Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant
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چکیده
منابع مشابه
Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.
A high prevalence of the sequence variant c.1436C→T in the CPT1A gene has been identified among Alaska Native newborns but the clinical implications of this variant are unknown. We conducted medically supervised fasts in 5 children homozygous for the c.1436C→T variant. Plasma free fatty acids increased normally in these children but their long-chain acylcarnitine and ketone production was signi...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2011
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2011.06.017