Carnitine‐acylcarnitine translocase deficiency ‐ a mild phenotype
- 1 September 1997
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 20 (5) , 714-715
- https://doi.org/10.1023/a:1005343013873
Abstract
No abstract availableKeywords
This publication has 2 references indexed in Scilit:
- Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.Journal of Clinical Investigation, 1993
- A comparison of [9,10‐3H]palmitic and [9,10‐3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblastsJournal of Inherited Metabolic Disease, 1989