William Nyhan

Title(s)Emeritus Professor, Pediatrics
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    Center for the Study of the Neural Bases of Language and Learning
    NIH P50NS022343May 1, 1997 - Jun 30, 2014
    Role: Co-Principal Investigator
    NIH 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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP). Nucleosides Nucleotides Nucleic Acids. 2020; 39(6):905-922. Nguyen KV, Naviaux RK, Nyhan WL. PMID: 32312153.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    2. The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation. JIMD Rep. 2020 Jul; 54(1):3-8. Berry GT, Blume ED, Wessel A, Singh T, Hecht L, Marsden D, Sahai I, Elisofon S, Ferguson M, Kim HB, Harris DJ, Demirbas D, Almuqbil M, Nyhan WL. PMID: 32685343.
      View in: PubMed   Mentions:
    3. Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease. Clin Chim Acta. 2019 Dec; 499:13-15. Nyhan WL, McGowan K, Barshop BA. PMID: 31404531.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids. 2017 Nov 02; 36(11):704-711. Nguyen KV, Naviaux RK, Nyhan WL. PMID: 29185864.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    5. Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene. Nucleosides Nucleotides Nucleic Acids. 2017 Jul 03; 36(7):452-462. Nguyen KV, Silva S, Troncoso M, Naviaux RK, Nyhan WL. PMID: 28524722.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    6. Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease. Neurosci Lett. 2017 03 16; 643:52-58. Nguyen KV, Nyhan WL. PMID: 28192196.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    7. A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene. Nucleosides Nucleotides Nucleic Acids. 2017 May 04; 36(5):317-327. Nguyen KV, Leydiker K, Wang R, Abdenur J, Nyhan WL. PMID: 28102781.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    8. Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. Nucleosides Nucleotides Nucleic Acids. 2017 Feb; 36(2):151-157. Nguyen KV, Naviaux RK, Nyhan WL. PMID: 28045594.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    9. Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature. JIMD Rep. 2017; 35:23-28. Christy A, Nyhan W, Wilson J. PMID: 27858372.
      View in: PubMed   Mentions:
    10. Hereditary Orotic Aciduria and the Excretion of Orotidine. Neuropediatrics. 2016 Dec; 47(6):408-409. Nyhan WL, Gangoiti JA. PMID: 27574833.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    11. Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome. Nucleosides Nucleotides Nucleic Acids. 2016 Aug 02; 35(8):426-33. Nguyen KV, Nyhan WL. PMID: 27379977.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    12. A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease. Mol Genet Metab. 2016 Apr; 117(4):401-6. Khasnavis T, Reiner G, Sommerfeld B, Nyhan WL, Chipkin R, Jinnah HA. PMID: 26922636.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCTClinical Trials
    13. Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper. Curr Protoc Hum Genet. 2015 Jul 01; 86:17.19.1-17.19.10. Auler K, Broock R, Nyhan WL. PMID: 26132002.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    14. Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria. JIMD Rep. 2015; 24:13-20. Gertsman I, Barshop BA, Panyard-Davis J, Gangoiti JA, Nyhan WL. PMID: 25665838.
      View in: PubMed   Mentions:
    15. Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome. Mol Genet Metab. 2015 Mar; 114(3):431-7. Gertsman I, Gangoiti JA, Nyhan WL, Barshop BA. PMID: 25680927.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    16. Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene. Nucleosides Nucleotides Nucleic Acids. 2015; 34(6):442-7. Nguyen KV, Nyhan WL. PMID: 25965333.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    17. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab. 2014 Jan; 111(1):16-25. Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A. PMID: 24268530.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    18. Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease. J Am Soc Nephrol. 2013 Nov; 24(11):1901-12. Sharma K, Karl B, Mathew AV, Gangoiti JA, Wassel CL, Saito R, Pu M, Sharma S, You YH, Wang L, Diamond-Stanic M, Lindenmeyer MT, Forsblom C, Wu W, Ix JH, Ideker T, Kopp JB, Nigam SK, Cohen CD, Groop PH, Barshop BA, Natarajan L, Nyhan WL, Naviaux RK. PMID: 23949796.
