. . . . . . . . . . . . "[After the introduction of 4-methylumbelliferyl-2-acetamido-2-deoxy-beta A-D-glucopyranoside (4MUG) and its sulfated form (4MUGS) in the pre- and postnatal diagnosis and carrier identification of gangliosidosis genotypes, infrequent forms of the GM2 gangliosidosis Type B (Tay-Sachs disease) have been observed which show normal activity of Hexosaminidase A (Hex A) isoenzyme with the substrate 4MUG but absent or deficient activity against the sulfated form 4MUGS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:51:54+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .