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    William Nyhan

    TitleEmeritus Professor
    SchoolUniversity of California, San Diego
    DepartmentPediatrics
    Address9500 Gilman Drive #0830
    CA La Jolla 92093
    Phone619-543-5337
    vCardDownload vCard

      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

      Collapse Bibliographic 
      Collapse Publications
      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. Nguyen KV, Silva S, Troncoso M, Naviaux RK, Nyhan W. 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.
        View in: PubMed
      2. Nguyen KV, Nyhan W. Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease. Neurosci Lett. 2017 Feb 10; 643:52-58. PMID: 28192196.
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      3. Nguyen KV, Leydiker K, Wang R, Abdenur J, Nyhan W. 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 Jan 19; 1-11. PMID: 28102781.
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      4. Nguyen KV, Naviaux RK, Nyhan W. 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 Jan 03; 1-7. PMID: 28045594.
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      5. 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. 2016 Nov 18. PMID: 27858372.
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      6. Nyhan W, Gangoiti JA. Hereditary Orotic Aciduria and the Excretion of Orotidine. Neuropediatrics. 2016 Dec; 47(6):408-409. PMID: 27574833.
        View in: PubMed
      7. Nguyen KV, Nyhan W. Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome. Nucleosides Nucleotides Nucleic Acids. 2016 Aug 2; 35(8):426-33. PMID: 27379977.
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      8. Khasnavis T, Reiner G, Sommerfeld B, Nyhan W, 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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      9. Khanna A, Gish R, Winter SC, Nyhan W, Barshop BA. Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia. JIMD Rep. 2016; 25:87-94. PMID: 26219882.
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      10. Auler K, Broock R, Nyhan W. 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; 86:17.19.1-17.19.10. PMID: 26132002.
        View in: PubMed
      11. Nguyen KV, Nyhan W. Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene. Nucleosides Nucleotides Nucleic Acids. 2015 Jun 3; 34(6):442-7. PMID: 25965333.
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      12. Gertsman I, Barshop BA, Panyard-Davis J, Gangoiti JA, Nyhan W. Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria. JIMD Rep. 2015; 24:13-20. PMID: 25665838.
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      13. Gertsman I, Gangoiti JA, Nyhan W, 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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      14. 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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      15. 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 W, Naviaux RK. Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease. J Am Soc Nephrol. 2013 Nov; 24(11):1901-12. PMID: 23949796.
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      16. Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan W, 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.
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      17. Dolcetta D, Parmigiani P, Salmaso L, Bernardelle R, Cesari U, Andrighetto G, Baschirotto G, Nyhan W, 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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      18. Nguyen KV, Nyhan W. Identification of novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids. 2013; 32(3):155-60. PMID: 23473102.
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      19. Nyhan W. 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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      20. Nguyen KV, Naviaux RK, Paik KK, Nyhan W. 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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      21. Kim SZ, Song WJ, Nyhan W, 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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      22. Nguyen KV, Naviaux RK, Paik KK, Nakayama T, Nyhan W. 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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      23. 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. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet. 2011 Sep; 43(9):883-6. PMID: 21841779.
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      24. Nguyen KV, Naviaux RK, Paik KK, Nyhan W. Novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids. 2011 Jun; 30(6):440-5. PMID: 21780909.
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      25. Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan W. 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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      26. de Gemmis P, Anesi L, Lorenzetto E, Gioachini I, Fortunati E, Zandonà G, Fanin E, Fairbanks L, Andrighetto G, Parmigiani P, Dolcetta D, Nyhan W, 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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      27. Sarafoglou K, Grosse-Redlinger K, Boys CJ, Charnas L, Otten N, Broock R, Nyhan W. 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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      28. 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.
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      29. Nyhan W, 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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      30. Klein J, Nyhan W, 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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      31. Crutchfield SR, Haas RH, Nyhan W, 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.
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      32. Hladnik U, Nyhan W, 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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      33. Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan W, 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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      34. Nyhan W. Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids. 2008 Jun; 27(6):559-63. PMID: 18600504.
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      35. Lien J, Nyhan W, 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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      36. 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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      37. Khanna A, Hart M, Nyhan W, 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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      38. Hartmann S, Okun JG, Schmidt C, Langhans CD, Garbade SF, Burgard P, Haas D, Sass JO, Nyhan W, 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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      39. 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.
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      40. Schretlen DJ, Ward J, Meyer SM, Yun J, Puig JG, Nyhan W, 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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      41. Nyhan W. Disorders of purine and pyrimidine metabolism. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):25-33. PMID: 16176880.
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      42. Pinto CS, Jinnah HA, Shirley TL, Nyhan W, 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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      43. Nyhan W. Lesch-Nyhan Disease. J Hist Neurosci. 2005 Mar; 14(1):1-10. PMID: 15804753.
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      44. De Gregorio L, Jinnah HA, Harris JC, Nyhan W, 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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      45. Nyhan W. Inherited hyperuricemic disorders. Contrib Nephrol. 2005; 147:22-34. PMID: 15604603.
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      46. Jinnah HA, Harris JC, Nyhan W, 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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      47. Barshop BA, Naviaux RK, McGowan KA, Levine F, Nyhan W, 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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      48. McGowan KA, Nyhan W, 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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      49. Nyhan W, Vuong LU, Broock R. Prenatal diagnosis of Lesch-Nyhan disease. Prenat Diagn. 2003 Oct; 23(10):807-9. PMID: 14558024.
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      50. Ohdoi C, Nyhan W, 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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      51. Capistrano-Estrada SB, Nyhan W. 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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      52. Prietsch V, Lindner M, Zschocke J, Nyhan W, Hoffmann GF. Emergency management of inherited metabolic diseases. J Inherit Metab Dis. 2002 Nov; 25(7):531-46. PMID: 12638937.
