A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiency
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Abstract
References (8)
A Deficiency of Carnitine–Acylcarnitine Translocase in the Inner Mitochondrial Membrane
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Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.
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