin Invest. 1986 Apr; 77(4):1148-52. Narisawa K, Gibson KM, Sweetman L, Nyhan WL, Duran M, Wadman SK. PMID: 3082934; PMCID: PMC424450.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimals
    168. 3-Ketothiolase deficiency. Eur J Pediatr. 1986 Apr; 144(6):586-9. Middleton B, Bartlett K, Romanos A, Gomez Vazquez J, Conde C, Cannon RA, Lipson M, Sweetman L, Nyhan WL. PMID: 3709573.
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    169. Use of selective media for distinguishing variant forms of hypoxanthine phosphoribosyl transferase. Clin Chim Acta. 1986 Feb 15; 154(3):195-201. Page TM, Broock RL, Nyhan WL, Nieto LH. PMID: 3955845.
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    170. Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism. Lancet. 1986 Feb 08; 1(8476):289-91. Wolff JA, Carroll JE, Prodanos C, Haas R, Nyhan WL. PMID: 2868163.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCTClinical Trials
    171. Metabolism of branched-chain amino acids in fibroblasts from patients with maple syrup urine disease and other abnormalities of branched-chain ketoacid dehydrogenase activity. Pediatr Res. 1986 Feb; 20(2):169-74. Yoshida I, Sweetman L, Nyhan WL. PMID: 3080729.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    172. Bone marrow transplantation in Lesch-Nyhan disease. Adv Exp Med Biol. 1986; 195 Pt A:167-70. Nyhan WL, Parkman R, Page T, Gruber HE, Pyati J, Jolly D, Friedmann T. PMID: 3524132.
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    173. The metabolism of 3-deazaguanine and 3-deazaguanosine by human cells in culture. Int J Biochem. 1986; 18(10):957-60. Page TM, Jacobsen SJ, Nyhan WL, Mangum JH, Robins RK. PMID: 2431931.
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    174. Hypoxanthine and tetrahydrobiopterin treatment of a patient with features of the Lesch-Nyhan syndrome. Adv Exp Med Biol. 1986; 195 Pt A:197-203. Manzke H, Gustmann H, Koke HG, Nyhan WL. PMID: 3728152.
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    175. Bone marrow transplantation in Lesch-Nyhan disease. Birth Defects Orig Artic Ser. 1986; 22(1):113-7. Nyhan WL, Page T, Gruber HE, Parkman R. PMID: 3516239.
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    176. Inheritable biotin-treatable disorders and associated phenomena. Annu Rev Nutr. 1986; 6:317-43. Sweetman L, Nyhan WL. PMID: 3089241.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansAnimalsCells
    177. Inborn errors of GABA metabolism. Bioessays. 1986 Jan; 4(1):24-7. Gibson KM, Nyhan WL, Jaeken J. PMID: 3790108.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    178. Metabolism of leucine in fibroblasts from patients with deficiencies in each of the major catabolic enzymes: branched-chain ketoacid dehydrogenase, isovaleryl-CoA dehydrogenase, 3-methylcrotonyl-CoA carboxylase, 3-methylglutaconyl-CoA hydratase, and 3-hydroxy-3-methylglutaryl-CoA lyase. J Neurogenet. 1985 Dec; 2(6):413-24. Yoshida I, Søvik O, Sweetman L, Nyhan WL. PMID: 3841150.
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    179. Separation of the intermediates of leucine catabolism by high-performance liquid chromatography. Biochem Med. 1985 Dec; 34(3):297-303. Page T, Nyhan WL. PMID: 4096718.
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    180. Immunoextraction of lipoamide dehydrogenase from cultured skin fibroblasts in patients with combined alpha-ketoacid dehydrogenase deficiency. Clin Chim Acta. 1985 Oct 31; 152(1-2):27-36. Otulakowski G, Nyhan W, Sweetman L, Robinson BH. PMID: 2414042.
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    181. Peripheral nerve in type III glycogenosis: selective involvement of unmyelinated fiber Schwann cells. Muscle Nerve. 1985 Oct; 8(8):667-71. Powell HC, Haas R, Hall CL, Wolff JA, Nyhan W, Brown BI. PMID: 3864008.
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    182. Lead intoxication in children. West J Med. 1985 Sep; 143(3):357-64. Nyhan WL, Sawyer M, Kearney T, Spector S, Hilton S. PMID: 3931357; PMCID: PMC1306322.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    183. Properties of succinic semialdehyde dehydrogenase in cultured human lymphoblasts. J Neurogenet. 1985 Apr; 2(2):111-22. Gibson KM, Sweetman L, Jansen I, Brown GK, Haan EA, Danks DM, Nyhan WL. PMID: 4020531.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    184. Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. Am J Hum Genet. 1985 Mar; 37(2):326-37. Burri BJ, Sweetman L, Nyhan WL. PMID: 3920902; PMCID: PMC1684574.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    185. Alanine decreases the protein requirements of infants with inborn errors of amino acid metabolism. J Neurogenet. 1985 Feb; 2(1):41-9. Wolff JA, Kelts DG, Algert S, Prodanos C, Nyhan WL. PMID: 4020529.
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    186. Proximal renal tubular acidosis in methylmalonic acidemia. J Neurogenet. 1985 Feb; 2(1):31-9. Wolff JA, Strom C, Griswold W, Sweetman F, Kulovich S, Prodanos C, Nyhan WL. PMID: 4020528.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    187. [Lesch-Nyhan syndrome: a new variant with hypoxanthine-guanine phosphoriboxyl transferase activity higher than the classical disease and detection of the heterozygote trait in the erythrocytes of the carrier]. Med Clin (Barc). 1985 Jan 19; 84(2):68-71. Hernández Nieto L, Nyhan WL, Page T, Cubillo Ferreira G, Rodríguez Fernández M, González García T, Cabrera de León A, Santolaria Fernández FJ. PMID: 3974350.
