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Tay-Sachs disease: case reports with emphasis on chromatographic study of rectal biopsy
Developmental Medicine and Child Neurology
|April 1, 1975
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.
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