Muscle biochemistry in thiamin-responsive anaemia
- 1 July 1997
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 20 (3) , 404-406
- https://doi.org/10.1023/a:1005302717117
Abstract
No abstract availableThis publication has 8 references indexed in Scilit:
- Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin‐responsive megaloblastic anaemiaJournal of Inherited Metabolic Disease, 1994
- Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsiesBiochimica et Biophysica Acta (BBA) - Bioenergetics, 1990
- Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cellsJournal of Inherited Metabolic Disease, 1987
- Thiamine responsive anaemia: a study of two further casesBritish Journal of Haematology, 1982
- A familial progressive neurodegenerative disease with 2-oxoglutaric aciduriaEuropean Journal of Pediatrics, 1982
- Analysis of muscle mitochondrial function with techniques applicable to needle biopsy samplesClinical Physiology and Functional Imaging, 1981
- Friedreich'S Ataxia: I. Normal pyruvate dehydrogenase complex activity in plateletsAnnals of Neurology, 1978
- Thiamine-responsive megaloblastic anemiaThe Journal of Pediatrics, 1969