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A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiency

✍ Scribed by K. E. Niezen-Koning; F. J. Spronsen; L. Ijlst; R. J. A. Wanders; M. Brivet; M. Duran; D. J. Reijngoud; H. S. A. Heymans; G. P. A. Smit


Book ID
104900243
Publisher
Springer
Year
1995
Tongue
English
Weight
149 KB
Volume
18
Category
Article
ISSN
0141-8955

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Molecular and functional analysis of SLC
✍ Vito Iacobazzi; Federica Invernizzi; Silvia Baratta; Roser Pons; Wendy Chung; Ba 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 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