PMID: 9544911Apr 17, 1998Paper

A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype

The Journal of Pediatrics
A A MorrisJ 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.

Citations

Feb 11, 2004·Prostaglandins, Leukotrienes, and Essential Fatty Acids·Simon Edward Olpin
Jul 6, 2000·Clinica Chimica Acta; International Journal of Clinical Chemistry·W RöschingerA A Roscher
Aug 2, 2003·Fungal Genetics and Biology : FG & B·Patricia PérezJ Ramón De Lucas
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Aug 12, 2009·Biochemical and Biophysical Research Communications·Vito IacobazziFerdinando Palmieri
May 11, 2000·Seminars in Perinatology·P T Ozand
Apr 17, 1998·The Journal of Pediatrics·C A Stanley
Oct 25, 2011·Molecular Aspects of Medicine·Cesare IndiveriFerdinando Palmieri
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Sep 11, 2019·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Mohammed AlmannaiAyman W El-Hattab
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