Title : Generalized accumulation of neutral glycosphingolipids with G M2 ganglioside accumulation in the brain.

Pub. Date : 1972 Jan

PMID : 5059190






1 Functional Relationships(s)
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1 On the basis of these findings along with the clinical manifestations of Tay-Sachs disease with visceral involvement (hepatosplenomegaly) and demonstration of total deficiency of both A and B components of beta-N-acetylhexosaminidase activity, this glycosphingolipidosis is the same as two previously reported cases of G(M2) gangliosidosis with globoside accumulation and total beta-N-acetylhexosaminidase deficiency. Globosides O-GlcNAcase Homo sapiens