Hexosaminidase A deficiency presenting as juvenile progressive dystonia.
Hardie
R J
RJ
Young
E P
EP
Morgan-Hughes
J A
JA
D000293:Adolescent; D004421:Dystonia / Q000235:genetics*; D005260:Female; D054818:Hexosaminidase A; D006801:Humans; D013661:Tay-Sachs Disease / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency*
D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases