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William Nyhan

Title(s)Emeritus Professor, Pediatrics
SchoolHealth Sciences
Phone619-543-5337
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    Collapse Research 
    Collapse Research Activities and Funding
    Center for the Study of the Neural Bases of Language and Learning
    NIH/NINDS P50NS022343Sep 16, 1985 - Jun 30, 2014
    Role: Co-Principal Investigator
    GENETIC CONTROL OF HUMAN METABOLISM
    NIH/NIDDK T32DK007318Sep 15, 1978 - Aug 31, 1999
    Role: 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.
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    1. Nyhan WL, McGowan K, Barshop BA. Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease. Clin Chim Acta. 2019 Aug 09. PMID: 31404531.
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    2. Nguyen KV, Naviaux RK, Nyhan WL. Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids. 2017 Nov 02; 36(11):704-711. PMID: 29185864.
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    3. Nguyen KV, Silva S, Troncoso M, Naviaux RK, Nyhan WL. 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. PMID: 28524722.
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    4. Nguyen KV, Nyhan WL. Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease. Neurosci Lett. 2017 03 16; 643:52-58. PMID: 28192196.
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    5. Nguyen KV, Leydiker K, Wang R, Abdenur J, Nyhan WL. 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. PMID: 28102781.
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    6. Nguyen KV, Naviaux RK, Nyhan WL. 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. PMID: 28045594.
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    7. Christy A, Nyhan W, Wilson J. 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. PMID: 27858372.
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    8. Nyhan WL, Gangoiti JA. Hereditary Orotic Aciduria and the Excretion of Orotidine. Neuropediatrics. 2016 Dec; 47(6):408-409. PMID: 27574833.
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    9. Nguyen KV, Nyhan WL. Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome. Nucleosides Nucleotides Nucleic Acids. 2016 Aug 02; 35(8):426-33. PMID: 27379977.
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    10. Khasnavis T, Reiner G, Sommerfeld B, Nyhan WL, Chipkin R, Jinnah HA. 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. PMID: 26922636.
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    11. Khanna A, Gish R, Winter SC, Nyhan WL, Barshop BA. Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia. JIMD Rep. 2016; 25:87-94. PMID: 26219882.
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    12. Auler K, Broock R, Nyhan WL. 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; 86:17.19.1-10. PMID: 26132002.
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    13. Gertsman I, Barshop BA, Panyard-Davis J, Gangoiti JA, Nyhan WL. Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria. JIMD Rep. 2015; 24:13-20. PMID: 25665838.
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    14. Gertsman I, Gangoiti JA, Nyhan WL, Barshop BA. Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome. Mol Genet Metab. 2015 Mar; 114(3):431-7. PMID: 25680927.
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    15. Nguyen KV, Nyhan WL. 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. PMID: 25965333.
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    16. 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. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab. 2014 Jan; 111(1):16-25. PMID: 24268530.
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    17. 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. Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease. J Am Soc Nephrol. 2013 Nov; 24(11):1901-12. PMID: 23949796; PMCID: PMC3810086.
    18. 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. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain. 2014 May; 137(Pt 5):1282-303. PMID: 23975452; PMCID: PMC3999711.
    19. Dolcetta D, Parmigiani P, Salmaso L, Bernardelle R, Cesari U, Andrighetto G, Baschirotto G, Nyhan WL, Hladnik U. 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. PMID: 24001191.
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    20. Nguyen KV, Nyhan WL. Identification of novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids. 2013; 32(3):155-60. PMID: 23473102.
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    21. Nyhan WL. On being a Doctor... "and describe a disease not previously reported, Lesch--Nyhan disease". Rev Clin Esp. 2012 Oct; 212(9):462-4. PMID: 23227468.
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    22. Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. 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. PMID: 22766437.
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    23. Kim SZ, Song WJ, Nyhan WL, Ficicioglu C, Mandell R, Shih VE. Long-term follow-up of four patients affected by HHH syndrome. Clin Chim Acta. 2012 Jul 11; 413(13-14):1151-5. PMID: 22465082.
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    24. Nguyen KV, Naviaux RK, Paik KK, Nakayama T, Nyhan WL. 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. PMID: 22908952.
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    25. 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, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet. 2011 Aug 14; 43(9):883-6. PMID: 21841779.
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    26. Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. Novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids. 2011 Jun; 30(6):440-5. PMID: 21780909.
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    27. Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL. Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Mol Genet Metab. 2011 Feb; 102(2):218-21. PMID: 21071250.
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    28. 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. 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. PMID: 20638392.
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    29. Sarafoglou K, Grosse-Redlinger K, Boys CJ, Charnas L, Otten N, Broock R, Nyhan WL. Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members. Arch Neurol. 2010 Jun; 67(6):761-4. PMID: 20558399.
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    30. 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. Attenuated variants of Lesch-Nyhan disease. Brain. 2010 Mar; 133(Pt 3):671-89. PMID: 20176575; PMCID: PMC2842514.
    31. Nyhan WL, Willis M, Barshop BA, Gangoiti J. 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. PMID: 19357990.
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    32. Klein J, Nyhan WL, Kern M. The effects of alanine ingestion on metabolic responses to exercise in cyclists. Amino Acids. 2009 Oct; 37(4):673-80. PMID: 18850309.
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    33. Crutchfield SR, Haas RH, Nyhan WL, Gibson KM. '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. PMID: 18811705; PMCID: PMC2668832.
    34. Hladnik U, Nyhan WL, Bertelli M. Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Arch Neurol. 2008 Sep; 65(9):1240-3. PMID: 18779430.
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    35. Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR, Tein I, Vladutiu GD. CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab. 2008 Aug; 94(4):422-7. PMID: 18550408.
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    36. Nyhan WL. Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids. 2008 Jun; 27(6):559-63. PMID: 18600504.
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    37. Lien J, Nyhan WL, Barshop BA. Fatal initial adult-onset presentation of urea cycle defect. Arch Neurol. 2007 Dec; 64(12):1777-9. PMID: 18071043.
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    38. Al-Odaib A, Rashed M, Page T, Nyhan W, Ozand PT. 3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. Saudi Med J. 2006 May; 27(5):732-3. PMID: 16680273.
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    39. Khanna A, Hart M, Nyhan WL, Hassanein T, Panyard-Davis J, Barshop BA. Domino liver transplantation in maple syrup urine disease. Liver Transpl. 2006 May; 12(5):876-82. PMID: 16628687.
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    40. Hartmann S, Okun JG, Schmidt C, Langhans CD, Garbade SF, Burgard P, Haas D, Sass JO, Nyhan WL, Hoffmann GF. 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. PMID: 16613999.
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    41. 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. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006 May; 129(Pt 5):1201-17. PMID: 16549399; PMCID: PMC3508431.
    42. Schretlen DJ, Ward J, Meyer SM, Yun J, Puig JG, Nyhan WL, Jinnah HA, Harris JC. Behavioral aspects of Lesch-Nyhan disease and its variants. Dev Med Child Neurol. 2005 Oct; 47(10):673-7. PMID: 16174310.
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    43. Nyhan WL. Disorders of purine and pyrimidine metabolism. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):25-33. PMID: 16176880.
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    44. Pinto CS, Jinnah HA, Shirley TL, Nyhan WL, Seifert R. 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. PMID: 15935074.
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    45. Nyhan WL. Lesch-Nyhan Disease. J Hist Neurosci. 2005 Mar; 14(1):1-10. PMID: 15804753.
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    46. De Gregorio L, Jinnah HA, Harris JC, Nyhan WL, Schretlen DJ, Trombley LM, O'Neill JP. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. Mol Genet Metab. 2005 May; 85(1):70-7. PMID: 15862283.
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    47. Nyhan WL. Inherited hyperuricemic disorders. Contrib Nephrol. 2005; 147:22-34. PMID: 15604603.
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    48. Jinnah HA, Harris JC, Nyhan WL, O'Neill JP. The spectrum of mutations causing HPRT deficiency: an update. Nucleosides Nucleotides Nucleic Acids. 2004 Oct; 23(8-9):1153-60. PMID: 15571220.
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    49. Barshop BA, Naviaux RK, McGowan KA, Levine F, Nyhan WL, Loupis-Geller A, Haas RH. Chronic treatment of mitochondrial disease patients with dichloroacetate. Mol Genet Metab. 2004 Sep-Oct; 83(1-2):138-49. PMID: 15464428.
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    50. McGowan KA, Nyhan WL, Barshop BA, Naviaux RK, Yu A, Haas RH, Townsend JJ. The role of methionine in ethylmalonic encephalopathy with petechiae. Arch Neurol. 2004 Apr; 61(4):570-4. PMID: 15096407.
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    51. Nyhan WL, Vuong LU, Broock R. Prenatal diagnosis of Lesch-Nyhan disease. Prenat Diagn. 2003 Oct; 23(10):807-9. PMID: 14558024.
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    52. Ohdoi C, Nyhan WL, Kuhara T. 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. PMID: 12829005.
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    53. Capistrano-Estrada SB, Nyhan WL. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report. Southeast Asian J Trop Med Public Health. 2003; 34 Suppl 3:186-8. PMID: 15906733.
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    54. Prietsch V, Lindner M, Zschocke J, Nyhan WL, Hoffmann GF. Emergency management of inherited metabolic diseases. J Inherit Metab Dis. 2002 Nov; 25(7):531-46. PMID: 12638937.
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    55. Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH. Pyruvate carboxylase deficiency--insights from liver transplantation. Mol Genet Metab. 2002 Sep-Oct; 77(1-2):143-9. PMID: 12359142.
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    56. 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. 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. PMID: 12189492.
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    57. Nyhan WL, Gargus JJ, Boyle K, Selby R, Koch R. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur J Pediatr. 2002 Jul; 161(7):377-9. PMID: 12111189.
