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Carnitine-acylcarnitine translocase deficiency: case report and review of the literature

โœ Scribed by ME Rubio-Gozalbo; P Vos; PPh Forget; SB Van Der Meer; RJA Wanders; HR Waterham; JA Bakker


Book ID
114813621
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
58 KB
Volume
92
Category
Article
ISSN
0803-5253

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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