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      53. Nyhan W, 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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      54. 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 W, 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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      55. Nyhan W, 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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      56. Marsden D, Nyhan W, 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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      57. Barshop BA, Nyhan W, 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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      58. Spruijt L, Naviaux RK, McGowan KA, Nyhan W, 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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      59. Holzinger A, Röschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, Thuy LP, Nyhan W, 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 1; 10(12):1299-306. PMID: 11406611.
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      60. Bodman M, Smith D, Nyhan W, 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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      61. 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 W, 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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      62. Jinnah HA, De Gregorio L, Harris JC, Nyhan W, 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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      63. Nyhan W. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect. 2000 Jun; 108 Suppl 3:409-11. PMID: 10852837.
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      64. De Gregorio L, Nyhan W, 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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      65. Barshop BA, Nyhan W, 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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      66. Naviaux RK, Markusic D, Barshop BA, Nyhan W, Haas RH. Sensitive assay for mitochondrial DNA polymerase gamma. Clin Chem. 1999 Oct; 45(10):1725-33. PMID: 10508117.
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      67. Nyhan W, 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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      68. Thuy LP, Jurecki E, Nemzer L, Nyhan W. 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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      69. Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan W, Gibson KM. 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. J Inherit Metab Dis. 1999 Jun; 22(4):414-27. PMID: 10407778.
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      70. Nyhan W, 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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      71. Thuy LP, Belmont J, Nyhan W. Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. Prenat Diagn. 1999 Feb; 19(2):108-12. PMID: 10215065.
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      72. Naviaux RK, Nyhan W, 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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      73. van der Knaap MS, Jakobs C, Hoffmann GF, Nyhan W, 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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      74. Shelton GD, Nyhan W, 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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      75. Anikster Y, Nyhan W, Gahl WA. NTBC and alkaptonuria. Am J Hum Genet. 1998 Sep; 63(3):920-1. PMID: 9718357; PMCID: PMC1377415.
      76. Medina-Kauwe LK, Nyhan W, 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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      77. Nyhan W, 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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      78. 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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      79. Page T, Yu A, Fontanesi J, Nyhan W. 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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      80. Nyhan W. 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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      81. Podell M, Shelton GD, Nyhan W, 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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      82. Nyhan W, 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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      83. Gibson KM, Bennett MJ, Nyhan W, Mize CE. Late-onset holocarboxylase synthetase deficiency. J Inherit Metab Dis. 1996; 19(6):739-42. PMID: 8982946.
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      84. Chen E, Nyhan W, 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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      85. Al-Alaiyan S, Al-Omran H, Kattan H, Sakati N, Nyhan W. 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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      86. Nyhan W, 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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      87. Haas RH, Marsden DL, Capistrano-Estrada S, Hamilton R, Grafe MR, Wong W, Nyhan W. Acute basal ganglia infarction in propionic acidemia. J Child Neurol. 1995 Jan; 10(1):18-22. PMID: 7769171.
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      88. Hamilton RL, Haas RH, Nyhan W, 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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      89. Hoffmann GF, Jakobs C, Holmes B, Mitchell L, Becker G, Hartung HP, Nyhan W. 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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      90. Ozand PT, Nyhan W, al Aqeel A, Christodoulou J. Malonic aciduria. Brain Dev. 1994 Nov; 16 Suppl:7-11. PMID: 7537025.
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      91. Marsden D, Nyhan W, Sakati NO. Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. Am J Med Genet. 1994 Sep 1; 52(3):334-8. PMID: 7810565.
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      92. Marsden D, Barshop BA, Capistrano-Estrada S, Rice M, Prodanos C, Sartoris D, Wolff J, Jones KL, Spector S, Nyhan W. 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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      93. 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.
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      94. Zapata-Sirvent RL, Hansbrough JF, Ohara MM, Rice-Asaro M, Nyhan W. 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.
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      95. Capistrano-Estrada S, Marsden DL, Nyhan W, 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
      96. Page T, Barshop B, Yu AL, Nyhan W. Treatment of Lesch-Nyhan syndrome with AICAR. Adv Exp Med Biol. 1994; 370:353-6. PMID: 7660927.
        View in: PubMed
      97. Hoffmann GF, Gibson KM, Trefz FK, Nyhan W, 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
      98. Thuy LP, Nyhan W. High voltage electrophoresis of amino acids in urine containing ampicillin. Clin Biochem. 1993 Oct; 26(5):389-90. PMID: 8299209.
        View in: PubMed
      99. Buchta R, Nyhan W, Broock R, Schragg P. Carnitine in adolescents. J Adolesc Health. 1993 Sep; 14(6):440-1. PMID: 8241199.
        View in: PubMed
      100. Hoffmann GF, Seppel CK, Holmes B, Mitchell L, Christen HJ, Hanefeld F, Rating D, Nyhan W. 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
      101. Meier-Augenstein W, Hoffmann GF, Holmes B, Jones JL, Nyhan W, 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
      102. Tuchman M, Berry SA, Thuy LP, Nyhan W. 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
      103. Lott IT, Lottenberg S, Nyhan W, Buchsbaum MJ. Cerebral metabolic change after treatment in biotinidase deficiency. J Inherit Metab Dis. 1993; 16(2):399-407. PMID: 8412000.
        View in: PubMed
      104. Gibson KM, Lee CF, Bennett MJ, Holmes B, Nyhan W. 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
      105. Hoffmann GF, Meier-Augenstein W, Stöckler S, Surtees R, Rating D, Nyhan W. Physiology and pathophysiology of organic acids in cerebrospinal fluid. J Inherit Metab Dis. 1993; 16(4):648-69. PMID: 8412012.
