GM2-gangliosidosis variant with altered substrate specificity: evidence for alpha-locus genetic compound.
Besley
G T
GT
Department of Pathology, Royal Hospital for Sick Children, Edinburgh, UK.
Broadhead
D M
DM
Young
J A
JA
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*
D006923:Hymecromone; C043647:4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-glucopyranoside; D001619:beta-N-Acetylhexosaminidases