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21 Cards in this Set
- Front
- Back
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Fabry's disease inheritence, enzyme deficiency, accumulated substance.
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XR, deficient alpha galactosidase A; ceramide trihexoside accumulates
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gauchers disease deficits
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deficient beta-glucocerebroside; glucocerebroside accumulates
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gaucher cells
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crumpled tissue paper
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aseptic necrosis of femur, bone crises, hepatosplenomegaly (no CNS)
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Gaucher's disease
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Niemann-Pick disease deficits
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deficient sphingomyelinase; accumulated sphingomyelin
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progressive neurodegeneration, hepatosplenomegally
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Niemann-Pick
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niemann pick disease cells
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foam cells
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Tay Sach's disease deficits
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deficient hexosaminidase A; GM2 ganglioside
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progressive neurodegeneration, developmental delay
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tay sachs
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tay sachs cells
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lysosomes with onion skin
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Krabbe's disease deficits
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deficient galactocerebrosidase, galactocerebroside accumulates
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peripheral neuropathy, developmental dealy, optic atrophy
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Krabbe's disease
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cells in Krabbe's disease
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globoid cells
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metachromatic leukodystrophy deficits
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deficient arylsulfatase A; cerebroside sulfate accumulates
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central and peripheral demyelination with ataxia, dementia
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metachromatic leukodystrophy
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Hurler's syndrome deficits
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deficient alpha-L-iduronidase; heparan sulfate, dermatan sulfate accumulates
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corneal clouding
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think Hurler's
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inheritance of Hurler's v. hunter's
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hurlers is AR, hunters is XR
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developmental delay, gargoylism, airway obstruction, corneal clouding
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hurler's
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hunter's syndrome deficits
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deficient iduronate sulfatase; heparan sulfate, dermatan sulfate accumulates
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no corneal clouding, mild developmental delay, gargoylism, airway obstruction
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Hunter's syndrome
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