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William Nyhan

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Khue V Nguyen; William L Nyhan
Identification of novel mutations in the human HPRT gene.
William L Nyhan
On being a Doctor... "and describe a disease not previously reported, Lesch--Nyhan disease".
Khue V Nguyen; Robert K Naviaux; Kacie K Paik; William L Nyhan
Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.

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All Publications

2013: Khue V Nguyen; William L Nyhan
Identification of novel mutations in the human HPRT gene.
Nucleosides, nucleotides & nucleic acids 2013;32(3):155-60.
2012: William L Nyhan
On being a Doctor... "and describe a disease not previously reported, Lesch--Nyhan disease".
Revista clínica española 2012;212(9):462-4.
2012: Khue V Nguyen; Robert K Naviaux; Kacie K Paik; William L Nyhan
Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.
Molecular genetics and metabolism 2012;106(4):498-501.
2012: Sook Z Kim; Roseann Mandell; William L Nyhan; Can Ficicioglu; Wung J Song; Vivian E Shih
Long-term follow-up of four patients affected by HHH syndrome.
Clinica chimica acta; international journal of clinical chemistry 2012;413(13-14):1151-5.
2012: Khue V Nguyen; Tomohiro Nakayama; Robert K Naviaux; Kacie K Paik; William L Nyhan
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.
2011: Jennifer L Sloan; Justin R Sysol; Vassilli Valayannopoulos; Bruce A Barshop; Susan A Berry; Leslie G Biesecker; Nuria Carrillo-Carrasco; Neena L Champaigne; Randy J Chandler; Suma D Chandrasekaran; Pascale de Lonlay; Heidi Dorward; Dimitar K Gavrilov; Michael D Geschwind; Natalie S Hauser; Marjan Huizing; Philip M James; Jennifer J Johnston; Caitlin Krause; Irini Manoli; William L Nyhan; Kevin O'Brien; Julie C Sapp; Charles Venditti
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Nature genetics 2011;43(9):883-6.
2011: Khue V Nguyen; Robert K Naviaux; Kacie K Paik; William L Nyhan
Novel mutations in the human HPRT gene.
Nucleosides, nucleotides & nucleic acids 2011;30(6):440-5.
2011: Khue Vu Nguyen; Robert K Naviaux; Satyajit Patra; Bruce A Barshop; William L Nyhan
Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
Molecular genetics and metabolism 2011;102(2):218-21.
2010: Paola de Gemmis; Laura Anesi; Elisa Lorenzetto; Ilenia Gioachini; Elisabetta Fortunati; Gessica Zandonà; Erika Fanin; Lynette Fairbanks; Gilberto Andrighetto; Pietro Parmigiani; Diego Dolcetta; William L Nyhan; Uros Hladnik
Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.
Mutation research 2010;692(1-2):1-5.
2010: Kyriakie Sarafoglou; Krista Grosse-Redlinger; Christopher J Boys; Laurence Charnas; Noelle Otten; Robyn Broock; William L Nyhan
Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members.
Archives of neurology 2010;67(6):761-4.
2009: Janet Klein; William L Nyhan; Mark Kern
The effects of alanine ingestion on metabolic responses to exercise in cyclists.
Amino acids 2009;37(4):673-80.
2008: Susan R Crutchfield; Richard Haas; William L Nyhan; K Michael Gibson
'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'.
Developmental medicine and child neurology 2008;50(11):880-1.
2008: Uros Hladnik; William L Nyhan; Matteo Bertelli
Variable expression of HPRT deficiency in 5 members of a family with the same mutation.
Archives of neurology 2008;65(9):1240-3.
2008: Paul J Isackson; Michael J Bennett; Uta Lichter-Konecki; Mary Willis; William L Nyhan; V Reid Sutton; Ingrid Tein; Georgirene D Vladutiu
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
Molecular genetics and metabolism 2008;94(4):422-7.
2008: William L Nyhan
Lesch-Nyhan disease.
Nucleosides, nucleotides & nucleic acids 2008;27(6):559-63.
2007: Jamie Lien; William L Nyhan; Bruce A Barshop
Fatal initial adult-onset presentation of urea cycle defect.
Archives of neurology 2007;64(12):1777-9.
2006: Susen Hartmann; Jürgen G Okun; Christiane Schmidt; Claus-Dieter Langhans; Sven F Garbade; Peter Burgard; Dorothea Haas; Jörn Oliver Sass; William L Nyhan; Georg F Hoffmann
Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry.
Clinical chemistry 2006;52(6):1127-37.
2006: Ali N Al Odaib; Mohamed S Rashed; Theodore Page; William L Nyhan; Pinar T Ozand
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome.
Saudi medical journal 2006;27(5):732-3.
2006: Ajai Khanna; Marquis Hart; William L Nyhan; Tarek I Hassanein; Janice Panyard-Davis; Bruce A Barshop
Domino liver transplantation in maple syrup urine disease.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society 2006;12(5):876-82.
2006: Hyder A Jinnah; Jasper E Visser; James C Harris; Alfonso Verdu; Laura Elena Laróvere; Irène Ceballos-Picot; Pedro Gonzalez-Alegre; Vladimir Kostadinov Neychev; Rosa J Torres; Olivier Dulac; Isabelle Desguerre; David J Schretlen; Kenneth Robey; Gabor Barabas; Bastiaan R Bloem; William L Nyhan; Raquel Dodelson de Kremer; Gary E Eddey; Juan G Puig; Stephen G Reich
Delineation of the motor disorder of Lesch-Nyhan disease.
Brain : a journal of neurology 2006;129(Pt 5):1201-17.
2005: David J Schretlen; Julianna Ward; Stephen M Meyer; Jonathan Yun; Juan G Puig; William L Nyhan; Hyder A Jinnah; James C Harris
Behavioral aspects of Lesch-Nyhan disease and its variants.
Developmental medicine and child neurology 2005;47(10):673-7.
2005: William L Nyhan
Disorders of purine and pyrimidine metabolism.
Molecular genetics and metabolism 2005;86(1-2):25-33.
2005: Cibele S Pinto; Hyder A Jinnah; Thomas L Shirley; William L Nyhan; Roland Seifert
Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines.
Journal of neurochemistry 2005;93(6):1579-86.
2005: Laura De Gregorio; Hyder A Jinnah; James C Harris; William L Nyhan; David J Schretlen; Lucy M Trombley; J Patrick O'Neill
Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
Molecular genetics and metabolism 2005;85(1):70-7.
2005: William L Nyhan
Lesch-Nyhan Disease.
Journal of the history of the neurosciences 2005;14(1):1-10.
2005: William L Nyhan
Inherited hyperuricemic disorders.
Contributions to nephrology 2005;147():22-34.
2004: Hyder A Jinnah; James C Harris; William L Nyhan; J Patrick O'Neill
The spectrum of mutations causing HPRT deficiency: an update.
Nucleosides, nucleotides & nucleic acids 2004;23(8-9):1153-60.
2004: Bruce A Barshop; Robert K Naviaux; Karen A McGowan; Fred Levine; William L Nyhan; Amalia Loupis-Geller; Richard Haas
Chronic treatment of mitochondrial disease patients with dichloroacetate.
Molecular genetics and metabolism 2004;83(1-2):138-49.
2004: Karen A McGowan; William L Nyhan; Bruce A Barshop; Robert K Naviaux; Alice L Yu; Richard Haas; Jeannette J Townsend
The role of methionine in ethylmalonic encephalopathy with petechiae.
Archives of neurology 2004;61(4):570-4.
2003: William L Nyhan; Linh-Uyen C Vuong; Robyn Broock
Prenatal diagnosis of Lesch-Nyhan disease.
Prenatal diagnosis 2003;23(10):807-9.
2003: Chie Ohdoi; William L Nyhan; Tomiko Kuhara
Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2003;792(1):123-30.
2003: Sylvia Capistrano-Estrada; William L Nyhan
6-pyruvoyl tetrahydropterin synthase deficiency: a case report.
The Southeast Asian journal of tropical medicine and public health 2003;34 Suppl 3():186-8.
