| Literature DB >> 9544911 |
A A Morris1, S E Olpin, M Brivet, D M Turnbull, R A Jones, J V Leonard.
Abstract
Carnitine-acylcarnitine translocase deficiency, a rare beta-oxidation defect, is manifest in most cases by cardiomyopathy and death in early childhood. We report an affected patient, 3 years of age, who has had no serious complications. The residual enzyme activity in fibroblasts was higher than in previously reported patients, which may explain the benign clinical course.Entities:
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Year: 1998 PMID： 9544911 DOI： 10.1016/s0022-3476(98)70030-7
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406