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William Nyhan

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Hyder A Jinnah; Irene Ceballos-Picot; Rosa J Torres; Jasper E Visser; David J Schretlen; Alfonso Verdu; Laura Elena Laróvere; Chung-Jen Chen; Antonello Cossu; Chien-Hui Wu; Radhika Sampat; Shun-Jen Chang; Raquel Dodelson de Kremer; William Nyhan; James C Harris; Stephen G Reich; Juan G Puig
Attenuated variants of Lesch-Nyhan disease.
V Prietsch; M Lindner; J Zschocke; William Nyhan; G F Hoffmann
Emergency management of inherited metabolic diseases.
L K Medina-Kauwe; Allan J Tobin; L De Meirleir; J Jaeken; C Jakobs; William Nyhan; K M Gibson
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.

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All Publications

2010: Hyder A Jinnah; Irene Ceballos-Picot; Rosa J Torres; Jasper E Visser; David J Schretlen; Alfonso Verdu; Laura Elena Laróvere; Chung-Jen Chen; Antonello Cossu; Chien-Hui Wu; Radhika Sampat; Shun-Jen Chang; Raquel Dodelson de Kremer; William Nyhan; James C Harris; Stephen G Reich; Juan G Puig
Attenuated variants of Lesch-Nyhan disease.
Brain : a journal of neurology 2010;133(Pt 3):671-89.
2002: V Prietsch; M Lindner; J Zschocke; William Nyhan; G F Hoffmann
Emergency management of inherited metabolic diseases.
Journal of inherited metabolic disease 2002;25(7):531-46.
1999: L K Medina-Kauwe; Allan J Tobin; L De Meirleir; J Jaeken; C Jakobs; William Nyhan; K M Gibson
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
Journal of inherited metabolic disease 1999;22(4):414-27.
1999: William Nyhan; J Zschocke; G Hoffmann; D E Stein; L Bao; S Goodman
Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.
Molecular genetics and metabolism 1999;66(3):199-204.
1999: Marjo S van der Knaap; C Jakobs; G F Hoffmann; William Nyhan; W O Renier; Jan A M Smeitink; Coriene E Catsman-Berrevoets; O Hjalmarson; H Vallance; K Sugita; C M Bowe; J T Herrin; W J Craigen; N R Buist; D S Brookfield; R A Chalmers
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?
Annals of neurology 1999;45(1):111-9.
1998: Y Anikster; William Nyhan; William A Gahl
NTBC and alkaptonuria.
American journal of human genetics 1998;63(3):920-1.
1998: L K Medina-Kauwe; William Nyhan; K M Gibson; Allan J Tobin
Identification of a familial mutation associated with GABA-transaminase deficiency disease.
Neurobiology of disease 1998;5(2):89-96.
1996: Michael Podell; G D Shelton; William Nyhan; SO Wagner; A Genders; Michael Oglesbee; W R Fenner
Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy.
Metabolic brain disease 1996;11(3):239-47.
1996: William Nyhan; Dean F Wong
New approaches to understanding Lesch-Nyhan disease.
The New England journal of medicine 1996;334(24):1602-4.
1996: K M Gibson; M J Bennett; William Nyhan; C E Mize
Late-onset holocarboxylase synthetase deficiency.
Journal of inherited metabolic disease 1996;19(6):739-42.
1996: E Chen; William Nyhan; C Jakobs; C M Greco; A J Barkovich; V A Cox; S Packman
L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death.
Journal of inherited metabolic disease 1996;19(3):335-43.
1995: William Nyhan
Diagnosing disorders of fatty acid oxidation.
Clinical chemistry 1995;41(1):10-1.
1995: Georg F Hoffmann; C Jakobs; B Holmes; L Mitchell; G Becker; H P Hartung; William Nyhan
Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria.
Journal of inherited metabolic disease 1995;18(2):189-93.
1994: Pinar T Ozand; William Nyhan; A al Aqeel; J Christodoulou
Malonic aciduria.
Brain & development 1994;16 Suppl():7-11.
1994: Ramon Luis Zapata-Sirvent; J F Hansbrough; M M Ohara; M Rice-Asaro; William Nyhan
Bacterial translocation in burned mice after administration of various diets including fiber- and glutamine-enriched enteral formulas.
Critical care medicine 1994;22(4):690-6.
