Please use this identifier to cite or link to this item: http://repo.knmu.edu.ua/handle/123456789/7625
Title: An early manifestation of LBSL (leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation) syndrom, case description
Authors: Grechanina, Elena Yakovlevna
Zdubskaya, Elena Petrivna
Keywords: leukoencephalopathy
LBSL
lactate elevation
chromosome 1
Issue Date: 2014
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.
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.
URI: http://repo.knmu.edu.ua/handle/123456789/7625
Appears in Collections:Наукові праці. Кафедра медичної генетики

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