by ecd05c


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aggressive behavior, no corneal clouding
Hunter's Syndrome
Iduronate sulfatase
Beta glucocerebrosidase
Gaucher's Dz
Galactocerebrosidase
Krabbe's
Central/Peripheral demyelination w/ataxia, dementia
Metachromatic leukodystrophy
Arylsulfatase A
Hepatosplenomeg, aseptic necrosis of femur, bone crisis, macrophages that look like crumpled tissue paper
Gaucher's Dz
beta glucocerebrosidase
Peripheral Neuropathy of hands/feet, angiokeratomas, cardio/renal dz
Fabry's dz
alpha galactosidase
Progressive neurodegen, hepatosplenomeg, cherry red spot on macula, foam cells
Niemann-pick
sphingomyelinase
Sphingomyelinase
Niemann-Pick
Iduronate sulfatase
Hunter's
Peripheral Neuropathy, devo delay, optic atrophy, globoid cells
Krabbe's
Galactocerebrosidase
alpha galactosidase
Fabry's dz
Arylsulfatase A
Metachromatic leukodystrophy
Hexoaminidase A
Tay-Sachs
Alpha-L-iduronidase
Hurler's syndrome
Progressive neurodegen, devo delay, cherry red spot, lysosomes with onion skin, no hepatomeg
Tay-Sachs
Hexosaminidase A
devo delay, gargoylism, airway obstruc, corneal clouding, hepatosplenomeg
Hurler's
alpha-L-iduronidase
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