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    58. Marsden D, Nyhan WL, Barshop BA. 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. PMID: 11686503.
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    59. Barshop BA, Nyhan WL, Climent C, Rubio V. 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. PMID: 11596657.
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    60. Spruijt L, Naviaux RK, McGowan KA, Nyhan WL, Sheean G, Haas RH, Barshop BA. Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate. Muscle Nerve. 2001 Jul; 24(7):916-24. PMID: 11410919.
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    61. Holzinger A, Röschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, Thuy LP, Nyhan WL, Koch HG, Muntau AC, Roscher AA. 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. PMID: 11406611.
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    62. Bodman M, Smith D, Nyhan WL, Naviaux RK. Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. Arch Neurol. 2001 May; 58(5):811-4. PMID: 11346377.
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    63. 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. Self-injurious behavior: gene-brain-behavior relationships. Ment Retard Dev Disabil Res Rev. 2001; 7(1):3-12. PMID: 11241877.
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    64. Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP. 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. PMID: 11018746.
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    65. Nyhan WL. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect. 2000 Jun; 108 Suppl 3:409-11. PMID: 10852837.
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    66. De Gregorio L, Nyhan WL, Serafin E, Chamoles NA. An unexpected affected female patient in a classical Lesch-Nyhan family. Mol Genet Metab. 2000 Mar; 69(3):263-8. PMID: 10767182.
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    67. Barshop BA, Nyhan WL, Naviaux RK, McGowan KA, Friedlander M, Haas RH. Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. Mol Genet Metab. 2000 Jan; 69(1):64-8. PMID: 10655159.
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    68. Naviaux RK, Markusic D, Barshop BA, Nyhan WL, Haas RH. Sensitive assay for mitochondrial DNA polymerase gamma. Clin Chem. 1999 Oct; 45(10):1725-33. PMID: 10508117.
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    69. Nyhan WL, Bay C, Beyer EW, Mazi M. Neurologic nonmetabolic presentation of propionic acidemia. Arch Neurol. 1999 Sep; 56(9):1143-7. PMID: 10488817.
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    70. Thuy LP, Jurecki E, Nemzer L, Nyhan WL. 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. PMID: 10437643.
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    71. Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM. 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. J Inherit Metab Dis. 1999 Jun; 22(4):414-27. PMID: 10407778.
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    72. Nyhan WL, Zschocke J, Hoffmann G, Stein DE, Bao L, Goodman S. Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria. Mol Genet Metab. 1999 Mar; 66(3):199-204. PMID: 10066389.
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    73. Thuy LP, Belmont J, Nyhan WL. Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. Prenat Diagn. 1999 Feb; 19(2):108-12. PMID: 10215065.
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    74. 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. D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol. 1999 Jan; 45(1):111-9. PMID: 9894884.
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    75. Naviaux RK, Nyhan WL, Barshop BA, Poulton J, Markusic D, Karpinski NC, Haas RH. Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol. 1999 Jan; 45(1):54-8. PMID: 9894877.
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    76. Shelton GD, Nyhan WL, Kass PH, Barshop BA, Haas RH. Analysis of organic acids, amino acids, and carnitine in dogs with lipid storage myopathy. Muscle Nerve. 1998 Sep; 21(9):1202-5. PMID: 9703448.
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    77. Anikster Y, Nyhan WL, Gahl WA. NTBC and alkaptonuria. Am J Hum Genet. 1998 Sep; 63(3):920-1. PMID: 9718357.
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    78. Medina-Kauwe LK, Nyhan WL, Gibson KM, Tobin AJ. Identification of a familial mutation associated with GABA-transaminase deficiency disease. Neurobiol Dis. 1998 Aug; 5(2):89-96. PMID: 9746906.
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    79. Nyhan WL, Rice-Kelts M, Klein J, Barshop BA. Treatment of the acute crisis in maple syrup urine disease. Arch Pediatr Adolesc Med. 1998 Jun; 152(6):593-8. PMID: 9641714.
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    80. Page T, Yu A, Fontenessi J, Nyhan W. A syndrome of seizures and pervasive developmental disorder associated with excessive cellular nucleotidase activity. Adv Exp Med Biol. 1998; 431:789-92. PMID: 9598171.
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    81. Page T, Yu A, Fontanesi J, Nyhan WL. Developmental disorder associated with increased cellular nucleotidase activity. Proc Natl Acad Sci U S A. 1997 Oct 14; 94(21):11601-6. PMID: 9326656.
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    82. Nyhan WL. The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. J Inherit Metab Dis. 1997 Jun; 20(2):171-8. PMID: 9211189.
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    83. Podell M, Shelton GD, Nyhan WL, Wagner SO, Genders A, Oglesbee M, Fenner WR. Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy. Metab Brain Dis. 1996 Sep; 11(3):239-47. PMID: 8869944.
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    84. Nyhan WL, Wong DF. New approaches to understanding Lesch-Nyhan disease. N Engl J Med. 1996 Jun 13; 334(24):1602-4. PMID: 8628345.
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    85. Gibson KM, Bennett MJ, Nyhan WL, Mize CE. Late-onset holocarboxylase synthetase deficiency. J Inherit Metab Dis. 1996; 19(6):739-42. PMID: 8982946.
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    86. Chen E, Nyhan WL, Jakobs C, Greco CM, Barkovich AJ, Cox VA, Packman S. 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. PMID: 8803777.
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    87. Al-Alaiyan S, Al-Omran H, Kattan H, Sakati N, Nyhan WL. Down syndrome and recurrent abortions resulting from Robertsonian translocation 21q21q. Ann Saudi Med. 1995 Jul; 15(4):391-2. PMID: 17590614.
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    88. Nyhan WL, Shelton GD, Jakobs C, Holmes B, Bowe C, Curry CJ, Vance C, Duran M, Sweetman L. D-2-hydroxyglutaric aciduria. J Child Neurol. 1995 Mar; 10(2):137-42. PMID: 7782605.
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    89. Hamilton RL, Haas RH, Nyhan WL, Powell HC, Grafe MR. Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions. J Child Neurol. 1995 Jan; 10(1):25-30. PMID: 7769173.
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    90. Hoffmann GF, Jakobs C, Holmes B, Mitchell L, Becker G, Hartung HP, Nyhan WL. Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria. J Inherit Metab Dis. 1995; 18(2):189-93. PMID: 7564243.
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    91. Haas RH, Marsden DL, Capistrano-Estrada S, Hamilton R, Grafe MR, Wong W, Nyhan WL. Acute basal ganglia infarction in propionic acidemia. J Child Neurol. 1995 Jan; 10(1):18-22. PMID: 7769171.
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    92. Ozand PT, Nyhan WL, al Aqeel A, Christodoulou J. Malonic aciduria. Brain Dev. 1994 Nov; 16 Suppl:7-11. PMID: 7537025.
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    93. Marsden D, Nyhan WL, Sakati NO. Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. Am J Med Genet. 1994 Sep 01; 52(3):334-8. PMID: 7810565.
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    94. Marsden D, Barshop BA, Capistrano-Estrada S, Rice M, Prodanos C, Sartoris D, Wolff J, Jones KL, Spector S, Nyhan WL. Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways. Biochem Med Metab Biol. 1994 Aug; 52(2):145-54. PMID: 7993663.
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    95. Tenenhaus M, Hansbrough JF, Zapata-Sirvent RL, Ohara M, Nyhan W. Supplementation of an elemental enteral diet with alanyl-glutamine decreases bacterial translocation in burned mice. Burns. 1994 Jun; 20(3):220-5. PMID: 8054133.
      View in: PubMed
    96. Zapata-Sirvent RL, Hansbrough JF, Ohara MM, Rice-Asaro M, Nyhan WL. 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. PMID: 8143479.
      View in: PubMed
    97. Capistrano-Estrada S, Marsden DL, Nyhan WL, Newbury RO, Krous HF, Tuchman M. Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency. Pediatr Pathol. 1994 Mar-Apr; 14(2):235-43. PMID: 8008687.
      View in: PubMed
    98. Page T, Barshop B, Yu AL, Nyhan WL. Treatment of Lesch-Nyhan syndrome with AICAR. Adv Exp Med Biol. 1994; 370:353-6. PMID: 7660927.
      View in: PubMed
    99. Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D. Neurological manifestations of organic acid disorders. Eur J Pediatr. 1994; 153(7 Suppl 1):S94-100. PMID: 7957396.
      View in: PubMed
    100. Thuy LP, Nyhan WL. High voltage electrophoresis of amino acids in urine containing ampicillin. Clin Biochem. 1993 Oct; 26(5):389-90. PMID: 8299209.
      View in: PubMed
    101. Buchta R, Nyhan WL, Broock R, Schragg P. Carnitine in adolescents. J Adolesc Health. 1993 Sep; 14(6):440-1. PMID: 8241199.
      View in: PubMed
    102. Hoffmann GF, Seppel CK, Holmes B, Mitchell L, Christen HJ, Hanefeld F, Rating D, Nyhan WL. Quantitative organic acid analysis in cerebrospinal fluid and plasma: reference values in a pediatric population. J Chromatogr. 1993 Jul 23; 617(1):1-10. PMID: 8376520.
      View in: PubMed
    103. Meier-Augenstein W, Hoffmann GF, Holmes B, Jones JL, Nyhan WL, Sweetman L. 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. PMID: 8340451.
      View in: PubMed
    104. Tuchman M, Berry SA, Thuy LP, Nyhan WL. Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia. Pediatrics. 1993 Mar; 91(3):664-6. PMID: 8441580.
      View in: PubMed
    105. Lott IT, Lottenberg S, Nyhan WL, Buchsbaum MJ. Cerebral metabolic change after treatment in biotinidase deficiency. J Inherit Metab Dis. 1993; 16(2):399-407. PMID: 8412000.