        View in: PubMed
      106. Marsden D, Sege-Petersen K, Nyhan W, 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
      107. Thuy LP, Nyhan W. A new quantitative assay for glycosaminoglycans. Clin Chim Acta. 1992 Nov 16; 212(1-2):17-26. PMID: 1486678.
        View in: PubMed
      108. Nyhan W, Hilton S. Histidinuria: defective transport of histidine. Am J Med Genet. 1992 Nov 15; 44(5):558-61. PMID: 1481808.
        View in: PubMed
      109. Thuy LP, Nyhan W. A screening method for cystine and homocystine in urine. Clin Chim Acta. 1992 Oct 30; 211(3):175-9. PMID: 1458612.
        View in: PubMed
      110. Borden M, Holm J, Leslie J, Sweetman L, Nyhan W, Fleisher L, Nadler H, Lewis D, Scott CR. Hawkinsinuria in two families. Am J Med Genet. 1992 Sep 1; 44(1):52-6. PMID: 1519651.
        View in: PubMed
      111. Sege-Peterson K, Chambers J, Page T, Jones OW, Nyhan W. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. Hum Mol Genet. 1992 Sep; 1(6):427-32. PMID: 1301916.
        View in: PubMed
      112. Marsden DL, Nyhan W. Neurological diseases in disorders of organic acids. Curr Opin Neurol Neurosurg. 1992 Jun; 5(3):349-54. PMID: 1623263.
        View in: PubMed
      113. Thuy LP, Sweetman L, Nyhan W. A new immunochemical assay for biotin. Clin Chim Acta. 1991 Oct 31; 202(3):191-7. PMID: 1814646.
        View in: PubMed
      114. Ko FJ, Nyhan W, 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
      115. Shebib S, Hugosson C, Sakati N, Nyhan W. Osteodysplastic variant of primordial dwarfism. Am J Med Genet. 1991 Aug 1; 40(2):146-50. PMID: 1897566.
        View in: PubMed
      116. Barshop BA, Yoshida I, Ajami A, Sweetman L, Wolff JA, Sweetman FR, Prodanos C, Smith M, Nyhan W. 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
      117. Hoffmann GF, Sweetman L, Bremer HJ, Hunneman DH, Hyánek J, Kozich V, Lehnert W, Nyhan W, 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
      118. Page T, Nyhan W, 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
      119. Aramaki S, Lehotay D, Sweetman L, Nyhan W, 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
      120. Nazer H, Gunasekaran TS, Sakati NA, Nyhan W. 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
      121. Pintos-Morell G, Haas R, Prodanos C, DiMauro S, Nyhan W. 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
      122. Gibson KM, Hoffmann G, Schwall A, Broock RL, Aramaki S, Sweetman L, Nyhan W, 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
      123. Gibson KM, Aramaki S, Sweetman L, Nyhan W, 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
      124. Barshop BA, Wolff J, Nyhan W, 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
      125. Nyhan W. Structural abnormalities. A systematic approach to diagnosis. Clin Symp. 1990; 42(2):1-32. PMID: 2192827.
        View in: PubMed
      126. Yoshida I, Sweetman L, Kulovich S, Nyhan W, 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
      127. Nyhan W, 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
      128. Narisawa K, Gibson KM, Sweetman L, Nyhan W. 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
      129. Wolff JA, Barshop B, Nyhan W, 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
      130. Bonnefont JP, Haas R, Wolff J, Thuy LP, Buchta R, Carroll JE, Saudubray JM, Demaugre F, Nyhan W. Deficiency of carnitine palmitoyltransferase I. J Child Neurol. 1989 Jul; 4(3):198-203. PMID: 2768784.
        View in: PubMed
      131. Hoffmann G, Aramaki S, Blum-Hoffmann E, Nyhan W, 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
      132. Press GA, Barshop BA, Haas RH, Nyhan W, 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
      133. Barshop BA, Breuer J, Holm J, Leslie J, Nyhan W. 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
      134. Aramaki S, Lehotay D, Nyhan W, 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
      135. Gibson KM, Lohr JL, Broock RL, Hoffmann G, Nyhan W, 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
      136. Nyhan W, 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
      137. Page T, Nyhan W. The spectrum of HPRT deficiency: an update. Adv Exp Med Biol. 1989; 253A:129-33. PMID: 2624181.
        View in: PubMed
      138. Gibson KM, Nyhan W. 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
      139. Pattarelli PP, Nyhan W, 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
      140. Najjar H, Mardini M, Tabbaa R, Nyhan W. Variability of the Holt-Oram syndrome in Saudi individuals. Am J Med Genet. 1988 Apr; 29(4):851-5. PMID: 3400729.
        View in: PubMed
      141. Harwood I, Rosas F, Edwards DK, Kelso J, Nyhan W. Cystic fibrosis. West J Med. 1988 Jan; 148(1):62-9. PMID: 3277338.
        View in: PubMed
      142. Hoffmann G, Gibson KM, Nyhan W, 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
      143. Gibson KM, Breuer J, Kaiser K, Nyhan W, 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
      144. Nyhan W. Multiple carboxylase deficiency. Int J Biochem. 1988; 20(4):363-70. PMID: 3284772.
        View in: PubMed
      145. Nyhan W. Inborn errors of biotin metabolism. Arch Dermatol. 1987 Dec; 123(12):1696-1698a. PMID: 3318710.
        View in: PubMed
      146. Hoyme HE, Jones KL, Nyhan W, 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
      147. Hayasaka K, Tada K, Fueki N, Nakamura Y, Nyhan W, 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
      148. Page T, Nyhan W, 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
      149. Petrowski S, Nyhan W, 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
      150. Jacobsen SJ, Page T, Diala ES, Nyhan W, 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
      151. Jordá A, Portolés M, Bonilla-Musoles F, Sweetman L, Nyhan W. 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
      152. Page T, Nyhan W. 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
      153. Thuy LP, Zielinska B, Zammarchi E, Pavari E, Vierucci A, Sweetman F, Sweetman L, Nyhan W. Multiple carboxylase deficiency due to deficiency of biotinidase. J Neurogenet. 1986 Nov; 3(6):357-63. PMID: 3783319.
