Carnitine/Acylcarnitine Translocase Deficiency (Neonatal Phenotype): Successful Prenatal and Postmortem Diagnosis Associated with a Novel Mutation in a Single Family
- 31 May 2001
- journal article
- case report
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 73 (1) , 64-70
- https://doi.org/10.1006/mgme.2001.3162
Abstract
No abstract availableKeywords
This publication has 26 references indexed in Scilit:
- The Structure and Organization of the Human Carnitine/Acylcarnitine Translocase (CACT) GeneBiochemical and Biophysical Research Communications, 1998
- Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patientJournal of Inherited Metabolic Disease, 1998
- The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteinsBiochemical Journal, 1997
- Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridizationCytogenetic and Genome Research, 1997
- Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocaseThe Journal of Pediatrics, 1995
- A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiencyJournal of Inherited Metabolic Disease, 1995
- Carnitine-acylcarnitine translocase deficiency: implications in human pathologyBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1994
- Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysisJournal of Inherited Metabolic Disease, 1994
- A Deficiency of Carnitine–Acylcarnitine Translocase in the Inner Mitochondrial MembraneNew England Journal of Medicine, 1992
- A mitochondrial carnitine acylcarnitine translocase system.Proceedings of the National Academy of Sciences, 1975