2002: William L Nyhan; Ajai Khanna; Bruce A Barshop; Robert K Naviaux; Andrew F Precht; Joel Edward Lavine; Marquis A Hart; Bryan E Hainline; Rebecca S Wappner; Sharon Nichols; Richard Haas
Pyruvate carboxylase deficiency--insights from liver transplantation.
Molecular genetics and metabolism 2002;77(1-2):143-9.
2002: Stéphanie Gobin; Jean-Paul Bonnefont; Carina Prip-Buus; Claude Mugnier; Magali Ferrec; France Demaugre; Jean-Marie Saudubray; Hidayeth Rostane; Fatima Djouadi; William Wilcox; Stephen Cederbaum; Richard Haas; William L Nyhan; Anne Green; George Gray; JEAN R GIRARD; Laure Thuillier
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
Human genetics 2002;111(2):179-89.
2002: William L Nyhan; J Jay Gargus; Karen Boyle; Rick Selby; Richard Koch
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver.
European journal of pediatrics 2002;161(7):377-9.
2001: Deborah Marsden; William L Nyhan; Bruce A Barshop
Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation.
European journal of pediatrics 2001;160(10):599-602.
2001: Bruce A Barshop; William L Nyhan; Consuelo Climent; Vicente Rubio
Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.
Journal of inherited metabolic disease 2001;24(4):513-4.
2001: L Spruijt; Robert K Naviaux; Karen A McGowan; William L Nyhan; G Sheean; Richard Haas; Bruce A Barshop
Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate.
Muscle & nerve 2001;24(7):916-24.
2001: Andreas Holzinger; Wulf Röschinger; Florian Lagler; Peter U Mayerhofer; P Lichtner; T Kattenfeld; LP Thuy; William L Nyhan; Hans Georg Koch; Ania C Muntau; Adelbert A Roscher
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.
Human molecular genetics 2001;10(12):1299-306.
2001: M Bodman; D Smith; William L Nyhan; Robert K Naviaux
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father.
Archives of neurology 2001;58(5):811-4.
2001: Stephen R Schroeder; M L Oster-Granite; G Berkson; James W Bodfish; George R Breese; Michael F Cataldo; Edwin H Cook; L S Crnic; Iser DeLeon; W Fisher; James C Harris; R H Horner; Brian Iwata; Hyder A Jinnah; B H King; Jean M Lauder; Mark H Lewis; K Newell; William L Nyhan; J Rojahn; G P Sackett; Curt A Sandman; Frank J Symons; Richard E Tessel; T Thompson; Dean F Wong
Self-injurious behavior: gene-brain-behavior relationships.
Mental retardation and developmental disabilities research reviews 2001;7(1):3-12.
2000: Hyder A Jinnah; Laura De Gregorio; James C Harris; William L Nyhan; J Patrick O'Neill
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
Mutation research 2000;463(3):309-26.
2000: William L Nyhan
Dopamine function in Lesch-Nyhan disease.
Environmental health perspectives 2000;108 Suppl 3():409-11.
2000: Laura De Gregorio; William L Nyhan; E Serafin; N A Chamoles
An unexpected affected female patient in a classical Lesch-Nyhan family.
Molecular genetics and metabolism 2000;69(3):263-8.
2000: Bruce A Barshop; William L Nyhan; Robert K Naviaux; Karen A McGowan; M Friedlander; Richard Haas
Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria.
Molecular genetics and metabolism 2000;69(1):64-8.
1999: Robert K Naviaux; D Markusic; Bruce A Barshop; William L Nyhan; Richard Haas
Sensitive assay for mitochondrial DNA polymerase gamma.
Clinical chemistry 1999;45(10):1725-33.
1999: William L Nyhan; C Bay; E W Beyer; M Mazi
Neurologic nonmetabolic presentation of propionic acidemia.
Archives of neurology 1999;56(9):1143-7.
1999: LP Thuy; E Jurecki; L Nemzer; William L Nyhan
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
Clinica chimica acta; international journal of clinical chemistry 1999;284(1):59-68.
1999: LP Thuy; J Belmont; William L Nyhan
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency.