1993: R Buchta; William Nyhan; R Broock; P Schragg
Carnitine in adolescents.
The Journal of adolescent health : official publication of the Society for Adolescent Medicine 1993;14(6):440-1.
1993: W Meier-Augenstein; G F Hoffmann; B Holmes; J L Jones; William Nyhan; L Sweetman
Use of a thick-film capillary column for the analysis of organic acids in body fluids.
Journal of chromatography 1993;615(1):127-35.
1993: M Tuchman; S A Berry; L P Thuy; William Nyhan
Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia.
Pediatrics 1993;91(3):664-6.
1993: K Michael Gibson; C F Lee; M J Bennett; B Holmes; William Nyhan
Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism?
Journal of inherited metabolic disease 1993;16(3):563-7.
1992: D L Marsden; William Nyhan
Neurological diseases in disorders of organic acids.
Current opinion in neurology and neurosurgery 1992;5(3):349-54.
1991: L P Thuy; L Sweetman; William Nyhan
A new immunochemical assay for biotin.
Clinica chimica acta; international journal of clinical chemistry 1991;202(3):191-7.
1991: S Shebib; Claes Hugosson; Nadia A Sakati; William Nyhan
Osteodysplastic variant of primordial dwarfism.
American journal of medical genetics 1991;40(2):146-50.
1990: H Nazer; T S Gunasekaran; Nadia A Sakati; William Nyhan
Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins.
American journal of medical genetics 1990;37(4):516-8.
1990: William Nyhan
Structural abnormalities. A systematic approach to diagnosis.
Clinical symposia (Summit, N.J. : 1957) 1990;42(2):1-32.
1990: Ichiro Yoshida; L Sweetman; S Kulovich; William Nyhan; B H Robinson
Effect of lipoic acid in a patient with defective activity of pyruvate dehydrogenase, 2-oxoglutarate dehydrogenase, and branched-chain keto acid dehydrogenase.
Pediatric research 1990;27(1):75-9.
1989: Jean-Paul Bonnefont; R Haas; J Wolff; L P Thuy; R Buchta; James E Carroll; J M Saudubray; France Demaugre; William Nyhan
Deficiency of carnitine palmitoyltransferase I.
Journal of child neurology 1989;4(3):198-203.
1989: G Hoffmann; S Aramaki; E Blum-Hoffmann; William Nyhan; L Sweetman
Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis.
Clinical chemistry 1989;35(4):587-95.
1988: William Nyhan
Abnormalities of fatty acid oxidation.
The New England journal of medicine 1988;319(20):1344-6.
1988: H Najjar; MOHAMED MARDINI; R Tabbaa; William Nyhan
Variability of the Holt-Oram syndrome in Saudi individuals.
American journal of medical genetics 1988;29(4):851-5.
1988: William Nyhan
Multiple carboxylase deficiency.
The International journal of biochemistry 1988;20(4):363-70.
1988: I Harwood; F Rosas; D K Edwards; J Kelso; William Nyhan
Cystic fibrosis.
The Western journal of medicine 1988;148(1):62-9.
1988: G Hoffmann; K M Gibson; William Nyhan; L Sweetman
Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts.
Journal of inherited metabolic disease 1988;11 Suppl 2():229-32.
1987: H Eugene Hoyme; K L Jones; William Nyhan; R M Pauli; M Robinow
Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation.
The Journal of pediatrics 1987;111(4):538-43.
1987: K Hayasaka; K Tada; N Fueki; Y Nakamura; William Nyhan; K Schmidt; S Packman; M R Seashore; E Haan; D M Danks
Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases.
The Journal of pediatrics 1987;110(6):873-7.
1987: T Page; William Nyhan; V Morena de Vega
Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Pediatrics 1987;79(5):713-7.
1987: S Petrowski; William Nyhan; V Reznik; L Sweetman; S Kulovich; J Wolff; G Jones
Pharmacologic amino acid acylation in the acute hyperammonemia of propionic acidemia.
Journal of neurogenetics 1987;4(2-3):87-96.
1987: S J Jacobsen; T Page; E S Diala; William Nyhan; R K Robins; J H Mangum
Synergistic activity of purine metabolism inhibitors in cultured human tumor cells.
Cancer letters 1987;35(1):97-104.
1987: T Page; William Nyhan
Metabolism of leucine in fibroblasts with defects in the leucine catabolic pathway.