      View in: PubMed
    106. Gibson KM, Lee CF, Bennett MJ, Holmes B, Nyhan WL. 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. PMID: 7609453.
      View in: PubMed
    107. Hoffmann GF, Meier-Augenstein W, Stöckler S, Surtees R, Rating D, Nyhan WL. Physiology and pathophysiology of organic acids in cerebrospinal fluid. J Inherit Metab Dis. 1993; 16(4):648-69. PMID: 8412012.
      View in: PubMed
    108. Marsden D, Sege-Petersen K, Nyhan WL, Roschinger W, Sweetman L. An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. Am J Dis Child. 1992 Dec; 146(12):1459-62. PMID: 1456259.
      View in: PubMed
    109. Thuy LP, Nyhan WL. A new quantitative assay for glycosaminoglycans. Clin Chim Acta. 1992 Nov 16; 212(1-2):17-26. PMID: 1486678.
      View in: PubMed
    110. Nyhan WL, Hilton S. Histidinuria: defective transport of histidine. Am J Med Genet. 1992 Nov 15; 44(5):558-61. PMID: 1481808.
      View in: PubMed
    111. Thuy LP, Nyhan WL. A screening method for cystine and homocystine in urine. Clin Chim Acta. 1992 Oct 30; 211(3):175-9. PMID: 1458612.
      View in: PubMed
    112. Sege-Peterson K, Chambers J, Page T, Jones OW, Nyhan WL. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. Hum Mol Genet. 1992 Sep; 1(6):427-32. PMID: 1301916.
      View in: PubMed
    113. Borden M, Holm J, Leslie J, Sweetman L, Nyhan WL, Fleisher L, Nadler H, Lewis D, Scott CR. Hawkinsinuria in two families. Am J Med Genet. 1992 Sep 01; 44(1):52-6. PMID: 1519651.
      View in: PubMed
    114. Marsden DL, Nyhan WL. Neurological diseases in disorders of organic acids. Curr Opin Neurol Neurosurg. 1992 Jun; 5(3):349-54. PMID: 1623263.
      View in: PubMed
    115. Thuy LP, Sweetman L, Nyhan WL. A new immunochemical assay for biotin. Clin Chim Acta. 1991 Oct 31; 202(3):191-7. PMID: 1814646.
      View in: PubMed
    116. Ko FJ, Nyhan WL, Wolff J, Barshop B, Sweetman L. 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism. Pediatr Res. 1991 Oct; 30(4):322-6. PMID: 1956714.
      View in: PubMed
    117. Shebib S, Hugosson C, Sakati N, Nyhan WL. Osteodysplastic variant of primordial dwarfism. Am J Med Genet. 1991 Aug 01; 40(2):146-50. PMID: 1897566.
      View in: PubMed
    118. Barshop BA, Yoshida I, Ajami A, Sweetman L, Wolff JA, Sweetman FR, Prodanos C, Smith M, Nyhan WL. Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism. Pediatr Res. 1991 Jul; 30(1):15-22. PMID: 1909779.
      View in: PubMed
    119. Hoffmann GF, Sweetman L, Bremer HJ, Hunneman DH, Hyánek J, Kozich V, Lehnert W, Nyhan WL, Speidel I, Trefz FK. 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. PMID: 1653652.
      View in: PubMed
    120. Page T, Nyhan WL, Yu AL, Yu J. A syndrome of megaloblastic anemia, immunodeficiency, and excessive nucleotide degradation. Adv Exp Med Biol. 1991; 309B:345-8. PMID: 1781393.
      View in: PubMed
    121. Aramaki S, Lehotay D, Sweetman L, Nyhan WL, Winter SC, Middleton B. 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. PMID: 1861461.
      View in: PubMed
    122. Nazer H, Gunasekaran TS, Sakati NA, Nyhan WL. Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins. Am J Med Genet. 1990 Dec; 37(4):516-8. PMID: 2260598.
      View in: PubMed
    123. Pintos-Morell G, Haas R, Prodanos C, DiMauro S, Nyhan WL. Cytochrome c oxidase deficiency in muscle with dicarboxylic aciduria and renal tubular acidosis. J Child Neurol. 1990 Apr; 5(2):147-52. PMID: 2161032.
      View in: PubMed
    124. Gibson KM, Hoffmann G, Schwall A, Broock RL, Aramaki S, Sweetman L, Nyhan WL, Brandt IK, Wappner RS, Lehnert W. 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. PMID: 2160511.
      View in: PubMed
    125. Gibson KM, Aramaki S, Sweetman L, Nyhan WL, DeVivo DC, Hodson AK, Jakobs C. 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. PMID: 2407302.
      View in: PubMed
    126. Barshop BA, Wolff J, Nyhan WL, Yu A, Prodanos C, Jones G, Sweetman L, Leslie J, Holm J, Green R. Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. Am J Med Genet. 1990 Feb; 35(2):222-8. PMID: 2309761.
      View in: PubMed
    127. Nyhan WL. Structural abnormalities. A systematic approach to diagnosis. Clin Symp. 1990; 42(2):1-32. PMID: 2192827.
      View in: PubMed
    128. Yoshida I, Sweetman L, Kulovich S, Nyhan WL, Robinson BH. 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. PMID: 2104971.
      View in: PubMed
    129. Nyhan WL, Mascarello J, Barshop B, Doroski D, Hirschhorn K. Duplication of 16q and deletion of 15q. Am J Med Genet. 1989 Oct; 34(2):183-6. PMID: 2816995.
      View in: PubMed
    130. Narisawa K, Gibson KM, Sweetman L, Nyhan WL. 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. PMID: 2480857.
      View in: PubMed
    131. Wolff JA, Barshop B, Nyhan WL, Leslie J, Seegmiller JE, Gruber H, Garst M, Winter S, Michals K, Matalon R. 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. PMID: 2771520.
      View in: PubMed
    132. Bonnefont JP, Haas R, Wolff J, Thuy LP, Buchta R, Carroll JE, Saudubray JM, Demaugre F, Nyhan WL. Deficiency of carnitine palmitoyltransferase I. J Child Neurol. 1989 Jul; 4(3):198-203. PMID: 2768784.
      View in: PubMed
    133. Hoffmann G, Aramaki S, Blum-Hoffmann E, Nyhan WL, Sweetman L. 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. PMID: 2702744.
      View in: PubMed
    134. Press GA, Barshop BA, Haas RH, Nyhan WL, Glass RF, Hesselink JR. Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. AJNR Am J Neuroradiol. 1989 Mar-Apr; 10(2):315-21. PMID: 2494850.
      View in: PubMed
    135. Barshop BA, Breuer J, Holm J, Leslie J, Nyhan WL. Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia. J Inherit Metab Dis. 1989; 12(1):72-9. PMID: 2501586.
      View in: PubMed
    136. Page T, Nyhan WL. The spectrum of HPRT deficiency: an update. Adv Exp Med Biol. 1989; 253A:129-33. PMID: 2624181.
      View in: PubMed
    137. Gibson KM, Lohr JL, Broock RL, Hoffmann G, Nyhan WL, Sweetman L, Brandt IK, Wappner RS, Bader PI. 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. PMID: 2543551.
      View in: PubMed
    138. Nyhan WL, Wulfeck BB, Tallal P, Marsden DL. Metabolic correlates of learning disability. Birth Defects Orig Artic Ser. 1989; 25(6):153-69. PMID: 2605319.
      View in: PubMed
    139. Aramaki S, Lehotay D, Nyhan WL, MacLeod PM, Sweetman L. Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia. J Inherit Metab Dis. 1989; 12(1):86-8. PMID: 2501588.
      View in: PubMed
    140. Gibson KM, Nyhan WL. 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. PMID: 2759135.
      View in: PubMed
    141. Gibson KM, Breuer J, Nyhan WL. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. Eur J Pediatr. 1988 Dec; 148(3):180-6. PMID: 3063529.
      View in: PubMed
    142. Gibson KM, Hoffmann G, Nyhan WL, Sweetman L, Berger R, le Coultre R, Smit GP. Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. Eur J Pediatr. 1988 Dec; 148(3):250-2. PMID: 2850914.
      View in: PubMed
    143. Pattarelli PP, Nyhan WL, Gibson KM. 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. PMID: 3140205.
      View in: PubMed
    144. Gibson KM, Nyhan WL, Sweetman L, Narisawa K, Lehnert W, Divry P, Robinson BH, Roth KS, Beemer FA, van Sprang FJ. 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. PMID: 3197737.
      View in: PubMed
    145. Gibson KM, Hoffmann G, Nyhan WL, Aramaki S, Thompson JA, Goodman SI, Johnson DA, Fife RR. 4-Hydroxybutyric aciduria in a patient without ataxia or convulsions. Eur J Pediatr. 1988 Jun; 147(5):529-31. PMID: 3409929.
      View in: PubMed
    146. Najjar H, Mardini M, Tabbaa R, Nyhan WL. Variability of the Holt-Oram syndrome in Saudi individuals. Am J Med Genet. 1988 Apr; 29(4):851-5. PMID: 3400729.
      View in: PubMed
    147. Hoffmann G, Gibson KM, Nyhan WL, Sweetman L. Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts. J Inherit Metab Dis. 1988; 11 Suppl 2:229-32. PMID: 2846965.
      View in: PubMed
    148. Nyhan WL. Multiple carboxylase deficiency. Int J Biochem. 1988; 20(4):363-70. PMID: 3284772.
      View in: PubMed
    149. Harwood I, Rosas F, Edwards DK, Kelso J, Nyhan WL. Cystic fibrosis. West J Med. 1988 Jan; 148(1):62-9. PMID: 3277338.
      View in: PubMed
    150. Gibson KM, Breuer J, Kaiser K, Nyhan WL, McCoy EE, Ferreira P, Greene CL, Blitzer MG, Shapira E, Reverte F. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients. J Inherit Metab Dis. 1988; 11(1):76-87. PMID: 3128690.
