title: GM2-gangliosidosis variant with altered substrate specificity: evidence for alpha-locus genetic compound.
authors.affiliation: Department of Pathology, Royal Hospital for Sick Children, Edinburgh, UK.
authors.forename: G T
authors.initials: GT
authors.lastname: Besley
authors.forename: D M
authors.initials: DM
authors.lastname: Broadhead
authors.forename: J A
authors.initials: JA
authors.lastname: Young
mesh_terms: D006801:Humans; D006923:Hymecromone / Q000031:analogs & derivatives; D007223:Infant; D008297:Male; D013379:Substrate Specificity; D013661:Tay-Sachs Disease / Q000201:enzymology* / Q000235:genetics; D001619:beta-N-Acetylhexosaminidases / Q000097:blood / Q000235:genetics / Q000378:metabolism*
chemical_list: D006923:Hymecromone; C043647:4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-glucopyranoside; D001619:beta-N-Acetylhexosaminidases