The International journal of biochemistry 1987;19(8):713-6.
1987: A Jordá; M Portolés; F Bonilla-Musoles; L Sweetman; William Nyhan
Non-ketotic hyperglycinaemia: prenatal diagnosis and detection of heterozygotes with glycine/serine ratios.
Journal of inherited metabolic disease 1987;10(2):198-9.
1987: William Nyhan
Retinoblastoma--genetic insights into neoplasia.
BioEssays : news and reviews in molecular, cellular and developmental biology 1987;6(1):5-8.
1986: Dennis Carey; Marc K Drezner; J A Hamdan; M Mange; M S Ahmad; S Mubarak; William Nyhan
Hypophosphatemic rickets/osteomalacia in linear sebaceous nevus syndrome: a variant of tumor-induced osteomalacia.
The Journal of pediatrics 1986;109(6):994-1000.
1986: Joseph H Hersh; T Page; M E Hand; J E Seegmiller; William Nyhan; B Weisskopf
Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency.
Pediatric neurology 1986;2(5):302-4.
1986: William Nyhan; N Wilson; N G Powers; M Zwass; S Hilton; S Spector; D Albert; P Juarez; I A Kaufman
Intussusception.
The Western journal of medicine 1986;144(6):722-7.
1986: J A Wolff; S Kulovich; A L Yu; C N Qiao; William Nyhan
The effectiveness of benzoate in the management of seizures in nonketotic hyperglycinemia.
American journal of diseases of children (1960) 1986;140(6):596-602.
1986: B Middleton; K Bartlett; A Romanos; J Gomez Vazquez; C Conde; R A Cannon; M Lipson; L Sweetman; William Nyhan
3-Ketothiolase deficiency.
European journal of pediatrics 1986;144(6):586-9.
1986: K Narisawa; K M Gibson; L Sweetman; William Nyhan; M Duran; S K Wadman
Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.
The Journal of clinical investigation 1986;77(4):1148-52.
1986: T M Page; R L Broock; William Nyhan; L H Nieto
Use of selective media for distinguishing variant forms of hypoxanthine phosphoribosyl transferase.
Clinica chimica acta; international journal of clinical chemistry 1986;154(3):195-201.
1986: I Yoshida; L Sweetman; William Nyhan
Metabolism of branched-chain amino acids in fibroblasts from patients with maple syrup urine disease and other abnormalities of branched-chain ketoacid dehydrogenase activity.
Pediatric research 1986;20(2):169-74.
1986: K M Gibson; William Nyhan; J Jaeken
Inborn errors of GABA metabolism.
BioEssays : news and reviews in molecular, cellular and developmental biology 1986;4(1):24-7.
1986: H Manzke; H Gustmann; H G Koke; William Nyhan
Hypoxanthine and tetrahydrobiopterin treatment of a patient with features of the Lesch-Nyhan syndrome.
Advances in experimental medicine and biology 1986;195 Pt A():197-203.
1986: William Nyhan; R Parkman; T Page; H E Gruber; J Pyati; D Jolly; T Friedmann
Bone marrow transplantation in Lesch-Nyhan disease.
Advances in experimental medicine and biology 1986;195 Pt A():167-70.
1986: William Nyhan; T Page; H E Gruber; R Parkman
Bone marrow transplantation in Lesch-Nyhan disease.
Birth defects original article series 1986;22(1):113-7.
1986: L Sweetman; William Nyhan
Inheritable biotin-treatable disorders and associated phenomena.
Annual review of nutrition 1986;6():317-43.
1986: T M Page; S J Jacobsen; William Nyhan; J H Mangum; R K Robins
The metabolism of 3-deazaguanine and 3-deazaguanosine by human cells in culture.
The International journal of biochemistry 1986;18(10):957-60.
1985: T Page; William Nyhan
Separation of the intermediates of leucine catabolism by high-performance liquid chromatography.
Biochemical medicine 1985;34(3):297-303.
1985: I Yoshida; O Søvik; L Sweetman; William Nyhan
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.
Journal of neurogenetics 1985;2(6):413-24.
1985: William Nyhan; M Sawyer; T Kearney; S Spector; S Hilton
Lead intoxication in children.
The Western journal of medicine 1985;143(3):357-64.
1985: William Nyhan
Neonatal screening for inherited disease.
The New England journal of medicine 1985;313(1):43-4.
