WVSOM -- First Aid -- Lysosomal Storage Diseases
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| Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease | Fabry's Disease
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| Hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages that look like crumpled tissue paper | Gaucher's disease
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| Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells | Neimann Pick
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| Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly | Tay-Sachs
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| How do you differenciate Neimann Pick from Tay-Sachs | Niemann Pick has Hepatosplenomegaly
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| Alpha galactosidase A deficiency | Fabry's Disease
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| Beta-glucocerebrosidase deficiency | Goucher's Disease
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| Sphingomyelinase deficiency | Niemann-Pick
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| Hexosaminidase A | Tay-Sachs
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| Which ones are AR? | Goucher, Niemann Pick, Tay Sachs
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| Accumulation of GM2 glanglioside | Tay-Sachs
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| Accumulation of ceramide trihexoside? | Fabry Disease
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| Developmental Delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly | Hurler's Syndrome
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| How do you differentiate Hurler from Hunter's Syndrome | Aggressive behavior and no corneal clouding in Hunter's Syndrome
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| alpha-L-iduronidase deficiency | Hurler's Syndrome
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| iduronate sulfatase deficiency | Hunter Syndrome
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Created by:
tjamrose
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