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Author Details

William L Nyhan
University of California
1952
454
66
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
32312153Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).Nucleosides Nucleotides Nucleic Acids2020
32685343The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation.JIMD Rep2020
31404531Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.Clin Chim Acta2019
27858372Severe 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 Rep2017
28192196Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease.Neurosci Lett2017
28102781A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene.Nucleosides Nucleotides Nucleic Acids2017
29185864Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.Nucleosides Nucleotides Nucleic Acids2017
28524722Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.Nucleosides Nucleotides Nucleic Acids2017
28045594Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.Nucleosides Nucleotides Nucleic Acids2017
26219882Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia.JIMD Rep2016
27574833Hereditary Orotic Aciduria and the Excretion of Orotidine.Neuropediatrics2016
27379977Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.Nucleosides Nucleotides Nucleic Acids2016
26922636A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease.Mol Genet Metab2016
25665838Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.JIMD Rep2015
26132002Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper.Curr Protoc Hum Genet2015
25965333Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.Nucleosides Nucleotides Nucleic Acids2015
25680927Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome.Mol Genet Metab2015
23975452Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.Brain2014
24268530Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.Mol Genet Metab2014
23473102Identification of novel mutations in the human HPRT gene.Nucleosides Nucleotides Nucleic Acids2013
23949796Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease.J Am Soc Nephrol2013
24001191Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients.Nucleosides Nucleotides Nucleic Acids2013
22465082Long-term follow-up of four patients affected by HHH syndrome.Clin Chim Acta2012
23227468On being a Doctor... "and describe a disease not previously reported, Lesch--Nyhan disease".Rev Clin Esp2012
22766437Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.Mol Genet Metab2012
22908952Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members.Nucleosides Nucleotides Nucleic Acids2012
21071250Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.Mol Genet Metab2011
21780909Novel mutations in the human HPRT gene.Nucleosides Nucleotides Nucleic Acids2011
21841779Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.Nat Genet2011
20176575Attenuated variants of Lesch-Nyhan disease.Brain2010
20558399Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members.Arch Neurol2010
20638392Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.Mutat Res2010
18850309The effects of alanine ingestion on metabolic responses to exercise in cyclists.Amino Acids2009
19357990Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.J Inherit Metab Dis2009
18600504Lesch-Nyhan disease.Nucleosides Nucleotides Nucleic Acids2008
18779430Variable expression of HPRT deficiency in 5 members of a family with the same mutation.Arch Neurol2008
18811705'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'.Dev Med Child Neurol2008
18550408CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.Mol Genet Metab2008
18071043Fatal initial adult-onset presentation of urea cycle defect.Arch Neurol2007
16613999Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry.Clin Chem2006
16549399Delineation of the motor disorder of Lesch-Nyhan disease.Brain2006
166802733-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome.Saudi Med J2006
16628687Domino liver transplantation in maple syrup urine disease.Liver Transpl2006
15804753Lesch-Nyhan Disease.J Hist Neurosci2005
16176880Disorders of purine and pyrimidine metabolism.Mol Genet Metab2005
16174310Behavioral aspects of Lesch-Nyhan disease and its variants.Dev Med Child Neurol2005
15935074Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines.J Neurochem2005
15862283Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.Mol Genet Metab2005
15604603Inherited hyperuricemic disorders.Contrib Nephrol2005
15096407The role of methionine in ethylmalonic encephalopathy with petechiae.Arch Neurol2004
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Collaborators

Bruce A Barshop
University of California San Diego
Co-authored papers 31
Robert K Naviaux
University of California, San Diego School of Medicine
Co-authored papers 17
Richard Haas
University of California
Co-authored papers 17
Jon A Gangoiti
University of California
Co-authored papers 5
Ajai Khanna
Co-authored papers 3
Susan A Berry
University of Minnesota
Co-authored papers 2
Robert L Nussbaum
Invitae Corporation
Co-authored papers 2
Jaak Jaeken
Co-authored papers 2
Howard M Cann
Co-authored papers 2
Martin Friedlander
the Scripps Research Institute
Co-authored papers 1
Lin Wang
University of California, San Diego School of Medicine
Co-authored papers 1
Sanjay K Nigam
university of california san diego
Co-authored papers 1
John Christodoulou
University of Melbourne, The Royal Children's Hospital
Co-authored papers 1
Clemens D Cohen
Medical Clinic and Policlinic IV, University of Munich
Co-authored papers 1
Loki Natarajan
Herbert Wertheim School of Public Health, University of California
Co-authored papers 1
Edwin H Cook
Co-authored papers 1
Bethany E Karl
University of California
Co-authored papers 1
Per-Henrik Groop
Folkhalsan Institute of Genetics, Folkhalsan Research Center
Co-authored papers 1
Anna V Mathew
University of Michigan-Ann Arbor
Co-authored papers 1
Shoba Sharma
Clinical Metabolomics
Co-authored papers 1
Jennifer J Johnston
Center for Precision Health Research, National Human Genome Research Institute
Co-authored papers 1
Mary Lou Oster-Granite
Co-authored papers 1
John W Belmont
Baylor College of Medicine
Co-authored papers 1
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 1
Jeffrey B Kopp
National Institutes of Health, National Institute of Diabetes
Co-authored papers 1
Brad Angle
Advocate Children's Hospital
Co-authored papers 1
Andrew A M Morris
Alder Hey Children's NHS Foundation Trust
Co-authored papers 1
Vernon R Sutton
Baylor College of Medicine
Co-authored papers 1
Christina L Wassel
Premier Inc.
Co-authored papers 1
Joachim H Ix
University of California
Co-authored papers 1
Release 1.2