Prenatal diagnosis 1999;19(2):108-12.
1999: Robert K Naviaux; William L Nyhan; Bruce A Barshop; J Poulton; D Markusic; N C Karpinski; Richard Haas
Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.
Annals of neurology 1999;45(1):54-8.
1998: G Diane Shelton; William L Nyhan; Philip H Kass; Bruce A Barshop; Richard Haas
Analysis of organic acids, amino acids, and carnitine in dogs with lipid storage myopathy.
Muscle & nerve 1998;21(9):1202-5.
1998: William L Nyhan; M Rice-Kelts; J Klein; Bruce A Barshop
Treatment of the acute crisis in maple syrup urine disease.
Archives of pediatrics & adolescent medicine 1998;152(6):593-8.
1998: T Page; Alice L Yu; J Fontenessi; William L Nyhan
A syndrome of seizures and pervasive developmental disorder associated with excessive cellular nucleotidase activity.
Advances in experimental medicine and biology 1998;431():789-92.
1997: T Page; Alice L Yu; J Fontanesi; William L Nyhan
Developmental disorder associated with increased cellular nucleotidase activity.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(21):11601-6.
1997: William L Nyhan
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.
Journal of inherited metabolic disease 1997;20(2):171-8.
1995: William L Nyhan; G D Shelton; C Jakobs; B Holmes; C Bowe; Cynthia J R Curry; C Vance; M Duran; Lawrence Sweetman
D-2-hydroxyglutaric aciduria.
Journal of child neurology 1995;10(2):137-42.
1995: R L Hamilton; Richard Haas; William L Nyhan; H C Powell; Marjorie R Grafe
Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions.
Journal of child neurology 1995;10(1):25-30.
1995: Richard Haas; D L Marsden; S Capistrano-Estrada; R Hamilton; Marjorie R Grafe; W Wong; William L Nyhan
Acute basal ganglia infarction in propionic acidemia.
Journal of child neurology 1995;10(1):18-22.
1994: D Marsden; William L Nyhan; N O Sakati
Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies.
American journal of medical genetics 1994;52(3):334-8.
1994: D Marsden; Bruce A Barshop; S Capistrano-Estrada; M Rice; C Prodanos; D Sartoris; J Wolff; K L Jones; S Spector; William L Nyhan
Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways.
Biochemical medicine and metabolic biology 1994;52(2):145-54.
1994: S Capistrano-Estrada; D L Marsden; William L Nyhan; R O Newbury; H F Krous; M Tuchman
Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency.
Pediatric pathology / affiliated with the International Paediatric Pathology Association 1994;14(2):235-43.
1994: Georg F Hoffmann; K M Gibson; Friedrich K Trefz; William L Nyhan; HJ Bremer; Dietz Rating
Neurological manifestations of organic acid disorders.
European journal of pediatrics 1994;153(7 Suppl 1):S94-100.
1994: T Page; Bruce A Barshop; Alice L Yu; William L Nyhan
Treatment of Lesch-Nyhan syndrome with AICAR.
Advances in experimental medicine and biology 1994;370():353-6.
1993: LP Thuy; William L Nyhan
High voltage electrophoresis of amino acids in urine containing ampicillin.
Clinical biochemistry 1993;26(5):389-90.
1993: G F Hoffmann; C K Seppel; B Holmes; L Mitchell; H J Christen; F Hanefeld; D Rating; William L Nyhan
Quantitative organic acid analysis in cerebrospinal fluid and plasma: reference values in a pediatric population.
Journal of chromatography 1993;617(1):1-10.
1993: Georg F Hoffmann; W Meier-Augenstein; S Stöckler; R Surtees; Dietz Rating; William L Nyhan
Physiology and pathophysiology of organic acids in cerebrospinal fluid.
Journal of inherited metabolic disease 1993;16(4):648-69.
1993: Ira T Lott; S Lottenberg; William L Nyhan; M J Buchsbaum
Cerebral metabolic change after treatment in biotinidase deficiency.
Journal of inherited metabolic disease 1993;16(2):399-407.
1992: D Marsden; K Sege-Petersen; William L Nyhan; W Roschinger; Lawrence Sweetman
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency.
