A case of the B1 variant of GM2-gangliosidosis.
Gray
R G
RG
Department of Clinical Chemistry, Children's Hospital, Birmingham, UK.
Green
A
A
Rabb
L
L
Broadhead
D M
DM
Besley
G T
GT
D002675:Child, Preschool; D005260:Female; D014644:Genetic Variation; D006720:Homozygote; D006801:Humans; D013379:Substrate Specificity; D013431:Sulfates / Q000378:metabolism*; D013661:Tay-Sachs Disease / Q000201:enzymology* / Q000235:genetics; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency / Q000378:metabolism*
D013431:Sulfates; D001619:beta-N-Acetylhexosaminidases