Very long-chain acyl-coenzyme A dehydrogenase deficiency

The paper describes a case of a baby with a severe infant form of very long-chain acyl-coenzyme A dehydrogenase deficiency, a very rare genetic disorder. The basis for the disease is a disorder of mitochondrial β-oxidation of long-chain fatty acids. Accumulation of acyl-CoA-derived fatty acids cause...

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Hlavní autoři: A. V. Degtyareva, I. V. Nikitina, I. V. Orlovskaya, E. Yu. Zakharova, G. V. Baidakova, O. V. Ionov, D. Yu. Amirkhanova, A. V. Levadnaya
Médium: Artigo
Jazyk:Russo
Vydáno: Ltd. “The National Academy of Pediatric Science and Innovation” 2016-03-01
Edice:Rossijskij Vestnik Perinatologii i Pediatrii
Témata:
babies
neonatal infants
mitochondrial β-oxidation
very long-chain acyl-coenzyme a dehydrogenase deficiency
arrhythmias
acylcarnitines
free carnitine
treatment
medium-chain triglycerides
On-line přístup:https://www.ped-perinatology.ru/jour/article/view/57
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