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Carnitine‐acylcarnitine translocase deficiency ‐ a mild phenotype

S. E. Olpin, James R. Bonham, M. Downing, N. J. Manning, R. J. Pollitt
DOI: 10.1023/a:1005343013873
Journal of Inherited Metabolic Disease

Data up to Jan 2025

Published1997
Citations37
References2
Fields
MedicinePediatricsFamily medicine

Total Citations Per Year

Abstract

References (2)

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 fibroblasts

1989 • 153 citations

Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.

1993 • 108 citations

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