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Muscle biochemistry in thiamin‐responsive anaemia

1997; Springer Science+Business Media; Volume: 20; Issue: 3 Linguagem: Inglês

10.1023/a

1573-2665

Timothy Barrett, Kelvin Poulton, Malcolm G. Baines, C McCowen,

Mitochondrial Function and Pathology

Journal of Inherited Metabolic DiseaseVolume 20, Issue 3 p. 404-406 Article Muscle biochemistry in thiamin-responsive anaemia T. G. Barrett, T. G. Barrett Department of Clinical Genetics, Birmingham Womens' Hospital NHS Trust, Birmingham, UKSearch for more papers by this authorK. Poulton, K. Poulton Department of Neuropathology, The Medical School, University of Birmingham, UKSearch for more papers by this authorM. Baines, M. Baines Department of Clinical Chemistry, Royal Liverpool and Broadgreen University Hospitals NHS Trust, Liverpool, UKSearch for more papers by this authorC. McCowen, C. McCowen Department of Paediatrics, North Tees General Hospital, Hardwick, Stockton on Tees, Cleveland, UKSearch for more papers by this author T. G. Barrett, T. G. Barrett Department of Clinical Genetics, Birmingham Womens' Hospital NHS Trust, Birmingham, UKSearch for more papers by this authorK. Poulton, K. Poulton Department of Neuropathology, The Medical School, University of Birmingham, UKSearch for more papers by this authorM. Baines, M. Baines Department of Clinical Chemistry, Royal Liverpool and Broadgreen University Hospitals NHS Trust, Liverpool, UKSearch for more papers by this authorC. McCowen, C. McCowen Department of Paediatrics, North Tees General Hospital, Hardwick, Stockton on Tees, Cleveland, UKSearch for more papers by this author First published: 01 July 1997 https://doi.org/10.1023/A:1005302717117Citations: 9AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES 1Gohil K, Jones DA, Edwards RHT (1981) Analysis of mitochondrial function with techniques applicable to needle muscle biopsy samples. Clin Physiol, 1: 195–207. 2Haworth C, Evans DI, Mitra J, Wickramasinghe SN (1982) Thiamin responsive anaemia: a study of two further cases. Br Haematol, 50: 549–561. 3Kohlschutter A, Behbehani A, Langenbeck U et al (1982) A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria. Eur J Paediatr, 138: 32–37. 4Rindi G, Patrini C, Laforenza U et al (1994) Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia. J Inher Metab Dis, 17: 667–677. 5Rogers LE, Porter FS, Sidbury JB (1969) Thiamine-responsive megaloblastic anemia. J Pediatr, 74: 494–504. 6Scholte HR, Busch FM, Luyt-Houwen MHM et al (1987) Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of lesions in other cells. J Inher Metab Dis, 10 (supplement1): 81–97. 7Stumpf DA, Parkes JK (1978) Friedrich's ataxia: I. Normal pyruvate dehydrogenase complex activity in platelets. Ann Neurol, 4 (4): 366–368. 8Zheng X, Shoffner JM, Voljavec AS, Wallace DC (1990) Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies. Biochim Biophys Acta, 1019: 1–10. Citing Literature Volume20, Issue3July 1997Pages 404-406 ReferencesRelatedInformation