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Results: 1-9 |
Results: 9
Mitochondrial tubulopathy: the many faces of mitochondrial disorders
Authors: Lee, YS Yap, HK Barshop, BA Lee, YS Rajalingam, S Loke, KY
Citation: Ys. Lee et al., Mitochondrial tubulopathy: the many faces of mitochondrial disorders, PED NEPHROL, 16(9), 2001, pp. 710-712
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
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
Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation
Authors: Graf, WD Marin-Garcia, J Gao, HG Pizzo, S Naviaux, RK Markusic, D Barshop, BA Courchesne, E Haas, RH
Citation: Wd. Graf et al., Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation, J CHILD NEU, 15(6), 2000, pp. 357-361
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
Malonic aciduria in Maltese dogs: Normal methylmalonic acid concentrationsand malonyl-CoA decarboxylase activity in fibroblasts
Authors: O'Brien, DP Barshop, BA Faunt, KK Johnson, GC Gibson, KM Shelton, GD
Citation: Dp. O'Brien et al., Malonic aciduria in Maltese dogs: Normal methylmalonic acid concentrationsand malonyl-CoA decarboxylase activity in fibroblasts, J INH MET D, 22(8), 1999, pp. 883-890
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
Risultati: 1-9 |