      View in: PubMed
    151. Nyhan WL. Inborn errors of biotin metabolism. Arch Dermatol. 1987 Dec; 123(12):1696-1698a. PMID: 3318710.
      View in: PubMed
    152. Hoyme HE, Jones KL, Nyhan WL, Pauli RM, Robinow M. Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation. J Pediatr. 1987 Oct; 111(4):538-43. PMID: 3655984.
      View in: PubMed
    153. Hayasaka K, Tada K, Fueki N, Nakamura Y, Nyhan WL, Schmidt K, Packman S, Seashore MR, Haan E, Danks DM. Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases. J Pediatr. 1987 Jun; 110(6):873-7. PMID: 3585602.
      View in: PubMed
    154. Page T, Nyhan WL, Morena de Vega V. 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. PMID: 3575027.
      View in: PubMed
    155. Petrowski S, Nyhan WL, Reznik V, Sweetman L, Kulovich S, Wolff J, Jones G. Pharmacologic amino acid acylation in the acute hyperammonemia of propionic acidemia. J Neurogenet. 1987 Apr; 4(2-3):87-96. PMID: 3598771.
      View in: PubMed
    156. Jacobsen SJ, Page T, Diala ES, Nyhan WL, Robins RK, Mangum JH. Synergistic activity of purine metabolism inhibitors in cultured human tumor cells. Cancer Lett. 1987 Apr; 35(1):97-104. PMID: 3567890.
      View in: PubMed
    157. Page T, Nyhan WL. Metabolism of leucine in fibroblasts with defects in the leucine catabolic pathway. Int J Biochem. 1987; 19(8):713-6. PMID: 3622904.
      View in: PubMed
    158. Jordá A, Portolés M, Bonilla-Musoles F, Sweetman L, Nyhan WL. Non-ketotic hyperglycinaemia: prenatal diagnosis and detection of heterozygotes with glycine/serine ratios. J Inherit Metab Dis. 1987; 10(2):198-9. PMID: 3116341.
      View in: PubMed
    159. Thuy LP, Zielinska B, Zammarchi E, Pavari E, Vierucci A, Sweetman F, Sweetman L, Nyhan WL. Multiple carboxylase deficiency due to deficiency of biotinidase. J Neurogenet. 1986 Nov; 3(6):357-63. PMID: 3783319.
      View in: PubMed
    160. Hersh JH, Page T, Hand ME, Seegmiller JE, Nyhan WL, Weisskopf B. Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency. Pediatr Neurol. 1986 Sep-Oct; 2(5):302-4. PMID: 3508703.
      View in: PubMed
    161. Nyhan WL, Wilson N, Powers NG, Zwass M, Hilton S, Spector S, Albert D, Juarez P, Kaufman IA. Intussusception. West J Med. 1986 Jun; 144(6):722-7. PMID: 3727531.
      View in: PubMed
    162. Wolff JA, Kulovich S, Yu AL, Qiao CN, Nyhan WL. The effectiveness of benzoate in the management of seizures in nonketotic hyperglycinemia. Am J Dis Child. 1986 Jun; 140(6):596-602. PMID: 3706242.
      View in: PubMed
    163. Sweetman FR, Gibson KM, Sweetman L, Nyhan WL, Chin H, Swartz W, Jones OW. 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. PMID: 3725738.
      View in: PubMed
    164. Wolff J, Nyhan WL, Powell H, Takahashi D, Hutzler J, Hajra AK, Datta NS, Singh I, Moser HW. Myopathy in an infant with a fatal peroxisomal disorder. Pediatr Neurol. 1986 May-Jun; 2(3):141-6. PMID: 3508688.
      View in: PubMed
    165. Narisawa K, Gibson KM, Sweetman L, Nyhan WL, Duran M, Wadman SK. Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria. J Clin Invest. 1986 Apr; 77(4):1148-52. PMID: 3082934.
      View in: PubMed
    166. Middleton B, Bartlett K, Romanos A, Gomez Vazquez J, Conde C, Cannon RA, Lipson M, Sweetman L, Nyhan WL. 3-Ketothiolase deficiency. Eur J Pediatr. 1986 Apr; 144(6):586-9. PMID: 3709573.
      View in: PubMed
    167. Page TM, Broock RL, Nyhan WL, Nieto LH. Use of selective media for distinguishing variant forms of hypoxanthine phosphoribosyl transferase. Clin Chim Acta. 1986 Feb 15; 154(3):195-201. PMID: 3955845.
      View in: PubMed
    168. Wolff JA, Carroll JE, Prodanos C, Haas R, Nyhan WL. Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism. Lancet. 1986 Feb 08; 1(8476):289-91. PMID: 2868163.
      View in: PubMed
    169. Yoshida I, Sweetman L, Nyhan WL. 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. PMID: 3080729.
      View in: PubMed
    170. Nyhan WL, Parkman R, Page T, Gruber HE, Pyati J, Jolly D, Friedmann T. Bone marrow transplantation in Lesch-Nyhan disease. Adv Exp Med Biol. 1986; 195 Pt A:167-70. PMID: 3524132.
      View in: PubMed
    171. Page TM, Jacobsen SJ, Nyhan WL, Mangum JH, Robins RK. The metabolism of 3-deazaguanine and 3-deazaguanosine by human cells in culture. Int J Biochem. 1986; 18(10):957-60. PMID: 2431931.
      View in: PubMed
    172. Manzke H, Gustmann H, Koke HG, Nyhan WL. Hypoxanthine and tetrahydrobiopterin treatment of a patient with features of the Lesch-Nyhan syndrome. Adv Exp Med Biol. 1986; 195 Pt A:197-203. PMID: 3728152.
      View in: PubMed
    173. Nyhan WL, Page T, Gruber HE, Parkman R. Bone marrow transplantation in Lesch-Nyhan disease. Birth Defects Orig Artic Ser. 1986; 22(1):113-7. PMID: 3516239.
      View in: PubMed
    174. Sweetman L, Nyhan WL. Inheritable biotin-treatable disorders and associated phenomena. Annu Rev Nutr. 1986; 6:317-43. PMID: 3089241.
      View in: PubMed
    175. Gibson KM, Nyhan WL, Jaeken J. Inborn errors of GABA metabolism. Bioessays. 1986 Jan; 4(1):24-7. PMID: 3790108.
      View in: PubMed
    176. Yoshida I, Søvik O, Sweetman L, Nyhan WL. 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. PMID: 3841150.
      View in: PubMed
    177. Page T, Nyhan WL. Separation of the intermediates of leucine catabolism by high-performance liquid chromatography. Biochem Med. 1985 Dec; 34(3):297-303. PMID: 4096718.
      View in: PubMed
    178. Otulakowski G, Nyhan W, Sweetman L, Robinson BH. 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. PMID: 2414042.
      View in: PubMed
    179. Powell HC, Haas R, Hall CL, Wolff JA, Nyhan W, Brown BI. Peripheral nerve in type III glycogenosis: selective involvement of unmyelinated fiber Schwann cells. Muscle Nerve. 1985 Oct; 8(8):667-71. PMID: 3864008.
      View in: PubMed
    180. Nyhan WL, Sawyer M, Kearney T, Spector S, Hilton S. Lead intoxication in children. West J Med. 1985 Sep; 143(3):357-64. PMID: 3931357.
      View in: PubMed
    181. Gibson KM, Sweetman L, Jansen I, Brown GK, Haan EA, Danks DM, Nyhan WL. Properties of succinic semialdehyde dehydrogenase in cultured human lymphoblasts. J Neurogenet. 1985 Apr; 2(2):111-22. PMID: 4020531.
      View in: PubMed
    182. Burri BJ, Sweetman L, Nyhan WL. Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. Am J Hum Genet. 1985 Mar; 37(2):326-37. PMID: 3920902.
      View in: PubMed
    183. Wolff JA, Kelts DG, Algert S, Prodanos C, Nyhan WL. Alanine decreases the protein requirements of infants with inborn errors of amino acid metabolism. J Neurogenet. 1985 Feb; 2(1):41-9. PMID: 4020529.
      View in: PubMed
    184. Wolff JA, Strom C, Griswold W, Sweetman F, Kulovich S, Prodanos C, Nyhan WL. Proximal renal tubular acidosis in methylmalonic acidemia. J Neurogenet. 1985 Feb; 2(1):31-9. PMID: 4020528.
      View in: PubMed
    185. Hernández Nieto L, Nyhan WL, Page T, Cubillo Ferreira G, Rodríguez Fernández M, González García T, Cabrera de León A, Santolaria Fernández FJ. [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. PMID: 3974350.
      View in: PubMed
    186. Kelts DG, Ney D, Bay C, Saudubray JM, Nyhan WL. 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. PMID: 3969320.
      View in: PubMed
    187. Nyhan WL. Clinical problems relating to biotin. Ann N Y Acad Sci. 1985; 447:222-4. PMID: 3860174.
      View in: PubMed
    188. Gibson KM, Sweetman L, Nyhan WL, Bowen P. Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria. J Inherit Metab Dis. 1985; 8(2):58. PMID: 3939531.
      View in: PubMed
    189. Wolff JA, Sweetman L, Nyhan WL. 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. PMID: 3939583.
      View in: PubMed
    190. Ney D, Bay C, Saudubray JM, Kelts DG, Kulovich S, Sweetman L, Nyhan WL. An evaluation of protein requirements in methylmalonic acidaemia. J Inherit Metab Dis. 1985; 8(3):132-42. PMID: 3939589.
      View in: PubMed
    191. Gibson KM, Sweetman L, Nyhan WL, Jansen I. Demonstration of 4-aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts. J Inherit Metab Dis. 1985; 8(4):204-8. PMID: 3939544.
