Charrow, J

Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity. [electronic resource] - Clinical genetics Jan 1985 - 78-84 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0009-9163

10.1111/j.1399-0004.1985.tb00188.x doi


Acetylglucosamine--analogs & derivatives
Alleles
Child, Preschool
Female
Glucosamine--analogs & derivatives
Heterozygote
Hexosaminidase A
Hexosaminidases--genetics
Humans
Hymecromone--analogs & derivatives
Mutation
Pedigree
Substrate Specificity
Tay-Sachs Disease--enzymology
beta-N-Acetylhexosaminidases