A child with combined chromosomal abnormalities, mitochondrial dysfunction and metabolic cobalamin disorder

Abstract

mitochondrial dysfunction manifestes with multiorganic disorders mainly affecting the central nervous system, heart, liver and muscles.

Description

observation demonstrates the combination of chromosome pathology with metabolic disorders, it is necessary to investigate chromosomal aberrations of metabolic status for the selection of adequate therapy.

Citation

Kvitchataya N. N. A child with combined chromosomal abnormalities, mitochondrial dysfunction and metabolic cobalamin disorder / N. N. Kvitchataya, Y. B. Grechanina, A. A. Yanovska // Journal of Inherited Metabolic Disease. — 2014. — Vol. 37, suppl. 1 : Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2–5 September, 2014 : abstracts. — P. 184.

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