      View in: PubMed   Mentions: 173     Fields:    Translation:Humans
    19. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain. 2014 May; 137(Pt 5):1282-303. Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JG, O'Neill PJ, Jinnah HA, Lesch-Nyhan Disease International Study Group . PMID: 23975452.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansAnimals
    20. Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients. Nucleosides Nucleotides Nucleic Acids. 2013; 32(4):174-88. Dolcetta D, Parmigiani P, Salmaso L, Bernardelle R, Cesari U, Andrighetto G, Baschirotto G, Nyhan WL, Hladnik U. PMID: 24001191.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCTClinical Trials
    21. Identification of novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids. 2013; 32(3):155-60. Nguyen KV, Nyhan WL. PMID: 23473102.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    22. Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA. Mol Genet Metab. 2012 Aug; 106(4):498-501. Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. PMID: 22766437.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    23. Long-term follow-up of four patients affected by HHH syndrome. Clin Chim Acta. 2012 Jul 11; 413(13-14):1151-5. Kim SZ, Song WJ, Nyhan WL, Ficicioglu C, Mandell R, Shih VE. PMID: 22465082.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    24. Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members. Nucleosides Nucleotides Nucleic Acids. 2012; 31(8):616-29. Nguyen KV, Naviaux RK, Paik KK, Nakayama T, Nyhan WL. PMID: 22908952.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    25. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet. 2011 Aug 14; 43(9):883-6. Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, NIH Intramural Sequencing Center Group , Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP. PMID: 21841779.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansCells
    26. Novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids. 2011 Jun; 30(6):440-5. Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. PMID: 21780909.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    27. Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Mol Genet Metab. 2011 Feb; 102(2):218-21. Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL. PMID: 21071250.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    28. Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers. Mutat Res. 2010 Oct 13; 692(1-2):1-5. de Gemmis P, Anesi L, Lorenzetto E, Gioachini I, Fortunati E, Zandonà G, Fanin E, Fairbanks L, Andrighetto G, Parmigiani P, Dolcetta D, Nyhan WL, Hladnik U. PMID: 20638392.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    29. Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members. Arch Neurol. 2010 Jun; 67(6):761-4. Sarafoglou K, Grosse-Redlinger K, Boys CJ, Charnas L, Otten N, Broock R, Nyhan WL. PMID: 20558399.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    30. Attenuated variants of Lesch-Nyhan disease. Brain. 2010 Mar; 133(Pt 3):671-89. Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG, Lesch-Nyhan Disease International Study Group . PMID: 20176575.
      View in: PubMed   Mentions: 40     Fields:    Translation:Humans
    31. Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S79-82. Nyhan WL, Willis M, Barshop BA, Gangoiti J. PMID: 19357990.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansPHPublic Health
    32. The effects of alanine ingestion on metabolic responses to exercise in cyclists. Amino Acids. 2009 Oct; 37(4):673-80. Klein J, Nyhan WL, Kern M. PMID: 18850309.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    33. 'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'. Dev Med Child Neurol. 2008 Nov; 50(11):880-1. Crutchfield SR, Haas RH, Nyhan WL, Gibson KM. PMID: 18811705.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    34. Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Arch Neurol. 2008 Sep; 65(9):1240-3. Hladnik U, Nyhan WL, Bertelli M. PMID: 18779430.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    35. CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab. 2008 Aug; 94(4):422-7. Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR, Tein I, Vladutiu GD. PMID: 18550408.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    36. Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids. 2008 Jun; 27(6):559-63. Nyhan WL. PMID: 18600504.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    37. Fatal initial adult-onset presentation of urea cycle defect. Arch Neurol. 2007 Dec; 64(12):1777-9. Lien J, Nyhan WL, Barshop BA. PMID: 18071043.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    38. Domino liver transplantation in maple syrup urine disease. Liver Transpl. 2006 May; 12(5):876-82. Khanna A, Hart M, Nyhan WL, Hassanein T, Panyard-Davis J, Barshop BA. PMID: 16628687.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    39. 3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. Saudi Med J. 2006 May; 27(5):732-3. Al-Odaib A, Rashed M, Page T, Nyhan W, Ozand PT. PMID: 16680273.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    40. Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. Clin Chem. 2006 Jun; 52(6):1127-37. Hartmann S, Okun JG, Schmidt C, Langhans CD, Garbade SF, Burgard P, Haas D, Sass JO, Nyhan WL, Hoffmann GF. PMID: 16613999.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    41. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006 May; 129(Pt 5):1201-17. Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I, Gonzalez-Alegre P, Neychev V, Torres RJ, Dulac O, Desguerre I, Schretlen DJ, Robey KL, Barabas G, Bloem BR, Nyhan W, De Kremer R, Eddey GE, Puig JG, Reich SG, Lesch-Nyhan Disease International Study Group . PMID: 16549399.