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    188. Studies on requirements for amino acids in infants with disorders of amino acid metabolism. I. Effect of alanine. Pediatr Res. 1985 Jan; 19(1):86-91. Kelts DG, Ney D, Bay C, Saudubray JM, Nyhan WL. PMID: 3969320.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    189. Clinical problems relating to biotin. Ann N Y Acad Sci. 1985; 447:222-4. Nyhan WL. PMID: 3860174.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    190. Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria. J Inherit Metab Dis. 1985; 8(2):58. Gibson KM, Sweetman L, Nyhan WL, Bowen P. PMID: 3939531.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    191. The role of lipid in the management of methylmalonic acidaemia: administration of linoleic acid does not increase excretion of methylmalonic acid. J Inherit Metab Dis. 1985; 8(3):100. Wolff JA, Sweetman L, Nyhan WL. PMID: 3939583.
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    192. An evaluation of protein requirements in methylmalonic acidaemia. J Inherit Metab Dis. 1985; 8(3):132-42. Ney D, Bay C, Saudubray JM, Kelts DG, Kulovich S, Sweetman L, Nyhan WL. PMID: 3939589.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    193. Demonstration of 4-aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts. J Inherit Metab Dis. 1985; 8(4):204-8. Gibson KM, Sweetman L, Nyhan WL, Jansen I. PMID: 3939544.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    194. Studies on the mechanism of cytotoxicity of 3-deazaguanosine in human cancer cells. Cancer Chemother Pharmacol. 1985; 15(1):59-62. Page T, Jacobsen SJ, Smejkal RM, Scheele J, Nyhan WL, Mangum JH, Robins RK. PMID: 4006050.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    195. Biotin holocarboxylase synthetase deficiency. Ann N Y Acad Sci. 1985; 447:288-96. Sweetman L, Burri BJ, Nyhan WL. PMID: 3860175.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    196. Intestinal obstruction due to peritoneal adhesions as a complication of peritoneal dialysis for neonatal hyperammonemia. Eur J Pediatr. 1985 Jan; 143(3):211-3. Nyhan WL, Wolff J, Kulovich S, Shumacher AE. PMID: 3987717.
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    197. Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid. Clin Chim Acta. 1984 Nov 15; 143(2):123-33. Jakobs C, Sweetman L, Nyhan WL, Gruenke L, Craig JC, Wadman SK. PMID: 6391739.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    198. Identification of methyl-branched chain dicarboxylic acids in amniotic fluid and urine in propionic and methylmalonic acidemia. Pediatr Res. 1984 Nov; 18(11):1185-91. Jakobs C, Dorland L, Sweetman L, Duran M, Nyhan WL, Wadman SK. PMID: 6514446.
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    199. Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria. Eur J Pediatr. 1984 Sep; 142(4):257-9. Gibson KM, Sweetman L, Nyhan WL, Lenoir G, Divry P. PMID: 6489377.
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    200. Succinic semialdehyde dehydrogenase deficiency. J Neurogenet. 1984 Sep; 1(3):213-8. Gibson KM, Sweetman L, Nyhan WL, Rating D. PMID: 6536727.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    201. Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia. Pediatr Res. 1984 Aug; 18(8):714-8. Jakobs C, Warner TG, Sweetman L, Nyhan WL. PMID: 6433315.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    202. Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid. Clin Chim Acta. 1984 Jul 16; 140(2):157-66. Jakobs C, Sweetman L, Nyhan WL. PMID: 6467607.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    203. Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts. Am J Hum Genet. 1984 Jul; 36(4):791-801. Sovik O, Sweetman L, Gibson KM, Nyhan WL. PMID: 6475954; PMCID: PMC1684482.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    204. Chemical analysis of succinylacetone and 4-hydroxyphenyllactate in amniotic fluid using selective ion monitoring. Prenat Diagn. 1984 May-Jun; 4(3):187-94. Jakobs C, Sweetman L, Nyhan WL. PMID: 6463026.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    205. 3-Hydroxy-3-methylglutaric aciduria. J Neurogenet. 1984 Apr; 1(2):165-73. Greene CL, Cann HM, Robinson BH, Gibson KM, Sweetman L, Holm J, Nyhan WL. PMID: 6085636.
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    206. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance. J Inherit Metab Dis. 1984; 7 Suppl 1:95-6. Gibson KM, Jansen I, Sweetman L, Nyhan WL, Rating D, Jakobs C, Divry P. PMID: 6434853.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    207. [Megaloblastic anemia in Lesch-Nyhan disease]. Sangre (Barc). 1984; 29(4-A):476-8. Hernández Nieto L, Brito Barroso ML, Nyhan WL. PMID: 6505934.
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    208. Human GMP synthetase. Int J Biochem. 1984; 16(1):117-20. Page T, Bakay B, Nyhan WL. PMID: 6698284.
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    209. Biochemical basis for the differential effects of deoxycoformycin on human leukemias. Adv Exp Med Biol. 1984; 165 Pt B:305-8. Yu AL, Matsumoto S, Bleeker L, Alvarez A, Bakay B, Nyhan WL, Kung F. PMID: 6609536.
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    210. Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism. J Inherit Metab Dis. 1984; 7(1):15-20. Jakobs C, Sweetman L, Nyhan WL, Packman S. PMID: 6429435.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    211. Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid. Eur J Pediatr. 1984 Jan; 141(3):153-7. Jakobs C, Sweetman L, Wadman SK, Duran M, Saudubray JM, Nyhan WL. PMID: 6698061.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    212. Detection of hypoxanthine guanine phosphoribosyl transferase heterozygotes by thin layer chromatography and autoradiography. Adv Exp Med Biol. 1984; 165 Pt A:265-8. Page T, Bakay B, Nyhan W. PMID: 6720388.
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    213. Southern analysis of the Lesch-Nyhan locus in man. Adv Exp Med Biol. 1984; 165 Pt A:417-20. Nussbaum RL, Caskey CT, Gilbert F, Nyhan W. PMID: 6547016.
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    214. Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase in intact cells. Adv Exp Med Biol. 1984; 165 Pt B:27-31. Page T, Bakay B, Nyhan WL. PMID: 6720430.
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    215. Novel nucleoside inhibitors of guanosine metabolism as antitumor agents. Adv Enzyme Regul. 1984; 22:59-68. Smejkal RM, Page TT, Boyd VL, Nyhan WL, Jacobsen SJ, Mangum JH, Robins RK. PMID: 6475642.