        View in: PubMed
      154. Hersh JH, Page T, Hand ME, Seegmiller JE, Nyhan W, Weisskopf B. Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency. Pediatr Neurol. 1986 Sep-Oct; 2(5):302-4. PMID: 3508703.
        View in: PubMed
      155. Nyhan W, 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
      156. Wolff JA, Kulovich S, Yu AL, Qiao CN, Nyhan W. 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
      157. Sweetman FR, Gibson KM, Sweetman L, Nyhan W, 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
      158. Wolff J, Nyhan W, 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
      159. Narisawa K, Gibson KM, Sweetman L, Nyhan W, 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
      160. Page TM, Broock RL, Nyhan W, 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
      161. Wolff JA, Carroll JE. Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism. Lancet. 1986 Feb 8; 1(8476):289-91. PMID: 2868163.
        View in: PubMed
      162. Yoshida I, Sweetman L, Nyhan W. 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
      163. Nyhan W, 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
      164. Page TM, Jacobsen SJ, Nyhan W, 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
      165. Nyhan W, 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
      166. Manzke H, Gustmann H, Koke HG, Nyhan W. 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
      167. Sweetman L, Nyhan W. Inheritable biotin-treatable disorders and associated phenomena. Annu Rev Nutr. 1986; 6:317-43. PMID: 3089241.
        View in: PubMed
      168. Gibson KM, Nyhan W, Jaeken J. Inborn errors of GABA metabolism. Bioessays. 1986 Jan; 4(1):24-7. PMID: 3790108.
        View in: PubMed
      169. Yoshida I, Søvik O, Sweetman L, Nyhan W. 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.
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      170. Page T, Nyhan W. 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
      171. 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
      172. 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
      173. Nyhan W, 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
      174. Gibson KM, Sweetman L, Jansen I, Brown GK, Haan EA, Danks DM, Nyhan W. Properties of succinic semialdehyde dehydrogenase in cultured human lymphoblasts. J Neurogenet. 1985 Apr; 2(2):111-22. PMID: 4020531.
        View in: PubMed
      175. Burri BJ, Sweetman L, Nyhan W. 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
      176. Wolff JA, Strom C, Griswold W, Sweetman F, Kulovich S, Prodanos C, Nyhan W. Proximal renal tubular acidosis in methylmalonic acidemia. J Neurogenet. 1985 Feb; 2(1):31-9. PMID: 4020528.
        View in: PubMed
      177. Wolff JA, Kelts DG, Algert S, Prodanos C, Nyhan W. 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
      178. Hernández Nieto L, Nyhan W, 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
      179. Wolff JA, Sweetman L, Nyhan W. 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
      180. Nyhan W. Clinical problems relating to biotin. Ann N Y Acad Sci. 1985; 447:222-4. PMID: 3860174.
        View in: PubMed
      181. Page T, Jacobsen SJ, Smejkal RM, Scheele J, Nyhan W, 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.
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      182. Gibson KM, Sweetman L, Nyhan W, 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
      183. Gibson KM, Sweetman L, Nyhan W, Bowen P. Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria. J Inherit Metab Dis. 1985; 8(2):58. PMID: 3939531.
        View in: PubMed
      184. Ney D, Bay C, Saudubray JM, Kelts DG, Kulovich S, Sweetman L, Nyhan W. An evaluation of protein requirements in methylmalonic acidaemia. J Inherit Metab Dis. 1985; 8(3):132-42. PMID: 3939589.
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      185. Kelts DG, Ney D, Bay C, Saudubray JM, Nyhan W. 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.
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      186. Sweetman L, Burri BJ, Nyhan W. Biotin holocarboxylase synthetase deficiency. Ann N Y Acad Sci. 1985; 447:288-96. PMID: 3860175.
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      187. Jakobs C, Sweetman L, Nyhan W, 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
      188. Jakobs C, Dorland L, Sweetman L, Duran M, Nyhan W, 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.
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      189. Gibson KM, Sweetman L, Nyhan W, Rating D. Succinic semialdehyde dehydrogenase deficiency. J Neurogenet. 1984 Sep; 1(3):213-8. PMID: 6536727.
        View in: PubMed
      190. Jakobs C, Warner TG, Sweetman L, Nyhan W. 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.
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      191. Jakobs C, Sweetman L, Nyhan W. Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid. Clin Chim Acta. 1984 Jul 16; 140(2):157-66. PMID: 6467607.
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      192. Sovik O, Sweetman L, Gibson KM, Nyhan W. 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.
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      193. Jakobs C, Sweetman L, Nyhan W. 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.
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      194. Greene CL, Cann HM, Robinson BH, Gibson KM, Sweetman L, Holm J, Nyhan W. 3-Hydroxy-3-methylglutaric aciduria. J Neurogenet. 1984 Apr; 1(2):165-73. PMID: 6085636.
        View in: PubMed
      195. Smejkal RM, Page TT, Boyd VL, Nyhan W, Jacobsen SJ, Mangum JH, Robins RK. Novel nucleoside inhibitors of guanosine metabolism as antitumor agents. Adv Enzyme Regul. 1984; 22:59-68. PMID: 6475642.
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      196. Gibson KM, Jansen I, Sweetman L, Nyhan W, 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
      197. Hernández Nieto L, Brito Barroso ML, Nyhan W. [Megaloblastic anemia in Lesch-Nyhan disease]. Sangre (Barc). 1984; 29(4-A):476-8. PMID: 6505934.
