Tay-Sachs disease: case reports with emphasis on chromatographic study of rectal biopsy.
作者信息
Rao J G, Rama V, Srinivas K, Valmikinathan K
出版信息
Dev Med Child Neurol. 1975 Apr;17(2):228-31. doi: 10.1111/j.1469-8749.1975.tb03475.x.
Abstract
Two South Indian Hindu children with typical clinical features compatible with Tay-Sachs disease are presented. The identification of GM2 as the major ganglioside in the lipid extract of rectal biopsy helped to confirm the clinical diagnosis.
摘要
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