2
Case2: Female, Birth diagnosis, 0.8 yr onset
HPOsFreeText: 258 CK U/l, Deficient GAA activity (nmol/h/mg)^h from cultured fibroblasts
NotHPOsFreeText: No wheelchair used, no respiratory support
2
Case2: Female, Birth diagnosis, 0.8 yr onset
HPOsFreeText: 258 CK U/l, Deficient GAA activity (nmol/h/mg)^h from cultured fibroblasts
NotHPOsFreeText: No wheelchair used, no respiratory support