      View in: PubMed
    192. Page T, Jacobsen SJ, Smejkal RM, Scheele J, Nyhan WL, Mangum JH, Robins RK. Studies on the mechanism of cytotoxicity of 3-deazaguanosine in human cancer cells. Cancer Chemother Pharmacol. 1985; 15(1):59-62. PMID: 4006050.
      View in: PubMed
    193. Sweetman L, Burri BJ, Nyhan WL. Biotin holocarboxylase synthetase deficiency. Ann N Y Acad Sci. 1985; 447:288-96. PMID: 3860175.
      View in: PubMed
    194. Nyhan WL, Wolff J, Kulovich S, Shumacher AE. Intestinal obstruction due to peritoneal adhesions as a complication of peritoneal dialysis for neonatal hyperammonemia. Eur J Pediatr. 1985 Jan; 143(3):211-3. PMID: 3987717.
      View in: PubMed
    195. Jakobs C, Sweetman L, Nyhan WL, Gruenke L, Craig JC, Wadman SK. Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid. Clin Chim Acta. 1984 Nov 15; 143(2):123-33. PMID: 6391739.
      View in: PubMed
    196. Jakobs C, Dorland L, Sweetman L, Duran M, Nyhan WL, Wadman SK. 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. PMID: 6514446.
      View in: PubMed
    197. Gibson KM, Sweetman L, Nyhan WL, Lenoir G, Divry P. Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria. Eur J Pediatr. 1984 Sep; 142(4):257-9. PMID: 6489377.
      View in: PubMed
    198. Gibson KM, Sweetman L, Nyhan WL, Rating D. Succinic semialdehyde dehydrogenase deficiency. J Neurogenet. 1984 Sep; 1(3):213-8. PMID: 6536727.
      View in: PubMed
    199. Jakobs C, Warner TG, Sweetman L, Nyhan WL. 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. PMID: 6433315.
      View in: PubMed
    200. Jakobs C, Sweetman L, Nyhan WL. Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid. Clin Chim Acta. 1984 Jul 16; 140(2):157-66. PMID: 6467607.
      View in: PubMed
    201. Sovik O, Sweetman L, Gibson KM, Nyhan WL. 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. PMID: 6475954.
      View in: PubMed
    202. Jakobs C, Sweetman L, Nyhan WL. Chemical analysis of succinylacetone and 4-hydroxyphenyllactate in amniotic fluid using selective ion monitoring. Prenat Diagn. 1984 May-Jun; 4(3):187-94. PMID: 6463026.
      View in: PubMed
    203. Greene CL, Cann HM, Robinson BH, Gibson KM, Sweetman L, Holm J, Nyhan WL. 3-Hydroxy-3-methylglutaric aciduria. J Neurogenet. 1984 Apr; 1(2):165-73. PMID: 6085636.
      View in: PubMed
    204. Gibson KM, Jansen I, Sweetman L, Nyhan WL, Rating D, Jakobs C, Divry P. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance. J Inherit Metab Dis. 1984; 7 Suppl 1:95-6. PMID: 6434853.
      View in: PubMed
    205. Hernández Nieto L, Brito Barroso ML, Nyhan WL. [Megaloblastic anemia in Lesch-Nyhan disease]. Sangre (Barc). 1984; 29(4-A):476-8. PMID: 6505934.
      View in: PubMed
    206. Page T, Bakay B, Nyhan WL. Human GMP synthetase. Int J Biochem. 1984; 16(1):117-20. PMID: 6698284.
      View in: PubMed
    207. Yu AL, Matsumoto S, Bleeker L, Alvarez A, Bakay B, Nyhan WL, Kung F. Biochemical basis for the differential effects of deoxycoformycin on human leukemias. Adv Exp Med Biol. 1984; 165 Pt B:305-8. PMID: 6609536.
      View in: PubMed
    208. Jakobs C, Sweetman L, Nyhan WL, Packman S. 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. PMID: 6429435.
      View in: PubMed
    209. Jakobs C, Sweetman L, Wadman SK, Duran M, Saudubray JM, Nyhan WL. 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. PMID: 6698061.
      View in: PubMed
    210. Page T, Bakay B, Nyhan W. Detection of hypoxanthine guanine phosphoribosyl transferase heterozygotes by thin layer chromatography and autoradiography. Adv Exp Med Biol. 1984; 165 Pt A:265-8. PMID: 6720388.
      View in: PubMed
    211. Nussbaum RL, Caskey CT, Gilbert F, Nyhan W. Southern analysis of the Lesch-Nyhan locus in man. Adv Exp Med Biol. 1984; 165 Pt A:417-20. PMID: 6547016.
      View in: PubMed
    212. Page T, Bakay B, Nyhan WL. Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase in intact cells. Adv Exp Med Biol. 1984; 165 Pt B:27-31. PMID: 6720430.
      View in: PubMed
    213. Smejkal RM, Page TT, Boyd VL, Nyhan WL, Jacobsen SJ, Mangum JH, Robins RK. Novel nucleoside inhibitors of guanosine metabolism as antitumor agents. Adv Enzyme Regul. 1984; 22:59-68. PMID: 6475642.
      View in: PubMed
    214. Hayasaka K, Tada K, Kikuchi G, Winter S, Nyhan WL. 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. PMID: 6336599.
      View in: PubMed
    215. Ney D, Bay C, Schneider JA, Kelts D, Nyhan WL. Dietary management of oculocutaneous tyrosinemia in an 11-year-old child. Am J Dis Child. 1983 Oct; 137(10):995-1000. PMID: 6225330.
      View in: PubMed
    216. Gibson KM, Sweetman L, Nyhan WL, Jakobs C, Rating D, Siemes H, Hanefeld F. Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism. Clin Chim Acta. 1983 Sep 15; 133(1):33-42. PMID: 6627675.
      View in: PubMed
    217. Robinson LK, Jones KL, Culler F, Nyhan WL, Sakati N, Jones KL. The Börjeson-Forssman-Lehmann syndrome. Am J Med Genet. 1983 Jul; 15(3):457-68. PMID: 6683929.
      View in: PubMed
    218. Nussbaum RL, Crowder WE, Nyhan WL, Caskey CT. 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. PMID: 6306659.
      View in: PubMed
    219. Sakati NO, Nyhan WL. Congenital cutis laxa and osteoporosis. Am J Dis Child. 1983 May; 137(5):452-4. PMID: 6846273.
      View in: PubMed
    220. Lartigau MT, Martínez A, Bakay B, Page T, Nyhan WL. [Lesch-Nyhan disease studied in intact fibroblasts]. An Esp Pediatr. 1983 May; 18(5):394-8. PMID: 6614674.
      View in: PubMed
    221. Nyhan WL. Cytogenetic diseases. Clin Symp. 1983; 35(1):1-32. PMID: 6242703.
      View in: PubMed
    222. Gibson KM, Sweetman L, Nyhan WL, Page TM, Greene C, Cann HM. 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. PMID: 6185253.
      View in: PubMed
    223. Matsumoto SS, Yu AL, Bleeker LC, Bakay B, Kung FH, Nyhan WL. Biochemical correlates of the differential sensitivity of subtypes of human leukemia to deoxyadenosine and deoxycoformycin. Blood. 1982 Nov; 60(5):1096-102. PMID: 6289941.
      View in: PubMed
    224. Saudubray JM, Coudé FX, Demaugre F, Johnson C, Gibson KM, Nyhan WL. 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. PMID: 7145511.
      View in: PubMed
    225. Ferrández A, Mayayo E, Nyhan WL, Bakay B. [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. PMID: 7137725.
      View in: PubMed
    226. Packman S, Cowan MJ, Golbus MS, Caswell NM, Sweetman L, Burri BJ, Nyhan WL, Baker H. Prenatal treatment of biotin responsive multiple carboxylase deficiency. Lancet. 1982 Jun 26; 1(8287):1435-8. PMID: 6123722.
      View in: PubMed
    227. Mardini MK, Sakati NA, Lewall DB, Christie R, Nyhan WL. Scimitar syndrome. Clin Pediatr (Phila). 1982 Jun; 21(6):350-4. PMID: 7075097.
      View in: PubMed
    228. Christie R, Bay C, Kaufman IA, Bakay B, Borden M, Nyhan WL. Lesch-Nyhan disease: clinical experience with nineteen patients. Dev Med Child Neurol. 1982 Jun; 24(3):293-306. PMID: 7095300.
      View in: PubMed
    229. Page T, Bakay B, Nyhan WL. An improved procedure for detection of hypoxanthine--guanine phosphoribosyl transferase heterozygotes. Clin Chem. 1982 May; 28(5):1181-4. PMID: 7074901.
      View in: PubMed
    230. Page T, Bakay B, Nyhan WL. Kinetic studies of normal and variant hypoxanthine phosphoribosyltransferases in intact fibroblasts. Anal Biochem. 1982 May 01; 122(1):144-7. PMID: 7103079.
      View in: PubMed
    231. Carmena R, Nyhan WL, Ascaso J, Bakay B, Soriano J, Tebar J. [Lesch-Nyhan disease. Study of a new patient (author's transl)]. Med Clin (Barc). 1982 Jan 25; 78(2):59-64. PMID: 7070131.
      View in: PubMed
    232. Gottlieb RP, Koppel MM, Nyhan WL, Bakay B, Nissinen E, Borden M, Page T. 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. PMID: 6820438.
      View in: PubMed
    233. Sweetman L, Nyhan WL, Sakati NA, Ohlsson A, Mange MS, Boychuk RB, Kaye R. Organic aciduria in neonatal multiple carboxylase deficiency. J Inherit Metab Dis. 1982; 5(1):49-53. PMID: 6820414.
