Loading...

William Nyhan

TitleRecall Faculty
InstitutionUniversity of California San Diego
DepartmentPediatrics
Address9500 Gilman Drive #0830
La Jolla CA 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 ORNG Applications 
    Collapse Clinical Trials

    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.
    List All   |   Timeline
    1. Nguyen KV, Naviaux RK, Nyhan WL. Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids. 2017 Nov 02; 36(11):704-711. PMID: 29185864.
      View in: PubMed
    2. Nguyen KV, Silva S, Troncoso M, Naviaux RK, Nyhan WL. Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene. Nucleosides Nucleotides Nucleic Acids. 2017 Jul 03; 36(7):452-462. PMID: 28524722.
      View in: PubMed
    3. Nguyen KV, Nyhan WL. Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease. Neurosci Lett. 2017 Mar 16; 643:52-58. PMID: 28192196.
      View in: PubMed
    4. Nguyen KV, Leydiker K, Wang R, Abdenur J, Nyhan WL. A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene. Nucleosides Nucleotides Nucleic Acids. 2017 May 04; 36(5):317-327. PMID: 28102781.
      View in: PubMed
    5. Nguyen KV, Naviaux RK, Nyhan WL. Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. Nucleosides Nucleotides Nucleic Acids. 2017 Feb; 36(2):151-157. PMID: 28045594.
      View in: PubMed
    6. Christy A, Nyhan W, Wilson J. Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature. JIMD Rep. 2017; 35:23-28. PMID: 27858372.
      View in: PubMed
    7. Nyhan WL, Gangoiti JA. Hereditary Orotic Aciduria and the Excretion of Orotidine. Neuropediatrics. 2016 Dec; 47(6):408-409. PMID: 27574833.
      View in: PubMed
    8. Nguyen KV, Nyhan WL. Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome. Nucleosides Nucleotides Nucleic Acids. 2016 Aug 02; 35(8):426-33. PMID: 27379977.
      View in: PubMed
    9. Khasnavis T, Reiner G, Sommerfeld B, Nyhan WL, Chipkin R, Jinnah HA. A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease. Mol Genet Metab. 2016 Apr; 117(4):401-6. PMID: 26922636.
      View in: PubMed
    10. Auler K, Broock R, Nyhan WL. Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper. Curr Protoc Hum Genet. 2015 Jul 01; 86:17.19.1-10. PMID: 26132002.
      View in: PubMed
    11. Gertsman I, Barshop BA, Panyard-Davis J, Gangoiti JA, Nyhan WL. Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria. JIMD Rep. 2015; 24:13-20. PMID: 25665838; PMCID: PMC4582031.
    12. Gertsman I, Gangoiti JA, Nyhan WL, Barshop BA. Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome. Mol Genet Metab. 2015 Mar; 114(3):431-7. PMID: 25680927.
      View in: PubMed
    13. Nguyen KV, Nyhan WL. Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene. Nucleosides Nucleotides Nucleic Acids. 2015; 34(6):442-7. PMID: 25965333.
      View in: PubMed
    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.
      View in: PubMed
    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 WL, Naviaux RK. Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease. J Am Soc Nephrol. 2013 Nov; 24(11):1901-12. PMID: 23949796; PMCID: PMC3810086.
    16. Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JG, O'Neill PJ, Jinnah HA. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain. 2014 May; 137(Pt 5):1282-303. PMID: 23975452; PMCID: PMC3999711.
    17. Dolcetta D, Parmigiani P, Salmaso L, Bernardelle R, Cesari U, Andrighetto G, Baschirotto G, Nyhan WL, Hladnik U. Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients. Nucleosides Nucleotides Nucleic Acids. 2013; 32(4):174-88. PMID: 24001191.
      View in: PubMed
    18. Nguyen KV, Nyhan WL. Identification of novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids. 2013; 32(3):155-60. PMID: 23473102.
      View in: PubMed
    19. Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA. Mol Genet Metab. 2012 Aug; 106(4):498-501. PMID: 22766437.
      View in: PubMed
    20. Kim SZ, Song WJ, Nyhan WL, Ficicioglu C, Mandell R, Shih VE. Long-term follow-up of four patients affected by HHH syndrome. Clin Chim Acta. 2012 Jul 11; 413(13-14):1151-5. PMID: 22465082.
      View in: PubMed
    21. Nguyen KV, Naviaux RK, Paik KK, Nakayama T, Nyhan WL. Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members. Nucleosides Nucleotides Nucleic Acids. 2012; 31(8):616-29. PMID: 22908952.
      View in: PubMed
    22. 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 Aug 14; 43(9):883-6. PMID: 21841779.
      View in: PubMed
    23. Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. Novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids. 2011 Jun; 30(6):440-5. PMID: 21780909.
      View in: PubMed
    24. Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL. Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Mol Genet Metab. 2011 Feb; 102(2):218-21. PMID: 21071250.
      View in: PubMed
    25. de Gemmis P, Anesi L, Lorenzetto E, Gioachini I, Fortunati E, Zandonà G, Fanin E, Fairbanks L, Andrighetto G, Parmigiani P, Dolcetta D, Nyhan WL, Hladnik U. Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers. Mutat Res. 2010 Oct 13; 692(1-2):1-5. PMID: 20638392.
      View in: PubMed
    26. Sarafoglou K, Grosse-Redlinger K, Boys CJ, Charnas L, Otten N, Broock R, Nyhan WL. Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members. Arch Neurol. 2010 Jun; 67(6):761-4. PMID: 20558399.
