Carnitine-acylcarnitine translocase deficiency: case report and review of the literature
Author:
Publisher
Wiley
Subject
General Medicine,Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.2003.tb00586.x/fullpdf
Reference20 articles.
1. Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane;Stanley;N Engl J Med,1992
2. Functional analysis of mutant human carnitine acylcarnitine translocases in yeast;Ijist;Biochem Biophys Res Commun,2001
3. Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient;Huizing;Am J Hum Genet,1997
4. A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency;Niezen-Koning;J Inherit Metab Dis,1995
5. Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment;Parini;J Inherit Metab Dis,1999
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