        View in: PubMed
      198. Yu AL, Matsumoto S, Bleeker L, Alvarez A, Bakay B, Nyhan W, 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
      199. 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
      200. Page T, Bakay B, Nyhan W. Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase in intact cells. Adv Exp Med Biol. 1984; 165 Pt B:27-31. PMID: 6720430.
        View in: PubMed
      201. Jakobs C, Sweetman L, Nyhan W, 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
      202. Page T, Bakay B, Nyhan W. Human GMP synthetase. Int J Biochem. 1984; 16(1):117-20. PMID: 6698284.
        View in: PubMed
      203. 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
      204. Hayasaka K, Tada K, Kikuchi G, Winter S, Nyhan W. 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
      205. Ney D, Bay C, Schneider JA, Kelts D, Nyhan W. 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
      206. Gibson KM, Sweetman L, Nyhan W, 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
      207. Nussbaum RL, Crowder WE, Nyhan W, 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
      208. Robinson LK, Jones KL, Culler F, Nyhan W, Sakati N, Jones KL. The Börjeson-Forssman-Lehmann syndrome. Am J Med Genet. 1983 Jul; 15(3):457-68. PMID: 6683929.
        View in: PubMed
      209. Sakati NO, Nyhan W. Congenital cutis laxa and osteoporosis. Am J Dis Child. 1983 May; 137(5):452-4. PMID: 6846273.
        View in: PubMed
      210. Lartigau MT, Martínez A, Bakay B, Page T, Nyhan W. [Lesch-Nyhan disease studied in intact fibroblasts]. An Esp Pediatr. 1983 May; 18(5):394-8. PMID: 6614674.
        View in: PubMed
      211. Nyhan W. Cytogenetic diseases. Clin Symp. 1983; 35(1):1-32. PMID: 6242703.
        View in: PubMed
      212. Gibson KM, Sweetman L, Nyhan W, 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 9; 126(2):171-81. PMID: 6185253.
        View in: PubMed
      213. Matsumoto SS, Yu AL, Bleeker LC, Bakay B, Kung FH, Nyhan W. 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
      214. Saudubray JM, Coudé FX, Demaugre F, Johnson C, Gibson KM, Nyhan W. 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
      215. Ferrández A, Mayayo E, Nyhan W, 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
      216. Packman S, Cowan MJ, Golbus MS, Caswell NM, Sweetman L, Burri BJ, Nyhan W, Baker H. Prenatal treatment of biotin responsive multiple carboxylase deficiency. Lancet. 1982 Jun 26; 1(8287):1435-8. PMID: 6123722.
        View in: PubMed
      217. Mardini MK, Sakati NA, Lewall DB, Christie R, Nyhan W. Scimitar syndrome. Clin Pediatr (Phila). 1982 Jun; 21(6):350-4. PMID: 7075097.
        View in: PubMed
      218. Christie R, Bay C, Kaufman IA, Bakay B, Borden M, Nyhan W. Lesch-Nyhan disease: clinical experience with nineteen patients. Dev Med Child Neurol. 1982 Jun; 24(3):293-306. PMID: 7095300.
        View in: PubMed
      219. Page T, Bakay B, Nyhan W. An improved procedure for detection of hypoxanthine--guanine phosphoribosyl transferase heterozygotes. Clin Chem. 1982 May; 28(5):1181-4. PMID: 7074901.
        View in: PubMed
      220. Page T, Bakay B, Nyhan W. Kinetic studies of normal and variant hypoxanthine phosphoribosyltransferases in intact fibroblasts. Anal Biochem. 1982 May 1; 122(1):144-7. PMID: 7103079.
        View in: PubMed
      221. Carmena R, Nyhan W, 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
      222. Koenig HM, Stein MT, Waecker N, Nyhan W. Neutropenia of childhood. West J Med. 1982 Jan; 136(1):29-34. PMID: 7072238.
        View in: PubMed
      223. Sweetman L, Nyhan W, 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
      224. Nyhan W, 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
      225. Gottlieb RP, Koppel MM, Nyhan W, 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
      226. Burri BJ, Sweetman L, Nyhan W. 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
      227. Wolf B, Hsia YE, Sweetman L, Gravel R, Harris DJ, Nyhan W. Propionic acidemia: a clinical update. J Pediatr. 1981 Dec; 99(6):835-46. PMID: 7031206.
        View in: PubMed
      228. Sweetman L, Surh L, Baker H, Peterson RM, Nyhan W. Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin. Pediatrics. 1981 Oct; 68(4):553-8. PMID: 7322688.
        View in: PubMed
      229. Hiraga K, Kochi H, Hayasaka K, Kikuchi G, Nyhan W. 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
      230. Rosenberg RN, Ivy N, Kirkpatrick J, Bay C, Nyhan W, 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
      231. Yu AL, Bakay B, Kung FH, Nyhan W. 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
      232. Wolf B, Hsia YE, Sweetman L, Feldman G, Boychuk RB, Bart RD, Crowell DH, Di Mauro RM, Nyhan W. Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. Pediatrics. 1981 Jul; 68(1):113-8. PMID: 6787561.
        View in: PubMed
      233. Mardini MK, Sakati NA, Nyhan W. 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
      234. Truscott RJ, Malegan D, McCairns E, Burke D, Hick L, Sims P, Halpern B, Tanaka K, Sweetman L, Nyhan W, Hammond J, Bumack C, Haan EA, Danks DM. New metabolites in isovaleric acidemia. Clin Chim Acta. 1981 Mar 5; 110(2-3):187-203. PMID: 6452974.
        View in: PubMed
      235. Trauner DA, Page T, Greco C, Sweetman L, Kulovich S, Nyhan W. Progressive neurodegenerative disorder in a patient with nonketotic hyperglycinemia. J Pediatr. 1981 Feb; 98(2):272-5. PMID: 6780675.