      View in: PubMed   Mentions: 70     Fields:    Translation:Humans
    42. Behavioral aspects of Lesch-Nyhan disease and its variants. Dev Med Child Neurol. 2005 Oct; 47(10):673-7. Schretlen DJ, Ward J, Meyer SM, Yun J, Puig JG, Nyhan WL, Jinnah HA, Harris JC. PMID: 16174310.
      View in: PubMed   Mentions: 31     Fields:    Translation:Humans
    43. Disorders of purine and pyrimidine metabolism. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):25-33. Nyhan WL. PMID: 16176880.
      View in: PubMed   Mentions: 54     Fields:    Translation:Humans
    44. Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines. J Neurochem. 2005 Jun; 93(6):1579-86. Pinto CS, Jinnah HA, Shirley TL, Nyhan WL, Seifert R. PMID: 15935074.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    45. Lesch-Nyhan Disease. J Hist Neurosci. 2005 Mar; 14(1):1-10. Nyhan WL. PMID: 15804753.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    46. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. Mol Genet Metab. 2005 May; 85(1):70-7. De Gregorio L, Jinnah HA, Harris JC, Nyhan WL, Schretlen DJ, Trombley LM, O'Neill JP. PMID: 15862283.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    47. Inherited hyperuricemic disorders. Contrib Nephrol. 2005; 147:22-34. Nyhan WL. PMID: 15604603.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    48. Chronic treatment of mitochondrial disease patients with dichloroacetate. Mol Genet Metab. 2004 Sep-Oct; 83(1-2):138-49. Barshop BA, Naviaux RK, McGowan KA, Levine F, Nyhan WL, Loupis-Geller A, Haas RH. PMID: 15464428.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCTClinical Trials
    49. The role of methionine in ethylmalonic encephalopathy with petechiae. Arch Neurol. 2004 Apr; 61(4):570-4. McGowan KA, Nyhan WL, Barshop BA, Naviaux RK, Yu A, Haas RH, Townsend JJ. PMID: 15096407.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    50. Prenatal diagnosis of Lesch-Nyhan disease. Prenat Diagn. 2003 Oct; 23(10):807-9. Nyhan WL, Vuong LU, Broock R. PMID: 14558024.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    51. Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 15; 792(1):123-30. Ohdoi C, Nyhan WL, Kuhara T. PMID: 12829005.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    52. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report. Southeast Asian J Trop Med Public Health. 2003; 34 Suppl 3:186-8. Capistrano-Estrada SB, Nyhan WL. PMID: 15906733.
      View in: PubMed   Mentions:    Fields:    Translation:HumansPHPublic Health
    53. Pyruvate carboxylase deficiency--insights from liver transplantation. Mol Genet Metab. 2002 Sep-Oct; 77(1-2):143-9. Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH. PMID: 12359142.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    54. Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. Hum Genet. 2002 Aug; 111(2):179-89. Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, Saudubray JM, Rostane H, Djouadi F, Wilcox W, Cederbaum S, Haas R, Nyhan WL, Green A, Gray G, Girard J, Thuillier L. PMID: 12189492.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    55. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur J Pediatr. 2002 Jul; 161(7):377-9. Nyhan WL, Gargus JJ, Boyle K, Selby R, Koch R. PMID: 12111189.
      View in: PubMed   Mentions: 31     Fields:    Translation:Humans
    56. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect. 2000 Jun; 108 Suppl 3:409-11. Nyhan WL. PMID: 10852837.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
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