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