        View in: PubMed
      236. Page T, Bakay B, Nissinen E, Nyhan W. 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
      237. Naylor G, Sweetman L, Nyhan W, 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 6; 107(3):175-83. PMID: 7002368.
        View in: PubMed
      238. Buchanan PD, Kahler SG, Sweetman L, Nyhan W. Pitfalls in the prenatal diagnosis of propionic acidemia. Clin Genet. 1980 Sep; 18(3):177-83. PMID: 6934053.
        View in: PubMed
      239. Sweetman L, Nyhan W, Tauner DA, Merritt TA, Singh M. Glutaric aciduria Type II. J Pediatr. 1980 Jun; 96(6):1020-6. PMID: 7373461.
        View in: PubMed
      240. Bakay B, Nissinen E, Sweetman L, Francke U, Nyhan W. 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
      241. Becker MA, Raivio KO, Bakay B, Adams WB, Nyhan W. Superactive phosphoribosylpyrophosphate synthetase with altered regulatory and catalytic properties. Adv Exp Med Biol. 1980; 122A:387-92. PMID: 6158850.
        View in: PubMed
      242. Nyhan W. Understanding inherited metabolic disease. Clin Symp. 1980; 32(5):1-36. PMID: 6113913.
        View in: PubMed
      243. Nyhan W, 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
      244. Becker MA, Raivio KO, Bakay B, Adams WB, Nyhan W. Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. J Clin Invest. 1980 Jan; 65(1):109-20. PMID: 6243137.
        View in: PubMed
      245. Sweetman L, Nyhan W, 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
      246. Bakay B, Nissinen E, Sweetman L, Francke U, Nyhan W. 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
      247. Coude FX, Sweetman L, Nyhan W. 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
      248. Sweetman L, Weyler W, Shafai T, Young PE, Nyhan W. Prenatal diagnosis of propionic acidemia. JAMA. 1979 Sep 7; 242(10):1048-52. PMID: 7301465.
        View in: PubMed
      249. Sweetman L, Weyler W, Shafai T, Young PE, Nyhan W. Prenatal diagnosis of propionic acidemia. JAMA. 1979 Sep 7; 242(10):1048-52. PMID: 470045.
        View in: PubMed
      250. Stein M, Stapleton FB, Rufner D, Edwards DK, Nyhan W. Factitious disease in pediatrics. West J Med. 1979 Sep; 131(3):219-24. PMID: 18748471.
        View in: PubMed
      251. Kuroda Y, Kline JJ, Sweetman L, Nyhan W, 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
      252. 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
      253. Rosenberg RN, Thomas L, Baskin F, Kirkpatrick J, Bay C, Nyhan W. Joseph disease: protein patterns in fibroblasts and brain. Neurology. 1979 Jul; 29(7):917-26. PMID: 572941.
        View in: PubMed
      254. Castells S, Chakrabarti C, Winsberg BG, Hurwic M, Perel JM, Nyhan W. 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
      255. Yu AL, Kung FH, Bakay B, Nyhan W. 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
      256. Stein M, Buchta R, Raszynski A, Nyhan W. Intussusception. West J Med. 1979 Jan; 130(1):35-42. PMID: 419748.
        View in: PubMed
      257. Agha A, Sakati NO, Higginbottom MC, Jones KL, Bay C, Nyhan W. Two forms of cutis laxa presenting in the newborn period. Acta Paediatr Scand. 1978 Nov; 67(6):775-80. PMID: 102106.
        View in: PubMed
      258. Mardini MK, Ghandour M, Sakati NA, Nyhan W. 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
      259. Ballard RA, Vinocur B, Reynolds JW, Wennberg RP, Merritt A, Sweetman L, Nyhan W. Transient hyperammonemia of the preterm infant. N Engl J Med. 1978 Oct 26; 299(17):920-5. PMID: 692597.
        View in: PubMed
      260. Canty TG, Goscienski P, Edwards D, Daley S, Nyhan W. Specialty conference. Staphylococcal pneumonia. West J Med. 1978 Sep; 129(3):201-9. PMID: 706357.
        View in: PubMed
      261. Higginbottom MC, Sweetman L, Nyhan W. 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
      262. Nyhan W. The Lesch-Nyhan syndrome. Dev Med Child Neurol. 1978 Jun; 20(3):376-80. PMID: 307504.
        View in: PubMed
      263. Bakay B, Graf M, Carey S, Nissinen E, Nyhan W. Reexpression of HPRT activity following cell fusion with polyethylene glycol. Biochem Genet. 1978 Apr; 16(3-4):227-37. PMID: 209782.
        View in: PubMed
      264. Sweetman L, Hoch MA, Bakay B, Borden M, Lesh P, Nyhan W. A distinct human variant of hypoxanthine-guanine phosphoribosyl transferase. J Pediatr. 1978 Mar; 92(3):385-9. PMID: 632976.
        View in: PubMed
      265. Sweetman L, Weyler W, Nyhan W, 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
      266. 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
      267. Nyhan W. 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
      268. Bakay B, Nissinen EA, Sweetman L, Nyhan W. 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
      269. de Cespedes C, Loria AR, Estrada Y, Sweetman L, Nyhan W. The diagnosis and management of propionic acidemia. Monogr Hum Genet. 1978; 9:80-3. PMID: 732855.
        View in: PubMed
      270. Shafai T, Sweetman L, Weyler W, Goodman SI, Fennessey PV, Nyhan W. Propionic acidemia with severe hyperammonemia and defective glycine metabolism. J Pediatr. 1978 Jan; 92(1):84-6. PMID: 619088.
        View in: PubMed
      271. Senter TP, Jones KL, Sakati N, Nyhan W. Atypical ichthyosiform erythroderma and congenital neurosensory deafness--a distinct syndrome. J Pediatr. 1978 Jan; 92(1):68-72. PMID: 338874.
