Fumaric aciduria case

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.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.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.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

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