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    216. Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system. Pediatr Res. 1983 Dec; 17(12):967-70. Hayasaka K, Tada K, Kikuchi G, Winter S, Nyhan WL. PMID: 6336599.
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    217. Dietary management of oculocutaneous tyrosinemia in an 11-year-old child. Am J Dis Child. 1983 Oct; 137(10):995-1000. Ney D, Bay C, Schneider JA, Kelts D, Nyhan WL. PMID: 6225330.
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    218. Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism. Clin Chim Acta. 1983 Sep 15; 133(1):33-42. Gibson KM, Sweetman L, Nyhan WL, Jakobs C, Rating D, Siemes H, Hanefeld F. PMID: 6627675.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    219. The Börjeson-Forssman-Lehmann syndrome. Am J Med Genet. 1983 Jul; 15(3):457-68. Robinson LK, Jones KL, Culler F, Nyhan WL, Sakati N, Jones KL. PMID: 6683929.
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    220. A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A. 1983 Jul; 80(13):4035-9. Nussbaum RL, Crowder WE, Nyhan WL, Caskey CT. PMID: 6306659; PMCID: PMC394195.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansAnimalsCells
    221. Congenital cutis laxa and osteoporosis. Am J Dis Child. 1983 May; 137(5):452-4. Sakati NO, Nyhan WL. PMID: 6846273.
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    222. [Lesch-Nyhan disease studied in intact fibroblasts]. An Esp Pediatr. 1983 May; 18(5):394-8. Lartigau MT, Martínez A, Bakay B, Page T, Nyhan WL. PMID: 6614674.
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    223. Cytogenetic diseases. Clin Symp. 1983; 35(1):1-32. Nyhan WL. PMID: 6242703.
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    224. 3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl-coa lyase using high performance liquid chromatography. Clin Chim Acta. 1982 Dec 09; 126(2):171-81. Gibson KM, Sweetman L, Nyhan WL, Page TM, Greene C, Cann HM. PMID: 6185253.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    225. Biochemical correlates of the differential sensitivity of subtypes of human leukemia to deoxyadenosine and deoxycoformycin. Blood. 1982 Nov; 60(5):1096-102. Matsumoto SS, Yu AL, Bleeker LC, Bakay B, Kung FH, Nyhan WL. PMID: 6289941.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    226. Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. Pediatr Res. 1982 Oct; 16(10):877-81. Saudubray JM, Coudé FX, Demaugre F, Johnson C, Gibson KM, Nyhan WL. PMID: 7145511.
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    227. [Report of a patient with Lesch-Nyhan syndrome caused by total deficiency of HGPRT and with normal activity in female family members]. An Esp Pediatr. 1982 Jul; 17(1):60-4. Ferrández A, Mayayo E, Nyhan WL, Bakay B. PMID: 7137725.
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    228. Prenatal treatment of biotin responsive multiple carboxylase deficiency. Lancet. 1982 Jun 26; 1(8287):1435-8. Packman S, Cowan MJ, Golbus MS, Caswell NM, Sweetman L, Burri BJ, Nyhan WL, Baker H. PMID: 6123722.
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    229. Scimitar syndrome. Clin Pediatr (Phila). 1982 Jun; 21(6):350-4. Mardini MK, Sakati NA, Lewall DB, Christie R, Nyhan WL. PMID: 7075097.
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    230. Lesch-Nyhan disease: clinical experience with nineteen patients. Dev Med Child Neurol. 1982 Jun; 24(3):293-306. Christie R, Bay C, Kaufman IA, Bakay B, Borden M, Nyhan WL. PMID: 7095300.
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    231. An improved procedure for detection of hypoxanthine--guanine phosphoribosyl transferase heterozygotes. Clin Chem. 1982 May; 28(5):1181-4. Page T, Bakay B, Nyhan WL. PMID: 7074901.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    232. Kinetic studies of normal and variant hypoxanthine phosphoribosyltransferases in intact fibroblasts. Anal Biochem. 1982 May 01; 122(1):144-7. Page T, Bakay B, Nyhan WL. PMID: 7103079.
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    233. [Lesch-Nyhan disease. Study of a new patient (author's transl)]. Med Clin (Barc). 1982 Jan 25; 78(2):59-64. Carmena R, Nyhan WL, Ascaso J, Bakay B, Soriano J, Tebar J. PMID: 7070131.
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    234. Hyperuricaemia and choreoathetosis in a child without mental retardation or self-mutilation - a new HPRT variant. J Inherit Metab Dis. 1982; 5(4):183-6. Gottlieb RP, Koppel MM, Nyhan WL, Bakay B, Nissinen E, Borden M, Page T. PMID: 6820438.
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    235. Organic aciduria in neonatal multiple carboxylase deficiency. J Inherit Metab Dis. 1982; 5(1):49-53. Sweetman L, Nyhan WL, Sakati NA, Ohlsson A, Mange MS, Boychuk RB, Kaye R. PMID: 6820414.
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    236. Transient hyperammonemias in infants with and without organic acidemia. Adv Exp Med Biol. 1982; 153:331-8. Nyhan WL, Rubio V, Jordá A, Grisolia S, Gutierez F, Canosa C. PMID: 7164908.
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    237. Neutropenia of childhood. West J Med. 1982 Jan; 136(1):29-34. Koenig HM, Stein MT, Waecker N, Nyhan WL. PMID: 7072238; PMCID: PMC1273370.
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    238. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J Clin Invest. 1981 Dec; 68(6):1491-5. Burri BJ, Sweetman L, Nyhan WL. PMID: 6798072; PMCID: PMC370952.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansAnimals
    239. Propionic acidemia: a clinical update. J Pediatr. 1981 Dec; 99(6):835-46. Wolf B, Hsia YE, Sweetman L, Gravel R, Harris DJ, Nyhan WL. PMID: 7031206.
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    240. Renal pathogenesis of familial hyperuricemia: studies in two kindreds. Pediatr Res. 1981 Nov; 15(11):1447-53. Stapleton FB, Nyhan WL, Borden M, Kaufman IA. PMID: 7301465.