        View in: PubMed
      272. Rosenberg RN, Nyhan W, 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
      273. Ando T, Nyhan W, 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
      274. Collins DL, Marks L, Edwards D, Kirkpatrick SE, Nyhan W. Specialty conference: management of infants with diaphragmatic hernia. West J Med. 1977 Dec; 127(6):479-86. PMID: 595586.
        View in: PubMed
      275. Sweetman L, Bates SP, Hull D, Nyhan W. 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
      276. Trauner D, Sweetman L, Holm J, Kulovich S, Nyhan W. Biochemical correlates of illness and recovery in Reye's syndrome. Ann Neurol. 1977 Sep; 2(3):238-41. PMID: 617569.
        View in: PubMed
      277. Weyler W, Sweetman L, Maggio DC, Nyhan W. Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria. Clin Chim Acta. 1977 May 2; 76(3):321-8. PMID: 858206.
        View in: PubMed
      278. Francke U, Felsenstein J, Gartler SM, Nyhan W, Seegmiller JE. Answer to criticism of Morton and Lalouel. Am J Hum Genet. 1977 May; 29(3):307-11. PMID: 17948539.
        View in: PubMed
      279. Nyhan W. An approach to the diagnosis of overwhelming metabolic disease in early infancy. Curr Probl Pediatr. 1977 Apr; 1-20. PMID: 856539.
        View in: PubMed
      280. Sweetman L, Borden M, Kulovich S, Kaufman I, Nyhan W. 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
      281. Nyhan W. Genetic heterogeneity at the locus for hypoxanthine-guanine phosphoribosyltransferase. Ciba Found Symp. 1977; (48):65-81. PMID: 305334.
        View in: PubMed
      282. Bakay B, Graf M, Carey S, Nyhan W. Study of immunoreactive material in patients with deficient HPRT activity. Adv Exp Med Biol. 1977; 76A:361-9. PMID: 855716.
        View in: PubMed
      283. Bakay B, Francke U, Nyhan W, 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
      284. Trauner DA, Nyhan W, 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
      285. Bakay B, Becker MA, Nyhan W. 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
      286. Stein M, Blayney D, Feit T, Goergen TG, Micik S, Nyhan W. Acute iron poisoning in children. West J Med. 1976 Oct; 125(4):289-97. PMID: 1032228.
        View in: PubMed
      287. Nyhan W. Behavior in the Lesch--Nyhan syndrome. J Autism Child Schizophr. 1976 Sep; 6(3):235-52. PMID: 1086851.
        View in: PubMed
      288. Rosenberg RN, Nyhan W, 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
      289. Keller MA, Jones KL, Nyhan W, 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
      290. Francke U, Felsenstein J, Gartler SM, Migeon BR, Dancis J, Seegmiller JE, Bakay F, Nyhan W. 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
      291. Rosenberg RN, Nyhan W, 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
      292. Nyhan W. Editorial: Prenatal treatment of methylmalonic acidemia. N Engl J Med. 1975 Aug 14; 293(7):353-4. PMID: 1152927.
        View in: PubMed
      293. Wadlington WB, Kilroy A, Ando T, Sweetman L, Nyhan W. 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
      294. Bakay B, Nyhan W, 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
      295. Bakay B, Nyhan W. Heterogeneity of hypoxanthine guanine phosphoribosyl transferase from human erythrocytes. Arch Biochem Biophys. 1975 May; 168(1):26-34. PMID: 1169910.
        View in: PubMed
      296. Trauner DA, Nyhan W, Sweetman L. Short-chain organic acidemia and Reye's syndrome. Neurology. 1975 Mar; 25(3):296-8. PMID: 1167641.
        View in: PubMed
      297. Landis DM, Rosenberg RN, Landis SC, Schut L, Nyhan W. Olivopontocerebellar degeneration. Clinical and ultrastructural abnormalities. Arch Neurol. 1974 Nov; 31(5):295-307. PMID: 4370236.
        View in: PubMed
      298. Francke U, Bakay B, Connor JD, Coldwell JG, Nyhan W. 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
      299. Borden M, Nyhan W, 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
      300. Nyhan W. The Lesch-Nyhan syndrome. Adv Nephrol Necker Hosp. 1974; 3:59-70. PMID: 4219709.
        View in: PubMed
      301. Yujnovsky O, Ayala D, Vincitorio A, Viale H, Sakati N, Nyhan W. A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations. Clin Genet. 1974; 6(1):51-9. PMID: 4372010.
        View in: PubMed
      302. Croce CM, Bakay B, Nyhan W, 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
      303. Nyhan W. Malformation syndromes in human genetic disease. Plast Reconstr Surg. 1973 Sep; 52(3):237-45. PMID: 4269199.
        View in: PubMed
      304. Bakay B, Croce CM, Koprowski H, Nyhan W. 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
      305. Francke U, Bakay B, Nyhan W. 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
      306. Nyhan W. The Lesch-Nyhan syndrome. Birth Defects Orig Artic Ser. 1973 Mar; 9(2):41-2. PMID: 4803707.
        View in: PubMed
      307. Nyhan W, 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
      308. Nyhan W. The Lesch-Nyhan syndrome. Annu Rev Med. 1973; 24:41-60. PMID: 4575865.
        View in: PubMed
      309. Rasmussen K, Ando T, Nyhan W, 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
      310. Ando T, Rasmussen K, Nyhan W, 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
      311. Bakay B, Nyhan W. 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
      312. Sweetman L, Nyhan W. 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
      313. Bakay B, Nyhan W, 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
      314. Nyhan W. Clinical features of the Lesch-Nyhan syndrome. Arch Intern Med. 1972 Aug; 130(2):186-92. PMID: 5050553.
        View in: PubMed
      315. Rasmussen K, Ando T, Nyhan W, 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.
        View in: PubMed
      316. Ando T, Nyhan W, 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.
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      317. Ando T, Rasmussen K, Wright JM, Nyhan W. 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
      318. Bakay B, Nyhan W. 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
      319. Nyhan W. 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.
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      320. Bryson Y, Sakati N, Nyhan W, 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
      321. Sweetman L, Nyhan W. Detailed comparison of the urinary excretion of purines in a patient with the Lesch-Nyhan syndrome and a control subject. Biochem Med. 1971 Sep; 4(2):121-34. PMID: 5134918.
