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12 Cards in this Set
- Front
- Back
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Von Gierke's (type I) |
Def. Glucose-6-phosphatase |
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Pompe disease (type II) |
Def lysosomal alpha-1,4-glucosidase (aka acid maltase) |
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Cori disease (type III) |
Def. debranching enzyme (alpha-1,6-glucosidase) |
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McArdle Disease (type IV) |
Def skeletal muscle glycogen phosphorylase (myophosphorylase) |
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Fabry disease |
Def. alpha-galactosidase A Accum of ceramid trihexoside |
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Gaucher disease |
Def. glucocerebrosidase (beta-glucosidase) Accum glucocerebroside |
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Niemann-Pick disease |
Def. Sphingomyelinase Accum sphingomeylin |
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Tay-Sachs |
Def. Hexosaminidase A Accum GM2 ganglioside |
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Krabbe disease |
Def. galactocerebrosidase Accum galactocerebroside, psychosine |
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Metachomatic leukodystrophy |
Def. arylsulfatase A Accum cerebroside sulfate |
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Hurler syndrome |
Def alpha-L-iduronidase Accum heparan/dermatan sulfate |
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Hunter sydrome |
Def Iduronate sulfatase Accum heparan/dermatan sulfate |