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    241. Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin. Pediatrics. 1981 Oct; 68(4):553-8. Sweetman L, Surh L, Baker H, Peterson RM, Nyhan WL. PMID: 7322688.
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    242. Joseph disease and Huntington disease: protein patterns in fibroblasts and brain. Neurology. 1981 Aug; 31(8):1003-14. Rosenberg RN, Ivy N, Kirkpatrick J, Bay C, Nyhan WL, Baskin F. PMID: 6455606.
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    243. Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein. J Clin Invest. 1981 Aug; 68(2):525-34. Hiraga K, Kochi H, Hayasaka K, Kikuchi G, Nyhan WL. PMID: 6790577; PMCID: PMC370827.
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    244. Effects of 2'-deoxycoformycin on the metabolism of purines and the survival of malignant cells in a patient with T-cell leukemia. Cancer Res. 1981 Jul; 41(7):2677-82. Yu AL, Bakay B, Kung FH, Nyhan WL. PMID: 6972800.
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    245. Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. Pediatrics. 1981 Jul; 68(1):113-8. Wolf B, Hsia YE, Sweetman L, Feldman G, Boychuk RB, Bart RD, Crowell DH, Di Mauro RM, Nyhan WL. PMID: 6787561.
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    246. Anomalous left pulmonary venous drainage to the inferior vena cava and through the pericardiophrenic vein to the innominate vein:left-sided scimitar syndrome. Am Heart J. 1981 Jun; 101(6):860-3. Mardini MK, Sakati NA, Nyhan WL. PMID: 7015813.
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    247. New metabolites in isovaleric acidemia. Clin Chim Acta. 1981 Mar 05; 110(2-3):187-203. Truscott RJ, Malegan D, McCairns E, Burke D, Hick L, Sims P, Halpern B, Tanaka K, Sweetman L, Nyhan WL, Hammond J, Bumack C, Haan EA, Danks DM. PMID: 6452974.
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    248. Progressive neurodegenerative disorder in a patient with nonketotic hyperglycinemia. J Pediatr. 1981 Feb; 98(2):272-5. Trauner DA, Page T, Greco C, Sweetman L, Kulovich S, Nyhan WL. PMID: 6780675.
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    249. Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity. J Inherit Metab Dis. 1981; 4(4):203-6. Page T, Bakay B, Nissinen E, Nyhan WL. PMID: 6796771.
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    250. Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia. Clin Chim Acta. 1980 Nov 06; 107(3):175-83. Naylor G, Sweetman L, Nyhan WL, Hornbeck C, Griffiths J, Mörch L, Brandänge S. PMID: 7002368.
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    251. Pitfalls in the prenatal diagnosis of propionic acidemia. Clin Genet. 1980 Sep; 18(3):177-83. Buchanan PD, Kahler SG, Sweetman L, Nyhan WL. PMID: 6934053.
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    252. Glutaric aciduria Type II. J Pediatr. 1980 Jun; 96(6):1020-6. Sweetman L, Nyhan WL, Tauner DA, Merritt TA, Singh M. PMID: 7373461.
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    253. Serotonergic approaches to the modification of behavior in the Lesch-Nyhan Syndrome. Appl Res Ment Retard. 1980; 1(1-2):25-40. Nyhan WL, Johnson HG, Kaufman IA, Jones KL. PMID: 6978104.
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    254. Propionic acidaemia presenting with pancytopaenia in infancy. J Inherit Metab Dis. 1980; 2(3):65-9. Sweetman L, Nyhan WL, Cravens J, Zomer Y, Plunket DC. PMID: 6796762.
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    255. Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. J Clin Invest. 1980 Jan; 65(1):109-20. Becker MA, Raivio KO, Bakay B, Adams WB, Nyhan WL. PMID: 6243137; PMCID: PMC371345.
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    256. Superactive phosphoribosylpyrophosphate synthetase with altered regulatory and catalytic properties. Adv Exp Med Biol. 1980; 122A:387-92. Becker MA, Raivio KO, Bakay B, Adams WB, Nyhan WL. PMID: 6158850.
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    257. Variation in human HPRT and its relationship to neurologic and behavioral manifestations. Adv Exp Med Biol. 1980; 122A:317-25. Bakay B, Nissinen E, Sweetman L, Francke U, Nyhan WL. PMID: 7424650.
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    258. Understanding inherited metabolic disease. Clin Symp. 1980; 32(5):1-36. Nyhan WL. PMID: 6113913.
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    259. Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome. Pediatr Res. 1979 Dec; 13(12):1365-70. Bakay B, Nissinen E, Sweetman L, Francke U, Nyhan WL. PMID: 523196.
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    260. Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia. J Clin Invest. 1979 Dec; 64(6):1544-51. Coude FX, Sweetman L, Nyhan WL. PMID: 500823; PMCID: PMC371306.
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    261. Prenatal diagnosis of propionic acidemia. JAMA. 1979 Sep 07; 242(10):1048-52. Sweetman L, Weyler W, Shafai T, Young PE, Nyhan WL. PMID: 470045.
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    262. Factitious disease in pediatrics. West J Med. 1979 Sep; 131(3):219-24. Stein M, Stapleton FB, Rufner D, Edwards DK, Nyhan WL. PMID: 18748471; PMCID: PMC1271772.
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    263. Abnormal pyruvate and alpha-ketoglutarate dehydrogenase complexes in a patient with lactic acidemia. Pediatr Res. 1979 Aug; 13(8):928-31. Kuroda Y, Kline JJ, Sweetman L, Nyhan WL, Groshong TD. PMID: 481967.
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    264. Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. Lancet. 1979 Jul 21; 2(8134):115-8. Cowan MJ, Wara DW, Packman S, Ammann AJ, Yoshino M, Sweetman L, Nyhan W. PMID: 88554.
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    265. Joseph disease: protein patterns in fibroblasts and brain. Neurology. 1979 Jul; 29(7):917-26. Rosenberg RN, Thomas L, Baskin F, Kirkpatrick J, Bay C, Nyhan WL. PMID: 572941.