1985: K M Gibson; L Sweetman; I Jansen; G K Brown; E A Haan; D M Danks; William Nyhan
Properties of succinic semialdehyde dehydrogenase in cultured human lymphoblasts.
Journal of neurogenetics 1985;2(2):111-22.
1985: MOHAMED MARDINI; William Nyhan
Agenesis of the lung. Report of four patients with unusual anomalies.
Chest 1985;87(4):522-7.
1985: B J Burri; L Sweetman; William Nyhan
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
American journal of human genetics 1985;37(2):326-37.
1985: Luis Hernández-Nieto; William Nyhan; T Page; G Cubillo Ferreira; M Rodríguez Fernández; T González García; A Cabrera de León; Francisco Santolaria-Fernández
[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].
Medicina clínica 1985;84(2):68-71.
1985: T Page; S J Jacobsen; R M Smejkal; J Scheele; William Nyhan; J H Mangum; R K Robins
Studies on the mechanism of cytotoxicity of 3-deazaguanosine in human cancer cells.
Cancer chemotherapy and pharmacology 1985;15(1):59-62.
1985: William Nyhan; J Wolff; S Kulovich; A E Shumacher
Intestinal obstruction due to peritoneal adhesions as a complication of peritoneal dialysis for neonatal hyperammonemia.
European journal of pediatrics 1985;143(3):211-3.
1985: D G Kelts; D Ney; C Bay; J M Saudubray; William Nyhan
Studies on requirements for amino acids in infants with disorders of amino acid metabolism. I. Effect of alanine.
Pediatric research 1985;19(1):86-91.
1985: D Ney; C Bay; J M Saudubray; D G Kelts; S Kulovich; L Sweetman; William Nyhan
An evaluation of protein requirements in methylmalonic acidaemia.
Journal of inherited metabolic disease 1985;8(3):132-42.
1985: J A Wolff; L Sweetman; William Nyhan
The role of lipid in the management of methylmalonic acidaemia: administration of linoleic acid does not increase excretion of methylmalonic acid.
Journal of inherited metabolic disease 1985;8(3):100.
1985: K M Gibson; L Sweetman; William Nyhan; I Jansen
Demonstration of 4-aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts.
Journal of inherited metabolic disease 1985;8(4):204-8.
1985: K M Gibson; L Sweetman; William Nyhan; P Bowen
Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria.
Journal of inherited metabolic disease 1985;8(2):58.
1985: L Sweetman; B J Burri; William Nyhan
Biotin holocarboxylase synthetase deficiency.
Annals of the New York Academy of Sciences 1985;447():288-96.
1985: William Nyhan
Clinical problems relating to biotin.
Annals of the New York Academy of Sciences 1985;447():222-4.
1984: C Jakobs; L Sweetman; William Nyhan; L Gruenke; J C Craig; S K Wadman
Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid.
Clinica chimica acta; international journal of clinical chemistry 1984;143(2):123-33.
1984: C Jakobs; L Dorland; L Sweetman; M Duran; William Nyhan; S K Wadman
Identification of methyl-branched chain dicarboxylic acids in amniotic fluid and urine in propionic and methylmalonic acidemia.
Pediatric research 1984;18(11):1185-91.
1984: A Barbeau; M Roy; L Cunha; A N de Vincente; Roger Rosenberg; William Nyhan; P L MacLeod; G Chazot; L B Langston; D M Dawson
The natural history of Machado-Joseph disease. An analysis of 138 personally examined cases.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1984;11(4 Suppl):510-25.
1984: K M Gibson; L Sweetman; William Nyhan; D Rating
Succinic semialdehyde dehydrogenase deficiency.
Journal of neurogenetics 1984;1(3):213-8.
1984: K M Gibson; L Sweetman; William Nyhan; G Lenoir; P Divry
Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria.
European journal of pediatrics 1984;142(4):257-9.
1984: C Jakobs; T G Warner; L Sweetman; William Nyhan
Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia.
Pediatric research 1984;18(8):714-8.
1984: C Jakobs; L Sweetman; William Nyhan
Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid.
Clinica chimica acta; international journal of clinical chemistry 1984;140(2):157-66.
1984: O Sovik; L Sweetman; K M Gibson; William Nyhan
Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts.
American journal of human genetics 1984;36(4):791-801.
