Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents
- 1 March 1996
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 19 (2) , 181-184
- https://doi.org/10.1007/bf01799424
Abstract
No abstract availableThis publication has 7 references indexed in Scilit:
- Disorders of mitochondrial long‐chain fatty acid oxidationJournal of Inherited Metabolic Disease, 1995
- Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiencyThe Journal of Pediatrics, 1993
- Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.Journal of Clinical Investigation, 1993
- A Deficiency of Carnitine–Acylcarnitine Translocase in the Inner Mitochondrial MembraneNew England Journal of Medicine, 1992
- Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.Journal of Clinical Investigation, 1991
- Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolismJournal of Inherited Metabolic Disease, 1990
- Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation.Journal of Clinical Investigation, 1989