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8 Cards in this Set

  • Front
  • Back
Fabry's dz
alpha galactosidease A
accumulation of ceramide trihexoside
x linked
Krabbe's dz
galactosylceramide B galactosidase
accumationf of galactocerebroside
Gaucher's dz
b glucocerebrosidase
accumulation of glucocerebroside
Niemann Pick dz
sphingomyelinase
accumulation of sphingomyelin
Tay Sachs dz
hexosaminidase A
accumulation of GM2 ganglioside
Metachromatic leukodystrophy
arylsulfatase A
accumulation of sulfatide
Hurler's syndrome
alpha-L-iduronidase
corneal clouding
hunter's
iduronate sulfatase
x-linked
(no corneal clouding)