1984: C Jakobs; L Sweetman; William Nyhan
Chemical analysis of succinylacetone and 4-hydroxyphenyllactate in amniotic fluid using selective ion monitoring.
Prenatal diagnosis 1984;4(3):187-94.
1984: Carol L Greene; H M Cann; B H Robinson; K M Gibson; L Sweetman; J Holm; William Nyhan
3-Hydroxy-3-methylglutaric aciduria.
Journal of neurogenetics 1984;1(2):165-73.
1984: T G Warner; A K Mock; William Nyhan; J S O'Brien
Alpha-mannosidosis: analysis of urinary oligosaccharides with high performance liquid chromatography and diagnosis of a case with unusually mild presentation.
Clinical genetics 1984;25(3):248-55.
1984: T Page; B Bakay; William Nyhan
Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase in intact cells.
Advances in experimental medicine and biology 1984;165 Pt B():27-31.
1984: T Page; B Bakay; William Nyhan
Human GMP synthetase.
The International journal of biochemistry 1984;16(1):117-20.
1984: C Jakobs; L Sweetman; S K Wadman; M Duran; J M Saudubray; William Nyhan
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid.
European journal of pediatrics 1984;141(3):153-7.
1984: Alice L Yu; S Matsumoto; L Bleeker; A Alvarez; B Bakay; William Nyhan; Faith H Kung
Biochemical basis for the differential effects of deoxycoformycin on human leukemias.
Advances in experimental medicine and biology 1984;165 Pt B():305-8.
1984: Luis Hernández-Nieto; M L Brito Barroso; William Nyhan
[Megaloblastic anemia in Lesch-Nyhan disease].
Sangre 1984;29(4-A):476-8.
1984: R M Smejkal; T T Page; V L Boyd; William Nyhan; S J Jacobsen; J H Mangum; R K Robins
Novel nucleoside inhibitors of guanosine metabolism as antitumor agents.
Advances in enzyme regulation 1984;22():59-68.
1984: K M Gibson; I Jansen; L Sweetman; William Nyhan; D Rating; C Jakobs; P Divry
4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance.
Journal of inherited metabolic disease 1984;7 Suppl 1():95-6.
1984: C Jakobs; L Sweetman; William Nyhan; S Packman
Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.
Journal of inherited metabolic disease 1984;7(1):15-20.
1983: K Hayasaka; K Tada; G Kikuchi; S Winter; William Nyhan
Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system.
Pediatric research 1983;17(12):967-70.
1983: D Ney; C Bay; J A Schneider; D Kelts; William Nyhan
Dietary management of oculocutaneous tyrosinemia in an 11-year-old child.
American journal of diseases of children (1960) 1983;137(10):995-1000.
1983: K M Gibson; L Sweetman; William Nyhan; C Jakobs; D Rating; H Siemes; F Hanefeld
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism.
Clinica chimica acta; international journal of clinical chemistry 1983;133(1):33-42.
1983: L K Robinson; K L Jones; F Culler; William Nyhan; N Sakati; K L Jones
The Börjeson-Forssman-Lehmann syndrome.
American journal of medical genetics 1983;15(3):457-68.
1983: Robert L Nussbaum; W E Crowder; William Nyhan; C T Caskey
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.
Proceedings of the National Academy of Sciences of the United States of America 1983;80(13):4035-9.
1983: K Mueller; William Nyhan
Clonidine potentiates drug induced self-injurious behavior in rats.
Pharmacology, biochemistry, and behavior 1983;18(6):891-4.
1983: N O Sakati; William Nyhan
Congenital cutis laxa and osteoporosis.
American journal of diseases of children (1960) 1983;137(5):452-4.
1983: M T Lartigau; A Martínez; B Bakay; T Page; William Nyhan
[Lesch-Nyhan disease studied in intact fibroblasts].
Anales españoles de pediatría 1983;18(5):394-8.
1983: William Nyhan
Promising directions in pediatric research.
Advances in pediatrics 1983;30():1-12.
1983: William Nyhan
Cytogenetic diseases.
Clinical symposia (Summit, N.J. : 1957) 1983;35(1):1-32.
1982: K M Gibson; L Sweetman; William Nyhan; T M Page; Carol L Greene; H M Cann
3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl-coa lyase using high performance liquid chromatography.
Clinica chimica acta; international journal of clinical chemistry 1982;126(2):171-81.