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    266. Effects of L-5-hydroxytryptophan on monoamine and amino acids turnover in the Lesch-Nyhan syndrome. J Autism Dev Disord. 1979 Mar; 9(1):95-103. Castells S, Chakrabarti C, Winsberg BG, Hurwic M, Perel JM, Nyhan WL. PMID: 312282.
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    267. Intussusception. West J Med. 1979 Jan; 130(1):35-42. Stein M, Buchta R, Raszynski A, Nyhan WL. PMID: 419748; PMCID: PMC1238481.
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    268. In vitro and in vivo effect of deoxycoformycin in human T cell leukemia. Adv Exp Med Biol. 1979; 122B:373-9. Yu AL, Kung FH, Bakay B, Nyhan WL. PMID: 397762.
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    269. Two forms of cutis laxa presenting in the newborn period. Acta Paediatr Scand. 1978 Nov; 67(6):775-80. Agha A, Sakati NO, Higginbottom MC, Jones KL, Bay C, Nyhan WL. PMID: 102106.
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    270. Johanson-Blizzard syndrome in a large inbred kindred with three involved members. Clin Genet. 1978 Nov; 14(5):247-50. Mardini MK, Ghandour M, Sakati NA, Nyhan WL. PMID: 709902.
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    271. Transient hyperammonemia of the preterm infant. N Engl J Med. 1978 Oct 26; 299(17):920-5. Ballard RA, Vinocur B, Reynolds JW, Wennberg RP, Merritt A, Sweetman L, Nyhan WL. PMID: 692597.
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    272. Specialty conference. Staphylococcal pneumonia. West J Med. 1978 Sep; 129(3):201-9. Canty TG, Goscienski P, Edwards D, Daley S, Nyhan WL. PMID: 706357; PMCID: PMC1238312.
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    273. A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. N Engl J Med. 1978 Aug 17; 299(7):317-23. Higginbottom MC, Sweetman L, Nyhan WL. PMID: 683264.
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    274. The Lesch-Nyhan syndrome. Dev Med Child Neurol. 1978 Jun; 20(3):376-80. Nyhan WL. PMID: 307504.
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    275. Reexpression of HPRT activity following cell fusion with polyethylene glycol. Biochem Genet. 1978 Apr; 16(3-4):227-37. Bakay B, Graf M, Carey S, Nissinen E, Nyhan WL. PMID: 209782.
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    276. Citrullinemia. Virchows Arch A Pathol Anat Histol. 1978 Mar 10; 377(3):249-58. Leibowitz J, Thoene J, Spector E, Nyhan W. PMID: 148153.
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    277. Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency. Biomed Mass Spectrom. 1978 Mar; 5(3):198-207. Sweetman L, Weyler W, Nyhan WL, de Céspedes C, Loria AR, Estrada Y. PMID: 630060.
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    278. A distinct human variant of hypoxanthine-guanine phosphoribosyl transferase. J Pediatr. 1978 Mar; 92(3):385-9. Sweetman L, Hoch MA, Bakay B, Borden M, Lesh P, Nyhan WL. PMID: 632976.
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    279. Analysis of radioactive and nonradioactive purine bases, purine nucleosides and purine nucleotides by high-speed chromatography on a single column. Monogr Hum Genet. 1978; 10:127-34. Bakay B, Nissinen EA, Sweetman L, Nyhan WL. PMID: 723885.
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    280. Tyrosinemia associated with perinatal infection with cytomegalovirus. J Pediatr. 1978 Jan; 92(1):108-12. Thoene J, Sweetman L, Shafai T, Kennaway N, Fellman J, Nyhan W. PMID: 201739.
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    281. Atypical ichthyosiform erythroderma and congenital neurosensory deafness--a distinct syndrome. J Pediatr. 1978 Jan; 92(1):68-72. Senter TP, Jones KL, Sakati N, Nyhan WL. PMID: 338874.
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    282. Non-ketotic hyperglycinaemia in a family with an unusual phenotype. J Inherit Metab Dis. 1978; 1(3):79-83. Ando T, Nyhan WL, Bicknell J, Harris R, Stern J. PMID: 116082.
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    283. Propionic acidemia with severe hyperammonemia and defective glycine metabolism. J Pediatr. 1978 Jan; 92(1):84-6. Shafai T, Sweetman L, Weyler W, Goodman SI, Fennessey PV, Nyhan WL. PMID: 619088.
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    284. Ataxia and disorders of purine metabolism: defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia. Adv Neurol. 1978; 21:279-87. Nyhan WL. PMID: 735927.
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    285. The diagnosis and management of propionic acidemia. Monogr Hum Genet. 1978; 9:80-3. de Cespedes C, Loria AR, Estrada Y, Sweetman L, Nyhan WL. PMID: 732855.
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    286. Joseph's disease: an autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands. Adv Neurol. 1978; 21:33-57. Rosenberg RN, Nyhan WL, Coutinho P, Bay C. PMID: 735930.
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    287. Specialty conference: management of infants with diaphragmatic hernia. West J Med. 1977 Dec; 127(6):479-86. Collins DL, Marks L, Edwards D, Kirkpatrick SE, Nyhan WL. PMID: 595586; PMCID: PMC1237919.
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    288. Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria. Pediatr Res. 1977 Nov; 11(11):1144-7. Sweetman L, Bates SP, Hull D, Nyhan WL. PMID: 917614.
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    289. Biochemical correlates of illness and recovery in Reye's syndrome. Ann Neurol. 1977 Sep; 2(3):238-41. Trauner D, Sweetman L, Holm J, Kulovich S, Nyhan WL. PMID: 617569.
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    290. Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria. Clin Chim Acta. 1977 May 02; 76(3):321-8. Weyler W, Sweetman L, Maggio DC, Nyhan WL. PMID: 858206.
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    291. Answer to criticism of Morton and Lalouel. Am J Hum Genet. 1977 May; 29(3):307-11. Francke U, Felsenstein J, Gartler SM, Nyhan WL, Seegmiller JE. PMID: 17948539; PMCID: PMC1685308.
