dc.contributor.author	Grechanina, Elena
dc.contributor.author	Zdubskaya, Elena
dc.date.accessioned	2014-11-17T08:48:57Z
dc.date.available	2014-11-17T08:48:57Z
dc.date.issued	2014
dc.description.abstract	As a rule, the disease manifests in the age of 3-15 years. Cerebellar ataxia, spastic tetraparesis and cognitive impairment develop. Before the onset of the disease, psychomotor and speech development corresponds to age, movement disorders develop further, patients become disabled by the second to fourth decade of life. In our case, the disease manifested in the heterozygous carrier by one year of life and was accompanied by obesity.	uk_UA
dc.identifier.citation	Grechanina E. Y. An early manifestation of LBSL (leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation) syndrom, case description / E. Y. 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. 114.	uk_UA
dc.identifier.uri	https://repo.knmu.edu.ua/handle/123456789/7625
dc.language.iso	en	uk_UA
dc.subject	leukoencephalopathy	uk_UA
dc.subject	LBSL	uk_UA
dc.subject	lactate elevation	uk_UA
dc.subject	chromosome 1	uk_UA
dc.title	An early manifestation of LBSL (leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation) syndrom, case description	uk_UA
dc.type	Thesis	uk_UA

An early manifestation of LBSL (leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation) syndrom, case description

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