      View in: PubMed
    234. Nyhan WL, Rubio V, Jordá A, Grisolia S, Gutierez F, Canosa C. Transient hyperammonemias in infants with and without organic acidemia. Adv Exp Med Biol. 1982; 153:331-8. PMID: 7164908.
      View in: PubMed
    235. Koenig HM, Stein MT, Waecker N, Nyhan WL. Neutropenia of childhood. West J Med. 1982 Jan; 136(1):29-34. PMID: 7072238.
      View in: PubMed
    236. Burri BJ, Sweetman L, Nyhan WL. 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. PMID: 6798072.
      View in: PubMed
    237. Wolf B, Hsia YE, Sweetman L, Gravel R, Harris DJ, Nyhan WL. Propionic acidemia: a clinical update. J Pediatr. 1981 Dec; 99(6):835-46. PMID: 7031206.
      View in: PubMed
    238. Stapleton FB, Nyhan WL, Borden M, Kaufman IA. Renal pathogenesis of familial hyperuricemia: studies in two kindreds. Pediatr Res. 1981 Nov; 15(11):1447-53. PMID: 7301465.
      View in: PubMed
    239. Sweetman L, Surh L, Baker H, Peterson RM, Nyhan WL. Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin. Pediatrics. 1981 Oct; 68(4):553-8. PMID: 7322688.
      View in: PubMed
    240. Rosenberg RN, Ivy N, Kirkpatrick J, Bay C, Nyhan WL, Baskin F. Joseph disease and Huntington disease: protein patterns in fibroblasts and brain. Neurology. 1981 Aug; 31(8):1003-14. PMID: 6455606.
      View in: PubMed
    241. Hiraga K, Kochi H, Hayasaka K, Kikuchi G, Nyhan WL. 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. PMID: 6790577.
      View in: PubMed
    242. Yu AL, Bakay B, Kung FH, Nyhan WL. 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. PMID: 6972800.
      View in: PubMed
    243. Wolf B, Hsia YE, Sweetman L, Feldman G, Boychuk RB, Bart RD, Crowell DH, Di Mauro RM, Nyhan WL. Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. Pediatrics. 1981 Jul; 68(1):113-8. PMID: 6787561.
      View in: PubMed
    244. Mardini MK, Sakati NA, Nyhan WL. 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. PMID: 7015813.
      View in: PubMed
    245. 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. New metabolites in isovaleric acidemia. Clin Chim Acta. 1981 Mar 05; 110(2-3):187-203. PMID: 6452974.
      View in: PubMed
    246. Trauner DA, Page T, Greco C, Sweetman L, Kulovich S, Nyhan WL. Progressive neurodegenerative disorder in a patient with nonketotic hyperglycinemia. J Pediatr. 1981 Feb; 98(2):272-5. PMID: 6780675.
      View in: PubMed
    247. Page T, Bakay B, Nissinen E, Nyhan WL. Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity. J Inherit Metab Dis. 1981; 4(4):203-6. PMID: 6796771.
      View in: PubMed
    248. Naylor G, Sweetman L, Nyhan WL, Hornbeck C, Griffiths J, Mörch L, Brandänge S. 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. PMID: 7002368.
      View in: PubMed
    249. Buchanan PD, Kahler SG, Sweetman L, Nyhan WL. Pitfalls in the prenatal diagnosis of propionic acidemia. Clin Genet. 1980 Sep; 18(3):177-83. PMID: 6934053.
      View in: PubMed
    250. Sweetman L, Nyhan WL, Tauner DA, Merritt TA, Singh M. Glutaric aciduria Type II. J Pediatr. 1980 Jun; 96(6):1020-6. PMID: 7373461.
      View in: PubMed
    251. Nyhan WL, Johnson HG, Kaufman IA, Jones KL. Serotonergic approaches to the modification of behavior in the Lesch-Nyhan Syndrome. Appl Res Ment Retard. 1980; 1(1-2):25-40. PMID: 6978104.
      View in: PubMed
    252. Sweetman L, Nyhan WL, Cravens J, Zomer Y, Plunket DC. Propionic acidaemia presenting with pancytopaenia in infancy. J Inherit Metab Dis. 1980; 2(3):65-9. PMID: 6796762.
      View in: PubMed
    253. Becker MA, Raivio KO, Bakay B, Adams WB, Nyhan WL. Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. J Clin Invest. 1980 Jan; 65(1):109-20. PMID: 6243137.
      View in: PubMed
    254. Becker MA, Raivio KO, Bakay B, Adams WB, Nyhan WL. Superactive phosphoribosylpyrophosphate synthetase with altered regulatory and catalytic properties. Adv Exp Med Biol. 1980; 122A:387-92. PMID: 6158850.
      View in: PubMed
    255. Bakay B, Nissinen E, Sweetman L, Francke U, Nyhan WL. Variation in human HPRT and its relationship to neurologic and behavioral manifestations. Adv Exp Med Biol. 1980; 122A:317-25. PMID: 7424650.
      View in: PubMed
    256. Nyhan WL. Understanding inherited metabolic disease. Clin Symp. 1980; 32(5):1-36. PMID: 6113913.
      View in: PubMed
    257. Bakay B, Nissinen E, Sweetman L, Francke U, Nyhan WL. 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. PMID: 523196.
      View in: PubMed
    258. Coude FX, Sweetman L, Nyhan WL. 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. PMID: 500823.
      View in: PubMed
    259. Sweetman L, Weyler W, Shafai T, Young PE, Nyhan WL. Prenatal diagnosis of propionic acidemia. JAMA. 1979 Sep 07; 242(10):1048-52. PMID: 470045.
      View in: PubMed
    260. Stein M, Stapleton FB, Rufner D, Edwards DK, Nyhan WL. Factitious disease in pediatrics. West J Med. 1979 Sep; 131(3):219-24. PMID: 18748471.
      View in: PubMed
    261. Kuroda Y, Kline JJ, Sweetman L, Nyhan WL, Groshong TD. Abnormal pyruvate and alpha-ketoglutarate dehydrogenase complexes in a patient with lactic acidemia. Pediatr Res. 1979 Aug; 13(8):928-31. PMID: 481967.
      View in: PubMed
    262. Cowan MJ, Wara DW, Packman S, Ammann AJ, Yoshino M, Sweetman L, Nyhan W. Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. Lancet. 1979 Jul 21; 2(8134):115-8. PMID: 88554.
      View in: PubMed
    263. Rosenberg RN, Thomas L, Baskin F, Kirkpatrick J, Bay C, Nyhan WL. Joseph disease: protein patterns in fibroblasts and brain. Neurology. 1979 Jul; 29(7):917-26. PMID: 572941.
      View in: PubMed
    264. Castells S, Chakrabarti C, Winsberg BG, Hurwic M, Perel JM, Nyhan WL. 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. PMID: 312282.
      View in: PubMed
    265. Stein M, Buchta R, Raszynski A, Nyhan WL. Intussusception. West J Med. 1979 Jan; 130(1):35-42. PMID: 419748.
      View in: PubMed
    266. Yu AL, Kung FH, Bakay B, Nyhan WL. In vitro and in vivo effect of deoxycoformycin in human T cell leukemia. Adv Exp Med Biol. 1979; 122B:373-9. PMID: 397762.
      View in: PubMed
    267. Agha A, Sakati NO, Higginbottom MC, Jones KL, Bay C, Nyhan WL. Two forms of cutis laxa presenting in the newborn period. Acta Paediatr Scand. 1978 Nov; 67(6):775-80. PMID: 102106.
      View in: PubMed
    268. Mardini MK, Ghandour M, Sakati NA, Nyhan WL. Johanson-Blizzard syndrome in a large inbred kindred with three involved members. Clin Genet. 1978 Nov; 14(5):247-50. PMID: 709902.
      View in: PubMed
    269. Ballard RA, Vinocur B, Reynolds JW, Wennberg RP, Merritt A, Sweetman L, Nyhan WL. Transient hyperammonemia of the preterm infant. N Engl J Med. 1978 Oct 26; 299(17):920-5. PMID: 692597.
      View in: PubMed
    270. Canty TG, Goscienski P, Edwards D, Daley S, Nyhan WL. Specialty conference. Staphylococcal pneumonia. West J Med. 1978 Sep; 129(3):201-9. PMID: 706357.
      View in: PubMed
    271. Higginbottom MC, Sweetman L, Nyhan WL. 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. PMID: 683264.
      View in: PubMed
    272. Nyhan WL. The Lesch-Nyhan syndrome. Dev Med Child Neurol. 1978 Jun; 20(3):376-80. PMID: 307504.
      View in: PubMed
    273. Bakay B, Graf M, Carey S, Nissinen E, Nyhan WL. Reexpression of HPRT activity following cell fusion with polyethylene glycol. Biochem Genet. 1978 Apr; 16(3-4):227-37. PMID: 209782.
      View in: PubMed
    274. Sweetman L, Hoch MA, Bakay B, Borden M, Lesh P, Nyhan WL. A distinct human variant of hypoxanthine-guanine phosphoribosyl transferase. J Pediatr. 1978 Mar; 92(3):385-9. PMID: 632976.
      View in: PubMed
    275. Sweetman L, Weyler W, Nyhan WL, de Céspedes C, Loria AR, Estrada Y. Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency. Biomed Mass Spectrom. 1978 Mar; 5(3):198-207. PMID: 630060.
      View in: PubMed
    276. de Cespedes C, Loria AR, Estrada Y, Sweetman L, Nyhan WL. The diagnosis and management of propionic acidemia. Monogr Hum Genet. 1978; 9:80-3. PMID: 732855.
      View in: PubMed
    277. Rosenberg RN, Nyhan WL, Coutinho P, Bay C. 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. PMID: 735930.
      View in: PubMed
    278. Bakay B, Nissinen EA, Sweetman L, Nyhan WL. 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. PMID: 723885.
      View in: PubMed
    279. Thoene J, Sweetman L, Shafai T, Kennaway N, Fellman J, Nyhan W. Tyrosinemia associated with perinatal infection with cytomegalovirus. J Pediatr. 1978 Jan; 92(1):108-12. PMID: 201739.
