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Please use this identifier to cite or link to this item: http://repo.knmu.edu.ua/handle/123456789/7626

Название: A child with combined chromosomal abnormalities, mitochondrial dysfunction and metabolic cobalamin disorder
Авторы: Kvitchataya, Nataliya Nikolaevna
Grechanina, Yuliya Borisovna
Yanovska, Anna Alekseevna
Ключевые слова: chromosomal abnormalities
mitochondrial dysfunction
Issue Date: 2014
Библиографическое описание: 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.
Аннотация: mitochondrial dysfunction manifestes with multiorganic disorders mainly affecting the central nervous system, heart, liver and muscles.
Описание: 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.
URI: http://repo.knmu.edu.ua/handle/123456789/7626
Appears in Collections:Наукові праці. Кафедра медичної генетики

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