A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiency
- 1 March 1995
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 18 (2) , 230-232
- https://doi.org/10.1007/bf00711775
Abstract
No abstract availableThis publication has 7 references indexed in Scilit:
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- Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.Journal of Clinical Investigation, 1993
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- A Deficiency of Carnitine–Acylcarnitine Translocase in the Inner Mitochondrial MembraneNew England Journal of Medicine, 1992
- Fatty acid β-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patientsBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1992
- New Genetic Defects in Mitochondrial Fatty Acid Oxidation and Carnitine DeficiencyAdvances in Pediatrics, 1987