      View in: PubMed
    280. Senter TP, Jones KL, Sakati N, Nyhan WL. Atypical ichthyosiform erythroderma and congenital neurosensory deafness--a distinct syndrome. J Pediatr. 1978 Jan; 92(1):68-72. PMID: 338874.
      View in: PubMed
    281. Ando T, Nyhan WL, Bicknell J, Harris R, Stern J. Non-ketotic hyperglycinaemia in a family with an unusual phenotype. J Inherit Metab Dis. 1978; 1(3):79-83. PMID: 116082.
      View in: PubMed
    282. Shafai T, Sweetman L, Weyler W, Goodman SI, Fennessey PV, Nyhan WL. Propionic acidemia with severe hyperammonemia and defective glycine metabolism. J Pediatr. 1978 Jan; 92(1):84-6. PMID: 619088.
      View in: PubMed
    283. Nyhan WL. Ataxia and disorders of purine metabolism: defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia. Adv Neurol. 1978; 21:279-87. PMID: 735927.
      View in: PubMed
    284. Collins DL, Marks L, Edwards D, Kirkpatrick SE, Nyhan WL. Specialty conference: management of infants with diaphragmatic hernia. West J Med. 1977 Dec; 127(6):479-86. PMID: 595586.
      View in: PubMed
    285. Sweetman L, Bates SP, Hull D, Nyhan WL. Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria. Pediatr Res. 1977 Nov; 11(11):1144-7. PMID: 917614.
      View in: PubMed
    286. Trauner D, Sweetman L, Holm J, Kulovich S, Nyhan WL. Biochemical correlates of illness and recovery in Reye's syndrome. Ann Neurol. 1977 Sep; 2(3):238-41. PMID: 617569.
      View in: PubMed
    287. Weyler W, Sweetman L, Maggio DC, Nyhan WL. 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. PMID: 858206.
      View in: PubMed
    288. Francke U, Felsenstein J, Gartler SM, Nyhan WL, Seegmiller JE. Answer to criticism of Morton and Lalouel. Am J Hum Genet. 1977 May; 29(3):307-11. PMID: 17948539.
      View in: PubMed
    289. Nyhan WL. An approach to the diagnosis of overwhelming metabolic disease in early infancy. Curr Probl Pediatr. 1977 Apr; 1-20. PMID: 856539.
      View in: PubMed
    290. Thoene J, Batshaw M, Spector E, Kulovich S, Brusilow S, Walser M, Nyhan W. Neonatal citrllinemia: treatment with keto-analogues of essential amino acids. J Pediatr. 1977 Feb; 90(2):218-24. PMID: 830913.
      View in: PubMed
    291. Sweetman L, Borden M, Kulovich S, Kaufman I, Nyhan WL. Altered excreton of 5-hydroxyindoleacetic acid and glycine in patients with the Lesch-Nyhan disease. Adv Exp Med Biol. 1977; 76A:398-404. PMID: 300980.
      View in: PubMed
    292. Bakay B, Graf M, Carey S, Nyhan WL. Study of immunoreactive material in patients with deficient HPRT activity. Adv Exp Med Biol. 1977; 76A:361-9. PMID: 855716.
      View in: PubMed
    293. Bakay B, Francke U, Nyhan WL, Seegmiller JE. Experience with detection of heterozygous carriers and prenatal diagnosis of Lesch-Nyhan disease. Adv Exp Med Biol. 1977; 76A:351-8. PMID: 855715.
      View in: PubMed
    294. Nyhan WL. Genetic heterogeneity at the locus for hypoxanthine-guanine phosphoribosyltransferase. Ciba Found Symp. 1977; (48):65-81. PMID: 305334.
      View in: PubMed
    295. Trauner DA, Nyhan WL, Sweetman L. Jamaican vomiting sickness and Reye's syndrome. N Engl J Med. 1976 Dec 23; 295(26):1481-2. PMID: 995147.
      View in: PubMed
    296. Bakay B, Becker MA, Nyhan WL. Reaction of antibody to normal human hypoxanthine phosphoribosyltransferase with products of mutant genes. Arch Biochem Biophys. 1976 Dec; 177(2):415-26. PMID: 1035076.
      View in: PubMed
    297. Stein M, Blayney D, Feit T, Goergen TG, Micik S, Nyhan WL. Acute iron poisoning in children. West J Med. 1976 Oct; 125(4):289-97. PMID: 1032228.
      View in: PubMed
    298. Nyhan WL. Behavior in the Lesch--Nyhan syndrome. J Autism Child Schizophr. 1976 Sep; 6(3):235-52. PMID: 1086851.
      View in: PubMed
    299. Rosenberg RN, Nyhan WL, Bay C, Shore P. Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder. Neurology. 1976 Aug; 26(8):703-14. PMID: 945867.
      View in: PubMed
    300. Keller MA, Jones KL, Nyhan WL, Francke U, Dixson B. A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. J Pediatr. 1976 Apr; 88(4 Pt 1):589-91. PMID: 1255317.
      View in: PubMed
    301. Francke U, Felsenstein J, Gartler SM, Migeon BR, Dancis J, Seegmiller JE, Bakay F, Nyhan WL. The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet. 1976 Mar; 28(2):123-37. PMID: 1266847.
      View in: PubMed
    302. Rosenberg RN, Nyhan WL, Bay C. Autosomal dominant striatonigral degeneration: a clinical, pathological, and biochemical study of a new genetic disorder. Trans Am Neurol Assoc. 1976; 101:78-80. PMID: 1028273.
      View in: PubMed
    303. Nyhan WL. Editorial: Prenatal treatment of methylmalonic acidemia. N Engl J Med. 1975 Aug 14; 293(7):353-4. PMID: 1152927.
      View in: PubMed
    304. Wadlington WB, Kilroy A, Ando T, Sweetman L, Nyhan WL. Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis. J Pediatr. 1975 May; 86(5):707-12. PMID: 1133651.
      View in: PubMed
    305. Bakay B, Nyhan WL. Heterogeneity of hypoxanthine guanine phosphoribosyl transferase from human erythrocytes. Arch Biochem Biophys. 1975 May; 168(1):26-34. PMID: 1169910.
      View in: PubMed
    306. Bakay B, Nyhan WL, Croce CM, Koprowski H. Reversion in expression of hypoxanthine-guanine phosphoribosyl transferase following cell hybridization. J Cell Sci. 1975 May; 17(3):567-78. PMID: 1170183.
      View in: PubMed
    307. Trauner DA, Nyhan WL, Sweetman L. Short-chain organic acidemia and Reye's syndrome. Neurology. 1975 Mar; 25(3):296-8. PMID: 1167641.
      View in: PubMed
    308. Landis DM, Rosenberg RN, Landis SC, Schut L, Nyhan WL. Olivopontocerebellar degeneration. Clinical and ultrastructural abnormalities. Arch Neurol. 1974 Nov; 31(5):295-307. PMID: 4370236.
      View in: PubMed
    309. Francke U, Bakay B, Connor JD, Coldwell JG, Nyhan WL. 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. PMID: 4842775.
      View in: PubMed
    310. Yujnovsky O, Ayala D, Vincitorio A, Viale H, Sakati N, Nyhan WL. A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations. Clin Genet. 1974; 6(1):51-9. PMID: 4372010.
      View in: PubMed
    311. Nyhan WL. The Lesch-Nyhan syndrome. Adv Nephrol Necker Hosp. 1974; 3:59-70. PMID: 4219709.
      View in: PubMed
    312. Borden M, Nyhan WL, Bakay B. Increased activity of adenine phosphoribosyltransferase in erythrocytes of normal newborn infants. Pediatr Res. 1974 Jan; 8(1):31-6. PMID: 4358452.
      View in: PubMed
    313. Nyhan WL. Malformation syndromes in human genetic disease. Plast Reconstr Surg. 1973 Sep; 52(3):237-45. PMID: 4269199.
      View in: PubMed
    314. Croce CM, Bakay B, Nyhan WL, Koprowski H. Reexpression of the rat hypoxanthine phosphoribosyltransferase gene in rat-human hybrids. Proc Natl Acad Sci U S A. 1973 Sep; 70(9):2590-4. PMID: 4354857.
      View in: PubMed
    315. Bakay B, Croce CM, Koprowski H, Nyhan WL. 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. PMID: 4516198.
      View in: PubMed
    316. Nyhan WL. The Lesch-Nyhan syndrome. Birth Defects Orig Artic Ser. 1973 Mar; 9(2):41-2. PMID: 4803707.
      View in: PubMed
    317. Francke U, Bakay B, Nyhan WL. Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates. J Pediatr. 1973 Mar; 82(3):472-8. PMID: 4349227.
      View in: PubMed
    318. Nyhan WL, Fawcett N, Ando T, Rennert OM, Julius RL. Response to dietary therapy in B 12 unresponsive methylmalonic acidemia. Pediatrics. 1973 Mar; 51(3):539-48. PMID: 4707869.
      View in: PubMed
    319. Nyhan WL. The Lesch-Nyhan syndrome. Annu Rev Med. 1973; 24:41-60. PMID: 4575865.
      View in: PubMed
    320. Rasmussen K, Ando T, Nyhan WL, Hull D, Cottom D, Kilroy AW, Wadlington W. Excretion of tiglylglycine in propionic acidemia. J Pediatr. 1972 Nov; 81(5):970-2. PMID: 5086724.
