title: Tay-Sachs disease: case reports with emphasis on chromatographic study of rectal biopsy.
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.
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D002855:Chromatography, Thin Layer; D005260:Female; D005732:Gangliosides / Q000032:analysis*; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000175:diagnosis*; D008055:Lipids / Q000032:analysis* / Q000302:isolation & purification; D008297:Male; D012007:Rectum / Q000032:analysis*
chemical_list: D005732:Gangliosides; D008055:Lipids