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22 Cards in this Set

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Deficiency in alpha-galactosidase A

Fabry Disease

Fabry Disease enzyme deficiency
alpha-galactosidase A
Disease with accumulated substrate ceramide
Farber Disease
enzyme deficiency in Gaucher's disease
beta-glucocerebrosidase
beta-glucocerebrosidase deficiency
Gaucher's disease
Disease with accumulation of Glucocerebroside
Gaucher's disease
Enzyme defiency in Niemann-Pick Disease
Sphingomyelinase
Disease with sphingomyelinase deficiency
Niemann-Pick disease
Disease with accumulation of sphingomyelin
Niemann-Pick disease
Tay Sachs disease enzyme deficiency
beta-Hexosaminidase A
Tay Sach's disease
accumulation
GM2 gangliosides
Disease with beta-galactosidase deficiency
GM1 gangliosidosis
Krabbe disease enzyme deficiency
galactocerebrosidase
Krabbe disease accumulation
galactocerebroside
Metachromatic Leukodystrophy
enzyme defiency
arylsulfatase A
Disease with defiency in arylsulfatase A
Metachromatic Leukodystrophy
Metachromatic Leukodystrophy results in accumulation of
sulfatides
Sandhoff Disease enzyme deficiency
beta-hexosaminidase A and B
Sandhoff Disease results in accumulation of
GM2 gangliosides, globosides
GM1 gangliosidosis results in accumulation of
GM1 gangliosides and keratan sulfate
Fabry disease results in accumulation of
globosides
Farber disease enzyme deficiency
ceraminidase