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    292. An approach to the diagnosis of overwhelming metabolic disease in early infancy. Curr Probl Pediatr. 1977 Apr; 1-20. Nyhan WL. PMID: 856539.
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    293. Neonatal citrllinemia: treatment with keto-analogues of essential amino acids. J Pediatr. 1977 Feb; 90(2):218-24. Thoene J, Batshaw M, Spector E, Kulovich S, Brusilow S, Walser M, Nyhan W. PMID: 830913.
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    294. Altered excreton of 5-hydroxyindoleacetic acid and glycine in patients with the Lesch-Nyhan disease. Adv Exp Med Biol. 1977; 76A:398-404. Sweetman L, Borden M, Kulovich S, Kaufman I, Nyhan WL. PMID: 300980.
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    295. Study of immunoreactive material in patients with deficient HPRT activity. Adv Exp Med Biol. 1977; 76A:361-9. Bakay B, Graf M, Carey S, Nyhan WL. PMID: 855716.
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    296. Experience with detection of heterozygous carriers and prenatal diagnosis of Lesch-Nyhan disease. Adv Exp Med Biol. 1977; 76A:351-8. Bakay B, Francke U, Nyhan WL, Seegmiller JE. PMID: 855715.
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    297. Genetic heterogeneity at the locus for hypoxanthine-guanine phosphoribosyltransferase. Ciba Found Symp. 1977; (48):65-81. Nyhan WL. PMID: 305334.
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    298. Jamaican vomiting sickness and Reye's syndrome. N Engl J Med. 1976 Dec 23; 295(26):1481-2. Trauner DA, Nyhan WL, Sweetman L. PMID: 995147.
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    299. Reaction of antibody to normal human hypoxanthine phosphoribosyltransferase with products of mutant genes. Arch Biochem Biophys. 1976 Dec; 177(2):415-26. Bakay B, Becker MA, Nyhan WL. PMID: 1035076.
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    300. Acute iron poisoning in children. West J Med. 1976 Oct; 125(4):289-97. Stein M, Blayney D, Feit T, Goergen TG, Micik S, Nyhan WL. PMID: 1032228; PMCID: PMC1237310.
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    301. Behavior in the Lesch--Nyhan syndrome. J Autism Child Schizophr. 1976 Sep; 6(3):235-52. Nyhan WL. PMID: 1086851.
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    302. Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder. Neurology. 1976 Aug; 26(8):703-14. Rosenberg RN, Nyhan WL, Bay C, Shore P. PMID: 945867.
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    303. A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. J Pediatr. 1976 Apr; 88(4 Pt 1):589-91. Keller MA, Jones KL, Nyhan WL, Francke U, Dixson B. PMID: 1255317.
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    304. The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet. 1976 Mar; 28(2):123-37. Francke U, Felsenstein J, Gartler SM, Migeon BR, Dancis J, Seegmiller JE, Bakay F, Nyhan WL. PMID: 1266847; PMCID: PMC1684918.
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    305. Autosomal dominant striatonigral degeneration: a clinical, pathological, and biochemical study of a new genetic disorder. Trans Am Neurol Assoc. 1976; 101:78-80. Rosenberg RN, Nyhan WL, Bay C. PMID: 1028273.
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    306. Editorial: Prenatal treatment of methylmalonic acidemia. N Engl J Med. 1975 Aug 14; 293(7):353-4. Nyhan WL. PMID: 1152927.
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    307. Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis. J Pediatr. 1975 May; 86(5):707-12. Wadlington WB, Kilroy A, Ando T, Sweetman L, Nyhan WL. PMID: 1133651.
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    308. Heterogeneity of hypoxanthine guanine phosphoribosyl transferase from human erythrocytes. Arch Biochem Biophys. 1975 May; 168(1):26-34. Bakay B, Nyhan WL. PMID: 1169910.
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    309. Reversion in expression of hypoxanthine-guanine phosphoribosyl transferase following cell hybridization. J Cell Sci. 1975 May; 17(3):567-78. Bakay B, Nyhan WL, Croce CM, Koprowski H. PMID: 1170183.
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    310. Short-chain organic acidemia and Reye's syndrome. Neurology. 1975 Mar; 25(3):296-8. Trauner DA, Nyhan WL, Sweetman L. PMID: 1167641.
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    311. Olivopontocerebellar degeneration. Clinical and ultrastructural abnormalities. Arch Neurol. 1974 Nov; 31(5):295-307. Landis DM, Rosenberg RN, Landis SC, Schut L, Nyhan WL. PMID: 4370236.
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    312. Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes. Am J Hum Genet. 1974 Jul; 26(4):512-22. Francke U, Bakay B, Connor JD, Coldwell JG, Nyhan WL. PMID: 4842775; PMCID: PMC1762591.
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    313. A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations. Clin Genet. 1974; 6(1):51-9. Yujnovsky O, Ayala D, Vincitorio A, Viale H, Sakati N, Nyhan WL. PMID: 4372010.
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    314. The Lesch-Nyhan syndrome. Adv Nephrol Necker Hosp. 1974; 3:59-70. Nyhan WL. PMID: 4219709.
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    315. Increased activity of adenine phosphoribosyltransferase in erythrocytes of normal newborn infants. Pediatr Res. 1974 Jan; 8(1):31-6. Borden M, Nyhan WL, Bakay B. PMID: 4358452.
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    316. Malformation syndromes in human genetic disease. Plast Reconstr Surg. 1973 Sep; 52(3):237-45. Nyhan WL. PMID: 4269199.
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    317. Reexpression of the rat hypoxanthine phosphoribosyltransferase gene in rat-human hybrids. Proc Natl Acad Sci U S A. 1973 Sep; 70(9):2590-4. Croce CM, Bakay B, Nyhan WL, Koprowski H. PMID: 4354857; PMCID: PMC427062.
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    318. Restoration of hypoxanthine phosphoribosyl transferase activity in mouse 1R cells after fusion with chick-embryo fibroblasts. Proc Natl Acad Sci U S A. 1973 Jul; 70(7):1998-2002. Bakay B, Croce CM, Koprowski H, Nyhan WL. PMID: 4516198; PMCID: PMC433651.
