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Results: 1-17 |
Results: 17
Mitochondrial diseases: Beyond the magic circle
Authors: Dahl, HHM Thorburn, DR
Citation: Hhm. Dahl et Dr. Thorburn, Mitochondrial diseases: Beyond the magic circle, AM J MED G, 106(1), 2001, pp. 1-3
Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
Authors: Thorburn, DR Dahl, HHM
Citation: Dr. Thorburn et Hhm. Dahl, Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options, AM J MED G, 106(1), 2001, pp. 102-114
Diagnosis of mitochondrial disorders: Clinical and biochemical approach
Authors: Thorburn, DR Smeitink, J
Citation: Dr. Thorburn et J. Smeitink, Diagnosis of mitochondrial disorders: Clinical and biochemical approach, J INH MET D, 24(2), 2001, pp. 312-316
Fatal portal hypertension, liver failure, and mitochondrial dysfunction after HIV-1 nucleoside analogue-induced hepatitis and lactic acidaemia
Authors: Carr, A Morey, A Mallon, P Williams, D Thorburn, DR
Citation: A. Carr et al., Fatal portal hypertension, liver failure, and mitochondrial dysfunction after HIV-1 nucleoside analogue-induced hepatitis and lactic acidaemia, LANCET, 357(9266), 2001, pp. 1412-1414
Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families
Authors: Kirby, DM Kahler, SG Freckmann, ML Reddihough, D Thorburn, DR
Citation: Dm. Kirby et al., Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families, ANN NEUROL, 48(1), 2000, pp. 102-104
Phe inheritance of mitochondrial DNA heteroplasmy: random drift, selectionor both?
Authors: Chinnery, PF Thorburn, DR Samuels, DC White, SL Dahl, HHM Turnbull, DM Lightowlers, RN Howell, N
Citation: Pf. Chinnery et al., Phe inheritance of mitochondrial DNA heteroplasmy: random drift, selectionor both?, TRENDS GEN, 16(11), 2000, pp. 500-505
Holocarboxylase synthetase deficiency: Urinary metabolites masked by grossketosis
Authors: Carpenter, KH Wilcken, B Christodoulou, J Thorburn, DR
Citation: Kh. Carpenter et al., Holocarboxylase synthetase deficiency: Urinary metabolites masked by grossketosis, J INH MET D, 23(8), 2000, pp. 845-846
Late diagnosis of maternal PKU in a family segregating an arylsulfatse E mutation causing symmetrical chondrodysplasia punctata
Authors: Dahl, HHM Osborn, AH Hutchison, WM Thorburn, DR Sheffield, LJ
Citation: Hhm. Dahl et al., Late diagnosis of maternal PKU in a family segregating an arylsulfatse E mutation causing symmetrical chondrodysplasia punctata, MOL GEN MET, 68(4), 1999, pp. 503-506
Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia
Authors: Delatycki, MB Camakaris, J Brooks, H Evans-Whipp, T Thorburn, DR Williamson, R Forrest, SM
Citation: Mb. Delatycki et al., Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia, ANN NEUROL, 45(5), 1999, pp. 673-675
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA
Authors: White, SL Shanske, S Biros, I Warwick, L Dahl, HM Thorburn, DR Di Mauro, S
Citation: Sl. White et al., Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA, PRENAT DIAG, 19(12), 1999, pp. 1165-1168
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation
Authors: White, SL Shanske, S McGill, JJ Mountain, H Geraghty, MT DiMauro, S Dahl, HHM Thorburn, DR
Citation: Sl. White et al., Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation, J INH MET D, 22(8), 1999, pp. 899-914
Respiratory chain complex I deficiency - An underdiagnosed energy generation disorder
Authors: Kirby, DM Crawford, M Cleary, MA Dahl, HHM Dennett, X Thorburn, DR
Citation: Dm. Kirby et al., Respiratory chain complex I deficiency - An underdiagnosed energy generation disorder, NEUROLOGY, 52(6), 1999, pp. 1255-1264
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy
Authors: Bruno, C Kirby, DM Koga, Y Garavaglia, B Duran, G Santorelli, FM Shield, LK Xia, WL Shanske, S Goldstein, JD Iwanaga, R Akita, Y Carrara, F Davis, A Zeviani, M Thorburn, DR DiMauro, S
Citation: C. Bruno et al., The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy, J PEDIAT, 135(2), 1999, pp. 197-202
Respiratory chain complex in deficiency with pruritus: A novel vitamin responsive clinical feature
Authors: Mowat, D Kirby, DM Kamath, KR Kan, A Thorburn, DR Christodoulou, J
Citation: D. Mowat et al., Respiratory chain complex in deficiency with pruritus: A novel vitamin responsive clinical feature, J PEDIAT, 134(3), 1999, pp. 352-354
The molecular basis of malonyl-CoA decarboxylase deficiency
Authors: FitzPatrick, DR Hill, A Tolmie, JL Thorburn, DR Christodoulou, L
Citation: Dr. Fitzpatrick et al., The molecular basis of malonyl-CoA decarboxylase deficiency, AM J HU GEN, 65(2), 1999, pp. 318-326
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993
Authors: White, SL Collins, VR Wolfe, R Cleary, MA Shanske, S DiMauro, S Dahl, HHM Thorburn, DR
Citation: Sl. White et al., Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993, AM J HU GEN, 65(2), 1999, pp. 474-482
A false-positive diagnosis for the common MELAS (A3243G) mutation caused by a novel variant (A3426G) in the ND1 gene of mitochondria DNA
Authors: Kirby, DM Milovac, T Thorburn, DR
Citation: Dm. Kirby et al., A false-positive diagnosis for the common MELAS (A3243G) mutation caused by a novel variant (A3426G) in the ND1 gene of mitochondria DNA, MOL DIAGN, 3(4), 1998, pp. 211-216
Risultati: 1-17 |