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Carnitine-acylcarnitine translocase deficiency: Identification of a novel molecular defect in a Bedouin patient

โœ Scribed by D. Galron; O. S. Birk; A. Kazanovitz; S. W. Moses; E. Hershkovitz


Book ID
111574728
Publisher
Springer
Year
2004
Tongue
English
Weight
86 KB
Volume
27
Category
Article
ISSN
0141-8955

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Molecular and functional analysis of SLC
โœ Vito Iacobazzi; Federica Invernizzi; Silvia Baratta; Roser Pons; Wendy Chung; Ba ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 224 KB

The enzyme carnitine-acylcarnitine translocase (CACT) is involved in the transport of long-chain fatty acids into mitochondria. CACT deficiency is a life-threatening, recessively inherited disorder of lipid beta-oxidation which manifests in early infancy with hypoketotic hypoglycemia, cardiomyopathy