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Epidemiology and treatment of mitochondrial disorders.
Chinnery PF, Turnbull DM. Chinnery PF, et al. Among authors: turnbull dm. Am J Med Genet. 2001 Spring;106(1):94-101. doi: 10.1002/ajmg.1426. Am J Med Genet. 2001. PMID: 11579428 Review.
The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation.
Bhuiyan AK, Jackson S, Turnbull DM, Aynsley-Green A, Leonard JV, Bartlett K. Bhuiyan AK, et al. Among authors: turnbull dm. Clin Chim Acta. 1992 May 15;207(3):185-204. doi: 10.1016/0009-8981(92)90118-a. Clin Chim Acta. 1992. PMID: 1327583
Combined enzyme defect of mitochondrial fatty acid oxidation.
Jackson S, Kler RS, Bartlett K, Briggs H, Bindoff LA, Pourfarzam M, Gardner-Medwin D, Turnbull DM. Jackson S, et al. Among authors: turnbull dm. J Clin Invest. 1992 Oct;90(4):1219-25. doi: 10.1172/JCI115983. J Clin Invest. 1992. PMID: 1401059 Free PMC article.
The measurement of mitochondrial beta-oxidation by release of 3H2O from [9,10-3H]hexadecanoate: application to skeletal muscle and the use of inhibitors as models of metabolic disease.
Kler RS, Sherratt HS, Turnbull DM. Kler RS, et al. Among authors: turnbull dm. Biochem Med Metab Biol. 1992 Apr;47(2):145-56. doi: 10.1016/0885-4505(92)90018-t. Biochem Med Metab Biol. 1992. PMID: 1515172
Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.
Bindoff LA, Desnuelle C, Birch-Machin MA, Pellissier JF, Serratrice G, Dravet C, Bureau M, Howell N, Turnbull DM. Bindoff LA, et al. Among authors: turnbull dm. J Neurol Sci. 1991 Mar;102(1):17-24. doi: 10.1016/0022-510x(91)90088-o. J Neurol Sci. 1991. PMID: 1649912 Review.
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
Kler RS, Jackson S, Bartlett K, Bindoff LA, Eaton S, Pourfarzam M, Frerman FE, Goodman SI, Watmough NJ, Turnbull DM. Kler RS, et al. Among authors: turnbull dm. J Biol Chem. 1991 Dec 5;266(34):22932-8. J Biol Chem. 1991. PMID: 1744086
Deficiency of the pyruvate dehydrogenase complex and of mitochondrial fatty acid oxidation.
Bindoff LA, Birch-Machin MA, Jackson S, Singh Kler R, Bartlett K, Turnbull DM. Bindoff LA, et al. Among authors: turnbull dm. Rev Neurol (Paris). 1991;147(6-7):526-31. Rev Neurol (Paris). 1991. PMID: 1962058 Review.
Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non-invasive diagnosis of mitochondrial myopathy.
Poulton J, Deadman ME, Turnbull DM, Lake B, Gardiner RM. Poulton J, et al. Among authors: turnbull dm. Clin Genet. 1991 Jan;39(1):33-8. doi: 10.1111/j.1399-0004.1991.tb02982.x. Clin Genet. 1991. PMID: 1997213
Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria.
Watmough NJ, Bindoff LA, Birch-Machin MA, Jackson S, Bartlett K, Ragan CI, Poulton J, Gardiner RM, Sherratt HS, Turnbull DM. Watmough NJ, et al. Among authors: turnbull dm. J Clin Invest. 1990 Jan;85(1):177-84. doi: 10.1172/JCI114409. J Clin Invest. 1990. PMID: 2153151 Free PMC article.
Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain.
Birch-Machin MA, Shepherd IM, Watmough NJ, Sherratt HS, Bartlett K, Darley-Usmar VM, Milligan DW, Welch RJ, Aynsley-Green A, Turnbull DM. Birch-Machin MA, et al. Among authors: turnbull dm. Pediatr Res. 1989 May;25(5):553-9. doi: 10.1203/00006450-198905000-00025. Pediatr Res. 1989. PMID: 2541396
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