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8 Cards in this Set
- Front
- Back
- 3rd side (hint)
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peripheral neuropathy of hands/feet, angioketatomas, cardiovascular/renal disease
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Fabry's disease, XR
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deficient: alpha-galactosidase A
accumulated: ceramide trihexoside |
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hepatosplenomegaly, aseptic femur necrosis, bone crises, tissue paper cells
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Gaucher's disease, AR
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deficient: beta-glucocerebrosidase
accumulated: glucocerebroside |
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progressive neurodegeneration, hepatosplenomegaly, cherry-red macula, foam cells
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Neimann-Pick disease, AR
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deficient: sphingomyelinase
accumulated: sphingomyelin |
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progressive neurodegenration, developmental delay, cherry-red macula, onion skin lysosomes, no hepatosplenomegaly
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Tay-Sachs disease
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deficient: hexosaminidase A
accumulated: GM2 ganglioside |
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peripheral neuropathy, developmental delay, optic atrophy, globoid cells
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Krabbe's disease, AR
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deficient: galactocerebrosidase
accumulated: galactocerebroside |
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central and peripheral demyelination with ataxia, dementia
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Metachromatic leukodystrophy, AR
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deficient: arylsulfatase A
accumulated: cerebroside sulfate |
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developmental delay, gargoylism, airway obstruction, corneal clouding
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Hurler's syndrome, AR
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deficient: alpha-L-iduronidase
accumulated: heparan sulfate, dermatan sulfate |
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developmental delay, aggressive, no corneal clouding
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Hunter's syndrome, XR
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deficient: iduronate sulfatase
accumulated: heparan sulfate, dermatan sulfate |