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      322. Sweetman L, Nyhan W. Studies on the mechanism of adsorption of purines in sephadex G-10 chromatography. J Chromatogr. 1971 Jul 22; 59(2):349-66. PMID: 5110718.
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      323. Sakati N, Nyhan W, 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
      324. Shear CS, Nyhan W, 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.
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      325. Ando T, Rasmussen K, Nyhan W, Donnell GN, Barnes ND. Propionic acidemia in patients with ketotic hyperglycinemia. J Pediatr. 1971 May; 78(5):827-32. PMID: 5581587.
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      326. Bakay B, Nyhan W. The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis. Biochem Genet. 1971 Feb; 5(1):81-90. PMID: 5582066.
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      327. Ando T, Nyhan W. A simple screening method for detecting isovalerylglycine in urine patients with isovaleric acidemia. Clin Chem. 1970 May; 16(5):420-2. PMID: 5443766.
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      328. Frost P, Weinstein GD, Nyhan W. Diagnosis of Lesch-Nyhan syndrome by direct study of skin specimens. JAMA. 1970 Apr 13; 212(2):316-8. PMID: 5467237.
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      329. Kogut MD, Donnell GN, Nyhan W, 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.
        View in: PubMed
      330. Bejar RL, Smith GF, Park S, Spellacy WN, Wolfson SL, Nyhan W. Cerebral gigantism: concentrations of amino acids in plasma and muscle. J Pediatr. 1970 Jan; 76(1):105-11. PMID: 4312004.
        View in: PubMed
      331. Nyhan W, 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
      332. Greene ML, Nyhan W, Seegmiller JE. Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group. Am J Hum Genet. 1970 Jan; 22(1):50-4. PMID: 5411648.
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      333. Baumgartner R, Ando T, Nyhan W. Nonketotic hyperglycinemia. J Pediatr. 1969 Dec; 75(6):1022-30. PMID: 5352828.
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      334. Sweetman L, Nyhan W. Quantitation of oxypurines and allopurinol metabolites in biological fluids by cation-exchange chromatography. Anal Biochem. 1969 Oct 1; 31(1):358-65. PMID: 5380707.
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      335. Gerritsen T, Nyhan W, Rehberg ML, Ando T. Metabolism of glyoxylate in nonketotic hyperglycinemia. Pediatr Res. 1969 Jul; 3(4):269-74. PMID: 5807055.
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      336. Morrow G, Barness LA, Auerbach VH, DiGeorge AM, Ando T, Nyhan W. Observations on the coexistence of methylmalonic acidemia and glycinemia. J Pediatr. 1969 May; 74(5):680-90. PMID: 5778824.
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      337. Nyhan W, 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.
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      338. Nyhan W, 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.
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      339. Ziter FA, Bray PF, Madsen JA, Nyhan W. The clinical findings in a patient with nonketotic hyperglycinemia. Pediatr Res. 1968 Jul; 2(4):250-3. PMID: 5691357.
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      340. Ando T, Nyhan W, 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
      341. Nyhan W. 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
      342. Nyhan W. Lesch-Nyhan syndrome. Summary of clinical features. Fed Proc. 1968 Jul-Aug; 27(4):1034-41. PMID: 5658469.
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      343. Migeon BR, Der Kaloustian VM, Nyhan W, 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.
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      344. Sweetman L, Nyhan W. Sephadex G-10 adsorption chromatography of purines and related compounds. J Chromatogr. 1968 Feb 20; 32(4):662-75. PMID: 5645559.
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      345. Nyhan W, 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.
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      346. Sweetman L, Nyhan W. Excretion of hypoxanthine and xanthine in a genetic disease of purine metabolism. Nature. 1967 Aug 19; 215(5103):859-60. PMID: 6049739.
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      347. Nyhan W. Treatment of hyperglycinemia. Am J Dis Child. 1967 Jan; 113(1):129-33. PMID: 6015889.
        View in: PubMed
      348. Nyhan W. A disorder of uric acid metabolism and cerebral function in childhood. Arthritis Rheum. 1965 Oct; 8(5):659-64. PMID: 5859539.
        View in: PubMed
      349. 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; PMCID: PMC289669.
      350. NYHAN WL, GREEN M. HYPERTHYROIDISM IN A PATIENT WITH A PITUITARY ADENOMA. J Pediatr. 1964 Oct; 65:583-9. PMID: 14216646.
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      351. CHILDS B, NYHAN WL. FURTHER OBSERVATIONS OF A PATIENT WITH HYPERGLYCINEMIA. Pediatrics. 1964 Mar; 33:403-12. PMID: 14129085.
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      352. 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
      353. 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.
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      354. NYHAN WL, FOUSEK MD. Septicemia of the newborn. Pediatrics. 1958 Aug; 22(2):268-78. PMID: 13578513.
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      355. GREEN M, NYHAN WL, FOUSEK MD. Acute hematogenous osteomyelitis. Pediatrics. 1956 Mar; 17(3):368-82. PMID: 13297518.
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      356. NYHAN WL, RECTANUS DR, FOUSEK MD. Hemophilus influenzae type b pneumonia. Pediatrics. 1955 Jul; 16(1):31-42. PMID: 14394736.
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