Fumaric aciduria case

Please use this identifier to cite or link to this item: http://repo.knmu.edu.ua/handle/123456789/7623

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DC Field	Value	Language
dc.contributor.author	Kanuka, M.	-
dc.contributor.author	Yanovska, A.	-
dc.contributor.author	Grechanina, Juliya	-
dc.contributor.author	Zdubskaya E.	-
dc.date.accessioned	2014-11-17T08:39:33Z	-
dc.date.available	2014-11-17T08:39:33Z	-
dc.date.issued	2014	-
dc.identifier.citation	Fumaric aciduria case / M. V. Kanuka, A. A. Yanovska, Y. B. Grechanina, E. P. Zdubskaya // 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. 112.	uk_UA
dc.identifier.uri	https://repo.knmu.edu.ua/handle/123456789/7623	-
dc.description	Acute deterioration of the child after birth with the development of hypotension, cerebral depression, it is necessary to carry out test to exclude congenital defect of metabolism, including mitochondrial dysfunction.	uk_UA
dc.description.abstract	Fumaric aciduria refers to a mitochondrial disorder, due to lack of fumarase activity, and manifesting as progressive encephalopathy, hypotension, dyspnea, seizures and lactic acidosis.	uk_UA
dc.language.iso	en	uk_UA
dc.subject	fumaric aciduria	uk_UA
dc.subject	metabolism	uk_UA
dc.subject	mitochondrial dysfunction	uk_UA
dc.subject	hiperammonemia	uk_UA
dc.title	Fumaric aciduria case	uk_UA
dc.type	Thesis	uk_UA
Appears in Collections:	Наукові праці. Кафедра медичної генетики

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