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    319. The Lesch-Nyhan syndrome. Birth Defects Orig Artic Ser. 1973 Mar; 9(2):41-2. Nyhan WL. PMID: 4803707.
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    320. Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates. J Pediatr. 1973 Mar; 82(3):472-8. Francke U, Bakay B, Nyhan WL. PMID: 4349227.
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    321. Response to dietary therapy in B 12 unresponsive methylmalonic acidemia. Pediatrics. 1973 Mar; 51(3):539-48. Nyhan WL, Fawcett N, Ando T, Rennert OM, Julius RL. PMID: 4707869.
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    322. The Lesch-Nyhan syndrome. Annu Rev Med. 1973; 24:41-60. Nyhan WL. PMID: 4575865.
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    323. Excretion of tiglylglycine in propionic acidemia. J Pediatr. 1972 Nov; 81(5):970-2. Rasmussen K, Ando T, Nyhan WL, Hull D, Cottom D, Kilroy AW, Wadlington W. PMID: 5086724.
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    324. 3-hydroxypropionate: significance of -oxidation of propionate in patients with propionic acidemia and methylmalonic acidemia. Proc Natl Acad Sci U S A. 1972 Oct; 69(10):2807-11. Ando T, Rasmussen K, Nyhan WL, Hull D. PMID: 4507604; PMCID: PMC389649.
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    325. Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme. Proc Natl Acad Sci U S A. 1972 Sep; 69(9):2523-6. Bakay B, Nyhan WL. PMID: 4341698; PMCID: PMC426979.
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    326. Further studies of the enzyme composition of mutant cells in X-linked uric aciduria. Arch Intern Med. 1972 Aug; 130(2):214-20. Sweetman L, Nyhan WL. PMID: 5065734.
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    327. Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme. Biochem Genet. 1972 Aug; 7(1):73-85. Bakay B, Nyhan WL, Fawcett N, Kogut MD. PMID: 5041886.
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    328. Clinical features of the Lesch-Nyhan syndrome. Arch Intern Med. 1972 Aug; 130(2):186-92. Nyhan WL. PMID: 5050553.
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    329. Excretion of propionylglycine in propionic acidaemia. Clin Sci. 1972 Jun; 42(6):665-71. Rasmussen K, Ando T, Nyhan WL, Hull D, Cottom D, Donnell G, Wadlington W, Kilroy AW. PMID: 5033805.
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    330. The oxidation of glycine and propionic acid in propionic acidemia with ketotic hyperglycinemia. Pediatr Res. 1972 Jun; 6(6):576-83. Ando T, Nyhan WL, Connor JD, Rasmussen K, Donnell G, Barnes N, Cottom D, Hull D. PMID: 5046977.
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    331. Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia. J Biol Chem. 1972 Apr 10; 247(7):2200-4. Ando T, Rasmussen K, Wright JM, Nyhan WL. PMID: 5016650.
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    332. Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome. Biochem Genet. 1972 Apr; 6(2):139-46. Bakay B, Nyhan WL. PMID: 4354248.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    333. Behavioral phenotypes in organic genetic disease. Presidential address to the Society for Pediatric Research, May 1, 1971. Pediatr Res. 1972 Jan; 6(1):1-9. Nyhan WL. PMID: 5046967.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    334. Self-mutilative behavior in the Cornelia de Lange syndrome. Am J Ment Defic. 1971 Nov; 76(3):319-24. Bryson Y, Sakati N, Nyhan WL, Fish CH. PMID: 5148360.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    335. Studies on the mechanism of adsorption of purines in sephadex G-10 chromatography. J Chromatogr. 1971 Jul 22; 59(2):349-66. Sweetman L, Nyhan WL. PMID: 5110718.
      View in: PubMed   Mentions: 1     Fields:    Translation:Cells
    336. A new syndrome with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin, and lower limbs. J Pediatr. 1971 Jul; 79(1):104-9. Sakati N, Nyhan WL, Tisdale WK. PMID: 4253694.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    337. Syndrome of unilateral ectromelia, psoriasis and central nervous system anomalies. Birth Defects Orig Artic Ser. 1971 Jun; 7(8):197-203. Shear CS, Nyhan WL, Frost P, Weinstein GD. PMID: 5173260.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    338. Propionic acidemia in patients with ketotic hyperglycinemia. J Pediatr. 1971 May; 78(5):827-32. Ando T, Rasmussen K, Nyhan WL, Donnell GN, Barnes ND. PMID: 5581587.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    339. The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis. Biochem Genet. 1971 Feb; 5(1):81-90. Bakay B, Nyhan WL. PMID: 5582066.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansAnimalsCells
    340. Detailed comparison of the urinary excretion of purines in a patient with the Lesch-Nyhan syndrome and a control subject. Biochem Med. 1970 Sep; 4(2):121-34. Sweetman L, Nyhan WL. PMID: 5134918.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    341. A simple screening method for detecting isovalerylglycine in urine patients with isovaleric acidemia. Clin Chem. 1970 May; 16(5):420-2. Ando T, Nyhan WL. PMID: 5443766.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansPHPublic Health
    342. Diagnosis of Lesch-Nyhan syndrome by direct study of skin specimens. JAMA. 1970 Apr 13; 212(2):316-8. Frost P, Weinstein GD, Nyhan WL. PMID: 5467237.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    343. Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family. Am J Med. 1970 Feb; 48(2):148-61. Kogut MD, Donnell GN, Nyhan WL, Sweetman L. PMID: 5416258.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    344. Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group. Am J Hum Genet. 1970 Jan; 22(1):50-4. Greene ML, Nyhan WL, Seegmiller JE. PMID: 5411648; PMCID: PMC1706515.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    345. Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. Proc Natl Acad Sci U S A. 1970 Jan; 65(1):214-8. Nyhan WL, Bakay B, Connor JD, Marks JF, Keele DK. PMID: 5263751; PMCID: PMC286212.