American journal of diseases of children (1960) 1992;146(12):1459-62.
1992: LP Thuy; William L Nyhan
A new quantitative assay for glycosaminoglycans.
Clinica chimica acta; international journal of clinical chemistry 1992;212(1-2):17-26.
1992: William L Nyhan; S Hilton
Histidinuria: defective transport of histidine.
American journal of medical genetics 1992;44(5):558-61.
1992: LP Thuy; William L Nyhan
A screening method for cystine and homocystine in urine.
Clinica chimica acta; international journal of clinical chemistry 1992;211(3):175-9.
1992: M Borden; J Holm; J Leslie; Lawrence Sweetman; William L Nyhan; L Fleisher; H Nadler; D Lewis; C R Scott
Hawkinsinuria in two families.
American journal of medical genetics 1992;44(1):52-6.
1992: K Sege-Peterson; J Chambers; T Page; Oliver W Jones; William L Nyhan
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.
Human molecular genetics 1992;1(6):427-32.
1991: F J Ko; William L Nyhan; J Wolff; Bruce A Barshop; Lawrence Sweetman
3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism.
Pediatric research 1991;30(4):322-6.
1991: Bruce A Barshop; I Yoshida; A Ajami; Lawrence Sweetman; J A Wolff; F R Sweetman; C Prodanos; M Smith; William L Nyhan
Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.
Pediatric research 1991;30(1):15-22.
1991: Georg F Hoffmann; Lawrence Sweetman; HJ Bremer; D H Hunneman; Josef Hyánek; Viktor Kozich; Willy Lehnert; William L Nyhan; I Speidel; Friedrich K Trefz
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.
Clinica chimica acta; international journal of clinical chemistry 1991;198(3):209-27.
1991: S Aramaki; D Lehotay; Lawrence Sweetman; William L Nyhan; S C Winter; B Middleton
Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency.
Journal of inherited metabolic disease 1991;14(1):63-74.
1991: T Page; William L Nyhan; Alice L Yu; J Yu
A syndrome of megaloblastic anemia, immunodeficiency, and excessive nucleotide degradation.
Advances in experimental medicine and biology 1991;309B():345-8.
1990: G Pintos-Morell; R Haas; C Prodanos; S DiMauro; William L Nyhan
Cytochrome c oxidase deficiency in muscle with dicarboxylic aciduria and renal tubular acidosis.
Journal of child neurology 1990;5(2):147-52.
1990: K Michael Gibson; G Hoffmann; A Schwall; R L Broock; S Aramaki; Lawrence Sweetman; William L Nyhan; I K Brandt; R S Wappner; Willy Lehnert
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.
Journal of lipid research 1990;31(3):515-21.
1990: K Michael Gibson; S Aramaki; Lawrence Sweetman; William L Nyhan; D C DeVivo; A K Hodson; C Jakobs
Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria.
Biomedical & environmental mass spectrometry 1990;19(2):89-93.
1990: Bruce A Barshop; J Wolff; William L Nyhan; Alice L Yu; C Prodanos; G Jones; Lawrence Sweetman; J Leslie; J Holm; Ralph Green
Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin.
American journal of medical genetics 1990;35(2):222-8.
1989: William L Nyhan; JT Mascarello; Bruce A Barshop; D Doroski; K Hirschhorn
Duplication of 16q and deletion of 15q.
American journal of medical genetics 1989;34(2):183-6.
1989: K Narisawa; K Michael Gibson; Lawrence Sweetman; William L Nyhan
3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.
Clinica chimica acta; international journal of clinical chemistry 1989;184(1):57-64.
1989: J A Wolff; Bruce A Barshop; William L Nyhan; J Leslie; J E Seegmiller; H Gruber; M Garst; S Winter; K Michals; R Matalon
Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy.
Pediatric research 1989;26(2):140-4.
1989: G A Press; Bruce A Barshop; Richard Haas; William L Nyhan; R F Glass; J R Hesselink
Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations.
AJNR. American journal of neuroradiology 1989;10(2):315-21.