      View in: PubMed
    27. Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG. Attenuated variants of Lesch-Nyhan disease. Brain. 2010 Mar; 133(Pt 3):671-89. PMID: 20176575; PMCID: PMC2842514.
    28. Nyhan WL, Willis M, Barshop BA, Gangoiti J. Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S79-82. PMID: 19357990.
      View in: PubMed
    29. Klein J, Nyhan WL, Kern M. The effects of alanine ingestion on metabolic responses to exercise in cyclists. Amino Acids. 2009 Oct; 37(4):673-80. PMID: 18850309.
      View in: PubMed
    30. Crutchfield SR, Haas RH, Nyhan WL, Gibson KM. 'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'. Dev Med Child Neurol. 2008 Nov; 50(11):880-1. PMID: 18811705; PMCID: PMC2668832.
    31. Hladnik U, Nyhan WL, Bertelli M. Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Arch Neurol. 2008 Sep; 65(9):1240-3. PMID: 18779430.
      View in: PubMed
    32. Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR, Tein I, Vladutiu GD. CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab. 2008 Aug; 94(4):422-7. PMID: 18550408.
      View in: PubMed
    33. Nyhan WL. Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids. 2008 Jun; 27(6):559-63. PMID: 18600504.
      View in: PubMed
    34. Lien J, Nyhan WL, Barshop BA. Fatal initial adult-onset presentation of urea cycle defect. Arch Neurol. 2007 Dec; 64(12):1777-9. PMID: 18071043.
      View in: PubMed
    35. Khanna A, Hart M, Nyhan WL, Hassanein T, Panyard-Davis J, Barshop BA. Domino liver transplantation in maple syrup urine disease. Liver Transpl. 2006 May; 12(5):876-82. PMID: 16628687.
      View in: PubMed
    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.
      View in: PubMed
    37. Hartmann S, Okun JG, Schmidt C, Langhans CD, Garbade SF, Burgard P, Haas D, Sass JO, Nyhan WL, Hoffmann GF. Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. Clin Chem. 2006 Jun; 52(6):1127-37. PMID: 16613999.
      View in: PubMed
    38. Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I, Gonzalez-Alegre P, Neychev V, Torres RJ, Dulac O, Desguerre I, Schretlen DJ, Robey KL, Barabas G, Bloem BR, Nyhan W, De Kremer R, Eddey GE, Puig JG, Reich SG. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006 May; 129(Pt 5):1201-17. PMID: 16549399; PMCID: PMC3508431.
    39. Schretlen DJ, Ward J, Meyer SM, Yun J, Puig JG, Nyhan WL, Jinnah HA, Harris JC. Behavioral aspects of Lesch-Nyhan disease and its variants. Dev Med Child Neurol. 2005 Oct; 47(10):673-7. PMID: 16174310.
      View in: PubMed
    40. Nyhan WL. Disorders of purine and pyrimidine metabolism. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):25-33. PMID: 16176880.
      View in: PubMed
    41. Pinto CS, Jinnah HA, Shirley TL, Nyhan WL, Seifert R. Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines. J Neurochem. 2005 Jun; 93(6):1579-86. PMID: 15935074.
      View in: PubMed
    42. Nyhan WL. Lesch-Nyhan Disease. J Hist Neurosci. 2005 Mar; 14(1):1-10. PMID: 15804753.
      View in: PubMed
    43. De Gregorio L, Jinnah HA, Harris JC, Nyhan WL, Schretlen DJ, Trombley LM, O'Neill JP. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. Mol Genet Metab. 2005 May; 85(1):70-7. PMID: 15862283.
      View in: PubMed
    44. Nyhan WL. Inherited hyperuricemic disorders. Contrib Nephrol. 2005; 147:22-34. PMID: 15604603.
      View in: PubMed
    45. Barshop BA, Naviaux RK, McGowan KA, Levine F, Nyhan WL, Loupis-Geller A, Haas RH. Chronic treatment of mitochondrial disease patients with dichloroacetate. Mol Genet Metab. 2004 Sep-Oct; 83(1-2):138-49. PMID: 15464428.
      View in: PubMed
    46. McGowan KA, Nyhan WL, Barshop BA, Naviaux RK, Yu A, Haas RH, Townsend JJ. The role of methionine in ethylmalonic encephalopathy with petechiae. Arch Neurol. 2004 Apr; 61(4):570-4. PMID: 15096407.
      View in: PubMed
    47. Nyhan WL, Vuong LU, Broock R. Prenatal diagnosis of Lesch-Nyhan disease. Prenat Diagn. 2003 Oct; 23(10):807-9. PMID: 14558024.
      View in: PubMed
    48. Ohdoi C, Nyhan WL, Kuhara T. Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 15; 792(1):123-30. PMID: 12829005.
      View in: PubMed
    49. Capistrano-Estrada SB, Nyhan WL. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report. Southeast Asian J Trop Med Public Health. 2003; 34 Suppl 3:186-8. PMID: 15906733.
      View in: PubMed
    50. Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH. Pyruvate carboxylase deficiency--insights from liver transplantation. Mol Genet Metab. 2002 Sep-Oct; 77(1-2):143-9. PMID: 12359142.
      View in: PubMed
    51. Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, Saudubray JM, Rostane H, Djouadi F, Wilcox W, Cederbaum S, Haas R, Nyhan WL, Green A, Gray G, Girard J, Thuillier L. Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. Hum Genet. 2002 Aug; 111(2):179-89. PMID: 12189492.
      View in: PubMed
    52. Nyhan WL, Gargus JJ, Boyle K, Selby R, Koch R. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur J Pediatr. 2002 Jul; 161(7):377-9. PMID: 12111189.
      View in: PubMed
    53. Nyhan WL. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect. 2000 Jun; 108 Suppl 3:409-11. PMID: 10852837; PMCID: PMC1637829.