      View in: PubMed
    321. Ando T, Rasmussen K, Nyhan WL, Hull D. 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. PMID: 4507604.
      View in: PubMed
    322. Bakay B, Nyhan WL. 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. PMID: 4341698.
      View in: PubMed
    323. Sweetman L, Nyhan WL. Further studies of the enzyme composition of mutant cells in X-linked uric aciduria. Arch Intern Med. 1972 Aug; 130(2):214-20. PMID: 5065734.
      View in: PubMed
    324. Bakay B, Nyhan WL, Fawcett N, Kogut MD. Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme. Biochem Genet. 1972 Aug; 7(1):73-85. PMID: 5041886.
      View in: PubMed
    325. Nyhan WL. Clinical features of the Lesch-Nyhan syndrome. Arch Intern Med. 1972 Aug; 130(2):186-92. PMID: 5050553.
      View in: PubMed
    326. Rasmussen K, Ando T, Nyhan WL, Hull D, Cottom D, Donnell G, Wadlington W, Kilroy AW. Excretion of propionylglycine in propionic acidaemia. Clin Sci. 1972 Jun; 42(6):665-71. PMID: 5033805.
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    327. Ando T, Nyhan WL, Connor JD, Rasmussen K, Donnell G, Barnes N, Cottom D, Hull D. The oxidation of glycine and propionic acid in propionic acidemia with ketotic hyperglycinemia. Pediatr Res. 1972 Jun; 6(6):576-83. PMID: 5046977.
      View in: PubMed
    328. Ando T, Rasmussen K, Wright JM, Nyhan WL. 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. PMID: 5016650.
      View in: PubMed
    329. Bakay B, Nyhan WL. Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome. Biochem Genet. 1972 Apr; 6(2):139-46. PMID: 4354248.
      View in: PubMed
    330. Nyhan WL. 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. PMID: 5046967.
      View in: PubMed
    331. Bryson Y, Sakati N, Nyhan WL, Fish CH. Self-mutilative behavior in the Cornelia de Lange syndrome. Am J Ment Defic. 1971 Nov; 76(3):319-24. PMID: 5148360.
      View in: PubMed
    332. Sweetman L, Nyhan WL. Studies on the mechanism of adsorption of purines in sephadex G-10 chromatography. J Chromatogr. 1971 Jul 22; 59(2):349-66. PMID: 5110718.
      View in: PubMed
    333. Sakati N, Nyhan WL, Tisdale WK. 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. PMID: 4253694.
      View in: PubMed
    334. Shear CS, Nyhan WL, Frost P, Weinstein GD. Syndrome of unilateral ectromelia, psoriasis and central nervous system anomalies. Birth Defects Orig Artic Ser. 1971 Jun; 7(8):197-203. PMID: 5173260.
      View in: PubMed
    335. Ando T, Rasmussen K, Nyhan WL, Donnell GN, Barnes ND. Propionic acidemia in patients with ketotic hyperglycinemia. J Pediatr. 1971 May; 78(5):827-32. PMID: 5581587.
      View in: PubMed
    336. Bakay B, Nyhan WL. The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis. Biochem Genet. 1971 Feb; 5(1):81-90. PMID: 5582066.
      View in: PubMed
    337. Sweetman L, Nyhan WL. 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. PMID: 5134918.
      View in: PubMed
    338. Ando T, Nyhan WL. A simple screening method for detecting isovalerylglycine in urine patients with isovaleric acidemia. Clin Chem. 1970 May; 16(5):420-2. PMID: 5443766.
      View in: PubMed
    339. Frost P, Weinstein GD, Nyhan WL. Diagnosis of Lesch-Nyhan syndrome by direct study of skin specimens. JAMA. 1970 Apr 13; 212(2):316-8. PMID: 5467237.
      View in: PubMed
    340. Kogut MD, Donnell GN, Nyhan WL, Sweetman L. 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. PMID: 5416258.
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    341. Greene ML, Nyhan WL, Seegmiller JE. Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group. Am J Hum Genet. 1970 Jan; 22(1):50-4. PMID: 5411648.
      View in: PubMed
    342. Nyhan WL, Bakay B, Connor JD, Marks JF, Keele DK. 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. PMID: 5263751.
      View in: PubMed
    343. Bejar RL, Smith GF, Park S, Spellacy WN, Wolfson SL, Nyhan WL. Cerebral gigantism: concentrations of amino acids in plasma and muscle. J Pediatr. 1970 Jan; 76(1):105-11. PMID: 4312004.
      View in: PubMed
    344. Baumgartner R, Ando T, Nyhan WL. Nonketotic hyperglycinemia. J Pediatr. 1969 Dec; 75(6):1022-30. PMID: 5352828.
      View in: PubMed
    345. Sweetman L, Nyhan WL. Quantitation of oxypurines and allopurinol metabolites in biological fluids by cation-exchange chromatography. Anal Biochem. 1969 Oct 01; 31(1):358-65. PMID: 5380707.
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    346. Gerritsen T, Nyhan WL, Rehberg ML, Ando T. Metabolism of glyoxylate in nonketotic hyperglycinemia. Pediatr Res. 1969 Jul; 3(4):269-74. PMID: 5807055.
      View in: PubMed
    347. Morrow G, Barness LA, Auerbach VH, DiGeorge AM, Ando T, Nyhan WL. Observations on the coexistence of methylmalonic acidemia and glycinemia. J Pediatr. 1969 May; 74(5):680-90. PMID: 5778824.
      View in: PubMed
    348. Nyhan WL, James JA, Teberg AJ, Sweetman L, Nelson LG. A new disorder of purine metabolism with behavioral manifestations. J Pediatr. 1969 Jan; 74(1):20-7. PMID: 5782823.
      View in: PubMed
    349. Nyhan WL, Sweetman L, Lesch M. Effects of the uricogenic agent, 2-ethylamino-1,3,4-thiadiazole in hypoxanthine-guanine phosphoribosyl transferase deficiency. Metabolism. 1968 Oct; 17(10):846-53. PMID: 4877987.
      View in: PubMed
    350. Ando T, Nyhan WL, Gerritsen T, Gong L, Heiner DC, Bray PF. Metabolism of glycine in the nonketotic form of hyperglycinemia. Pediatr Res. 1968 Jul; 2(4):254-63. PMID: 5669662.
      View in: PubMed
    351. Ziter FA, Bray PF, Madsen JA, Nyhan WL. The clinical findings in a patient with nonketotic hyperglycinemia. Pediatr Res. 1968 Jul; 2(4):250-3. PMID: 5691357.
      View in: PubMed
    352. Nyhan WL. Clinical features of the Lesch-Nyhan syndrome. Introduction--clinical and genetic features. Fed Proc. 1968 Jul-Aug; 27(4):1027-33. PMID: 5658468.
      View in: PubMed
    353. Nyhan WL. Lesch-Nyhan syndrome. Summary of clinical features. Fed Proc. 1968 Jul-Aug; 27(4):1034-41. PMID: 5658469.
      View in: PubMed
    354. Migeon BR, Der Kaloustian VM, Nyhan WL, Yough WJ, Childs B. X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations. Science. 1968 Apr 26; 160(3826):425-7. PMID: 4868511.
      View in: PubMed
    355. Sweetman L, Nyhan WL. Sephadex G-10 adsorption chromatography of purines and related compounds. J Chromatogr. 1968 Feb 20; 32(4):662-75. PMID: 5645559.
      View in: PubMed
    356. Nyhan WL, Sweetman L, Carpenter DG, Carter CH, Hoefnagel D. Effects of azathiprine in a disorder of uric acid metabolism and cerebral function. J Pediatr. 1968 Jan; 72(1):111-8. PMID: 5634933.
      View in: PubMed
    357. Sweetman L, Nyhan WL. Excretion of hypoxanthine and xanthine in a genetic disease of purine metabolism. Nature. 1967 Aug 19; 215(5103):859-60. PMID: 6049739.
      View in: PubMed
    358. Nyhan WL. Treatment of hyperglycinemia. Am J Dis Child. 1967 Jan; 113(1):129-33. PMID: 6015889.
      View in: PubMed
    359. Nyhan WL. A disorder of uric acid metabolism and cerebral function in childhood. Arthritis Rheum. 1965 Oct; 8(5):659-64. PMID: 5859539.
      View in: PubMed
    360. NYHAN WL, CHILDS B. HYPERGLYCINEMIA. V. THE MISCIBLE POOL AND TURNOVER RATE OF GLYCINE AND THE FORMATION OF SERINE. J Clin Invest. 1964 Dec; 43:2404-9. PMID: 14234837.
      View in: PubMed
    361. NYHAN WL, GREEN M. HYPERTHYROIDISM IN A PATIENT WITH A PITUITARY ADENOMA. J Pediatr. 1964 Oct; 65:583-9. PMID: 14216646.
      View in: PubMed
    362. CHILDS B, NYHAN WL. FURTHER OBSERVATIONS OF A PATIENT WITH HYPERGLYCINEMIA. Pediatrics. 1964 Mar; 33:403-12. PMID: 14129085.
      View in: PubMed
    363. CHILDS B, NYHAN WL, BORDEN M, BARD L, COOKE RE. Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I. Pediatrics. 1961 Apr; 27:522-38. PMID: 13693094.
      View in: PubMed
    364. NYHAN WL, BORDEN M, CHILDS B. 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. PMID: 13729969.
      View in: PubMed
    365. NYHAN WL, FOUSEK MD. Septicemia of the newborn. Pediatrics. 1958 Aug; 22(2):268-78. PMID: 13578513.
      View in: PubMed
    366. GREEN M, NYHAN WL, FOUSEK MD. Acute hematogenous osteomyelitis. Pediatrics. 1956 Mar; 17(3):368-82. PMID: 13297518.
      View in: PubMed
    367. NYHAN WL, RECTANUS DR, FOUSEK MD. Hemophilus influenzae type b pneumonia. Pediatrics. 1955 Jul; 16(1):31-42. PMID: 14394736.
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