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Results: 1-18 |
Results: 18
Self-injurious behavior: Gene-brain-behavior relationships
Authors: Schroeder, SR Oster-Granite, ML Berkson, G Bodfish, JW Breese, GR Cataldo, MF Cook, EH Crnic, LS DeLeon, I Fisher, W Harris, JC Horner, RH Iwata, B Jinnah, HA King, BH Lauder, JM Lewis, MH Newell, K Nyhan, WL Rojahn, J Sackett, GP Sandman, C Symons, F Tessel, RE Thompson, T Wong, DF
Citation: Sr. Schroeder et al., Self-injurious behavior: Gene-brain-behavior relationships, MENT RET D, 7(1), 2001, pp. 3-12
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency
Authors: Holzinger, A Roschinger, W Lagler, F Mayerhofer, PU Lichtner, P Kattenfeld, T Thuy, L Nyhan, WL Koch, HG Muntau, AC Roscher, AA
Citation: A. Holzinger et al., Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency, HUM MOL GEN, 10(12), 2001, pp. 1299-1306
Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation
Authors: Marsden, D Nyhan, WL Barshop, BA
Citation: D. Marsden et al., Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation, EUR J PED, 160(10), 2001, pp. 599-602
Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate
Authors: Spruijt, L Naviaux, RK McGowan, KA Nyhan, WL Sheean, G Haas, RH Barshop, BA
Citation: L. Spruijt et al., Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate, MUSCLE NERV, 24(7), 2001, pp. 916-924
SHORT REPORT: Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency
Authors: Barshop, BA Nyhan, WL Climent, C Rubio, V
Citation: Ba. Barshop et al., SHORT REPORT: Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency, J INH MET D, 24(4), 2001, pp. 513-514
Medium-chain acyl coenzyme a dehydrogenase deficiency - Occurrence in an infant and his father
Authors: Bodman, M Smith, D Nyhan, WL Naviaux, RK
Citation: M. Bodman et al., Medium-chain acyl coenzyme a dehydrogenase deficiency - Occurrence in an infant and his father, ARCH NEUROL, 58(5), 2001, pp. 811-814
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases
Authors: Jinnah, HA De Gregorio, L Harris, JC Nyhan, WL O'Neill, JP
Citation: Ha. Jinnah et al., The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases, MUT RES-R M, 463(3), 2000, pp. 309-326
An unexpected affected female patient in a classical Lesch-Nyhan family
Authors: De Gregorio, L Nyhan, WL Serafin, E Chamoles, NA
Citation: L. De Gregorio et al., An unexpected affected female patient in a classical Lesch-Nyhan family, MOL GEN MET, 69(3), 2000, pp. 263-268
Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria
Authors: Barshop, BA Nyhan, WL Naviaux, RK McGowan, KA Friedlander, M Haas, RH
Citation: Ba. Barshop et al., Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria, MOL GEN MET, 69(1), 2000, pp. 64-68
Dopamine function in Lesch-Nyhan disease
Authors: Nyhan, WL
Citation: Wl. Nyhan, Dopamine function in Lesch-Nyhan disease, ENVIR H PER, 108, 2000, pp. 409-411
Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria
Authors: Nyhan, WL Zschocke, J Hoffmann, G Stein, DE Bao, LM Goodman, S
Citation: Wl. Nyhan et al., Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria, MOL GEN MET, 66(3), 1999, pp. 199-204
Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome
Authors: Naviaux, RK Nyhan, WL Barshop, BA Poulton, J Markusic, D Karpinski, NC Haas, RH
Citation: Rk. Naviaux et al., Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome, ANN NEUROL, 45(1), 1999, pp. 54-58
D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?
Authors: van der Knaap, MS Jakobs, C Hoffmann, GF Nyhan, WL Renier, WO Smeitink, JAM Catsman-Berrevoets, CE Hjalmarson, O Vallance, H Sugita, K Bowe, CM Herrin, JT Craigen, WJ Buist, NRM Brookfield, DSK Chalmers, RA
Citation: Ms. Van Der Knaap et al., D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?, ANN NEUROL, 45(1), 1999, pp. 111-119
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency
Authors: Thuy, LP Belmont, J Nyhan, WL
Citation: Lp. Thuy et al., Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency, PRENAT DIAG, 19(2), 1999, pp. 108-112
4-aminobutyrate aminotransferase (GABA-transaminase) deficiency
Authors: Medina-Kauwe, LK Tobin, AJ De Meirleir, L Jaeken, J Jakobs, C Nyhan, WL Gibson, KM
Citation: Lk. Medina-kauwe et al., 4-aminobutyrate aminotransferase (GABA-transaminase) deficiency, J INH MET D, 22(4), 1999, pp. 414-427
Sensitive assay for mitochondrial DNA polymerase gamma
Authors: Naviaux, RK Markusic, D Barshop, BA Nyhan, WL Haas, RH
Citation: Rk. Naviaux et al., Sensitive assay for mitochondrial DNA polymerase gamma, CLIN CHEM, 45(10), 1999, pp. 1725-1733
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment
Authors: Thuy, L Jurecki, E Nemzer, L Nyhan, WL
Citation: L. Thuy et al., Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment, CLIN CHIM A, 284(1), 1999, pp. 59-68
Neurologic nonmetabolic presentation of propionic acidemia
Authors: Nyhan, WL Bay, C Beyer, EW Mazi, M
Citation: Wl. Nyhan et al., Neurologic nonmetabolic presentation of propionic acidemia, ARCH NEUROL, 56(9), 1999, pp. 1143-1147
Risultati: 1-18 |