1989: K Michael Gibson; William L Nyhan
Metabolism of [U-14C]-4-hydroxybutyric acid to intermediates of the tricarboxylic acid cycle in extracts of rat liver and kidney mitochondria.
European journal of drug metabolism and pharmacokinetics 1989;14(1):61-70.
1989: T Page; William L Nyhan
The spectrum of HPRT deficiency: an update.
Advances in experimental medicine and biology 1989;253A():129-33.
1989: William L Nyhan; B B Wulfeck; P Tallal; D L Marsden
Metabolic correlates of learning disability.
Birth defects original article series 1989;25(6):153-69.
1989: K Michael Gibson; J L Lohr; R L Broock; G Hoffmann; William L Nyhan; Lawrence Sweetman; I K Brandt; R S Wappner; P I Bader
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.
1989: S Aramaki; D Lehotay; William L Nyhan; P M MacLeod; Lawrence Sweetman
Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia.
Journal of inherited metabolic disease 1989;12(1):86-8.
1989: Bruce A Barshop; J Breuer; J Holm; J Leslie; William L Nyhan
Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia.
Journal of inherited metabolic disease 1989;12(1):72-9.
1988: K Michael Gibson; J Breuer; William L Nyhan
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.
European journal of pediatrics 1988;148(3):180-6.
1988: K Michael Gibson; G Hoffmann; William L Nyhan; Lawrence Sweetman; R Berger; R le Coultre; G P Smit
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.
European journal of pediatrics 1988;148(3):250-2.
1988: K Michael Gibson; William L Nyhan; Lawrence Sweetman; K Narisawa; W Lehnert; P Divry; B H Robinson; K S Roth; F A Beemer; F J van Sprang
3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.
European journal of pediatrics 1988;148(1):76-82.
1988: P P Pattarelli; William L Nyhan; K Michael Gibson
Oxidation of [U-14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria.
Pediatric research 1988;24(4):455-60.
1988: K Michael Gibson; G Hoffmann; William L Nyhan; S Aramaki; J A Thompson; S I Goodman; D A Johnson; R R Fife
4-Hydroxybutyric aciduria in a patient without ataxia or convulsions.
European journal of pediatrics 1988;147(5):529-31.
1988: K Michael Gibson; J Breuer; K Kaiser; William L Nyhan; E E McCoy; P Ferreira; Carol L Greene; Miriam G Blitzer; E Shapira; F Reverte
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.
Journal of inherited metabolic disease 1988;11(1):76-87.
1987: William L Nyhan
Inborn errors of biotin metabolism.
Archives of dermatology 1987;123(12):1696-1698a.
1986: L P Thuy; B Zielinska; E Zammarchi; E Pavari; A Vierucci; F Sweetman; L Sweetman; William L Nyhan
Multiple carboxylase deficiency due to deficiency of biotinidase.
Journal of neurogenetics 1986;3(6):357-63.
1986: F R Sweetman; K M Gibson; Lawrence Sweetman; William L Nyhan; H Chin; W Swartz; Oliver W Jones
Activity of biotin-dependent and GABA metabolizing enzymes in chorionic villus samples: potential for 1st trimester prenatal diagnosis.
Prenatal diagnosis 1986;6(3):187-94.
1986: J Wolff; William L Nyhan; H Powell; D Takahashi; J Hutzler; Amiya K Hajra; Nabanita S Datta; I Singh; H W Moser
Myopathy in an infant with a fatal peroxisomal disorder.
Pediatric neurology 1986;2(3):141-6.
1986: J A Wolff; James E Carroll; C Prodanos; R Haas; William L Nyhan
Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism.
Lancet 1986;1(8476):289-91.
1985: J A Wolff; D G Kelts; S Algert; C Prodanos; William L Nyhan
Alanine decreases the protein requirements of infants with inborn errors of amino acid metabolism.
Journal of neurogenetics 1985;2(1):41-9.
1985: J A Wolff; C Strom; W Griswold; F Sweetman; S Kulovich; C Prodanos; William L Nyhan
Proximal renal tubular acidosis in methylmalonic acidemia.
Journal of neurogenetics 1985;2(1):31-9.