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갈락토세레브로시다아제 유전자 분석으로 확진된 크라베(Krabbe)병 1예
남경식,류상효,성영희,오미선,정헤원,이병철,이기형,민기식,한성희,기창석,김종원 대한신경과학회 2004 대한신경과학회지 Vol.22 No.2
Krabbe disease is an autosomal recessive disorder involving white matter caused by deficient activity of the lysosomal galactocerebrosidase (GALC). A typical infantile-onset patient shows developmental regression, spasticity, and seizure before 6 months of age, and dies within 2 years. Previously, one case was confirmed by an enzyme test in Korea. We herein report a 2 year-old girl who showed the characteristic clinical course and neuroimaging features of infantile-onset Krabbe disease. Genetic testing identified the compound heterozygote mutations in the GALC gene; NLWE212_ 215TP/302A.