Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase...
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency
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Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Language
English
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Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Contents
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 β‐oxidation which manifests in early infancy with hypoketotic hypoglycemia, cardiomyopathy, liver failure, and muscle weakness. We report here...
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Full title
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency
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TN_cdi_proquest_miscellaneous_66872416
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_66872416
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ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/humu.20085
