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20 Cards in this Set
- Front
- Back
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Deficiency of alpha galactosidase A enzyme
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Fabry's disease
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Fabry's disease accumulates
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Ceramide trihexosidase
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Deficiency of Beta-glucocerebrosidase enzyme
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Gaucher's disease
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Gaucher's disease accumulates
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Glucocerebroside
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Deficiency of Sphingomyelinase enzyme
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Niemann-pick disease
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Niemann-Pick disease accumulates
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Sphingomyelin
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Deficiency of Hexoaminidase A enzyme
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Tay-Sachs disease
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Tay-Sachs disease accumulates
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GM2 ganglioside
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Deficiency of Beta-galactosidase enzyme
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Krabbe's disease
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Krabbe's disease accumulates
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Galactocerebroside
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Deficiency of Arylsulfatase A enzyme
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Metachromatic leukodystrophy
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Metachromatic leukodystrophy accumulates
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Cerebroside sulfate
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Deficiency of Alpha-L-iduronidase enzyme
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Hurler's syndrome
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Hurler's syndrome accumulates
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Heparan sulfate, dermatan sulfate
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Deficiency of iduronate sulfatase enzyme
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Hunter's syndrome
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Hunter's syndrome accumulates
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Heparan sulfate, dermatan sulfate
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Glucose-6-phosphatase deficiency
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Von Gierke's disease
Type I The liver becomes a muscle |
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Lysosomal alpha-1,4-glucosidase deficiency
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Pompe's disease
Type II Pompe's trashes the pump |
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debranching enzyme deficiency
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Cori's disease
Type III Deficiency of alpha-1,6-glucosidase |
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Skeletal muscle glycogen phosphorylase deficiency
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McArdle's disease
Type V |