      View in: PubMed   Mentions: 73     Fields:    Translation:HumansCells
    346. Cerebral gigantism: concentrations of amino acids in plasma and muscle. J Pediatr. 1970 Jan; 76(1):105-11. Bejar RL, Smith GF, Park S, Spellacy WN, Wolfson SL, Nyhan WL. PMID: 4312004.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    347. Nonketotic hyperglycinemia. J Pediatr. 1969 Dec; 75(6):1022-30. Baumgartner R, Ando T, Nyhan WL. PMID: 5352828.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    348. Quantitation of oxypurines and allopurinol metabolites in biological fluids by cation-exchange chromatography. Anal Biochem. 1969 Oct 01; 31(1):358-65. Sweetman L, Nyhan WL. PMID: 5380707.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    349. Metabolism of glyoxylate in nonketotic hyperglycinemia. Pediatr Res. 1969 Jul; 3(4):269-74. Gerritsen T, Nyhan WL, Rehberg ML, Ando T. PMID: 5807055.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    350. Observations on the coexistence of methylmalonic acidemia and glycinemia. J Pediatr. 1969 May; 74(5):680-90. Morrow G, Barness LA, Auerbach VH, DiGeorge AM, Ando T, Nyhan WL. PMID: 5778824.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    351. A new disorder of purine metabolism with behavioral manifestations. J Pediatr. 1969 Jan; 74(1):20-7. Nyhan WL, James JA, Teberg AJ, Sweetman L, Nelson LG. PMID: 5782823.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansCells
    352. Effects of the uricogenic agent, 2-ethylamino-1,3,4-thiadiazole in hypoxanthine-guanine phosphoribosyl transferase deficiency. Metabolism. 1968 Oct; 17(10):846-53. Nyhan WL, Sweetman L, Lesch M. PMID: 4877987.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCTClinical Trials
    353. Metabolism of glycine in the nonketotic form of hyperglycinemia. Pediatr Res. 1968 Jul; 2(4):254-63. Ando T, Nyhan WL, Gerritsen T, Gong L, Heiner DC, Bray PF. PMID: 5669662.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    354. The clinical findings in a patient with nonketotic hyperglycinemia. Pediatr Res. 1968 Jul; 2(4):250-3. Ziter FA, Bray PF, Madsen JA, Nyhan WL. PMID: 5691357.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimals
    355. Clinical features of the Lesch-Nyhan syndrome. Introduction--clinical and genetic features. Fed Proc. 1968 Jul-Aug; 27(4):1027-33. Nyhan WL. PMID: 5658468.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    356. Lesch-Nyhan syndrome. Summary of clinical features. Fed Proc. 1968 Jul-Aug; 27(4):1034-41. Nyhan WL. PMID: 5658469.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    357. X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations. Science. 1968 Apr 26; 160(3826):425-7. Migeon BR, Der Kaloustian VM, Nyhan WL, Yough WJ, Childs B. PMID: 4868511.
      View in: PubMed   Mentions: 59     Fields:    Translation:HumansCells
    358. Sephadex G-10 adsorption chromatography of purines and related compounds. J Chromatogr. 1968 Feb 20; 32(4):662-75. Sweetman L, Nyhan WL. PMID: 5645559.
      View in: PubMed   Mentions: 2     Fields:    
    359. Effects of azathiprine in a disorder of uric acid metabolism and cerebral function. J Pediatr. 1968 Jan; 72(1):111-8. Nyhan WL, Sweetman L, Carpenter DG, Carter CH, Hoefnagel D. PMID: 5634933.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    360. Excretion of hypoxanthine and xanthine in a genetic disease of purine metabolism. Nature. 1967 Aug 19; 215(5103):859-60. Sweetman L, Nyhan WL. PMID: 6049739.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    361. Treatment of hyperglycinemia. Am J Dis Child. 1967 Jan; 113(1):129-33. Nyhan WL. PMID: 6015889.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    362. Concentrations of amino acids in plasma and muscle. Relationship to androgen metabolism during growth and development in the male. Am J Dis Child. 1966 Oct; 112(4):283-9. Zachmann M, Cleveland WW, Sandberg DH, Nyhan WL. PMID: 4224384.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    363. A disorder of uric acid metabolism and cerebral function in childhood. Arthritis Rheum. 1965 Oct; 8(5):659-64. Nyhan WL. PMID: 5859539.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    364. HYPERGLYCINEMIA. V. THE MISCIBLE POOL AND TURNOVER RATE OF GLYCINE AND THE FORMATION OF SERINE. J Clin Invest. 1964 Dec; 43:2404-9. NYHAN WL, CHILDS B. PMID: 14234837; PMCID: PMC289669.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    365. HYPERTHYROIDISM IN A PATIENT WITH A PITUITARY ADENOMA. J Pediatr. 1964 Oct; 65:583-9. NYHAN WL, GREEN M. PMID: 14216646.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    366. FURTHER OBSERVATIONS OF A PATIENT WITH HYPERGLYCINEMIA. Pediatrics. 1964 Mar; 33:403-12. CHILDS B, NYHAN WL. PMID: 14129085.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    367. Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I. Pediatrics. 1961 Apr; 27:522-38. CHILDS B, NYHAN WL, BORDEN M, BARD L, COOKE RE. PMID: 13693094.
      View in: PubMed   Mentions: 60     Fields:    
    368. Idiopathic hyperglycinemia: a new disorder of amino acid metabolism. II. The concentrations of other amino acids in the plasma and their modification by the administration of leucine. Pediatrics. 1961 Apr; 27:539-50. NYHAN WL, BORDEN M, CHILDS B. PMID: 13729969.
      View in: PubMed   Mentions: 18     Fields:    
    369. Septicemia of the newborn. Pediatrics. 1958 Aug; 22(2):268-78. NYHAN WL, FOUSEK MD. PMID: 13578513.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    370. Acute hematogenous osteomyelitis. Pediatrics. 1956 Mar; 17(3):368-82. GREEN M, NYHAN WL, FOUSEK MD. PMID: 13297518.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    371. Hemophilus influenzae type b pneumonia. Pediatrics. 1955 Jul; 16(1):31-42. NYHAN WL, RECTANUS DR, FOUSEK MD. PMID: 14394736.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
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