[Tay-Sachs disease: a report of 2 autopsy cases].
Tay-sachs disease (GM gangliosidosis), which is transmitted as autosomal recessive trait, is rare in China. Two cases of Tay-Sachs disease were diagnosed and treated in PUMC hospital during the past 7 years. The clinical features, blood hexosaminidase A level and autopsy findings are presented.
Cui
Q C
QC
Department of Pathology, PUMC Hospital, Beijing.
Zhou
C J
CJ
Liu
T H
TH
D001921:Brain / Q000648:ultrastructure; D002675:Child, Preschool; D054818:Hexosaminidase A; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D009474:Neurons / Q000648:ultrastructure; D013661:Tay-Sachs Disease / Q000097:blood / Q000473:pathology*; D001619:beta-N-Acetylhexosaminidases / Q000097:blood
D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases