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23 Cards in this Set
- Front
- Back
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2 XR Lysosomal storage disesases?
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Fabrys and Hunters
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Renal Failure?
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Fabrys
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Most common lysosomal storage disease?
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Gauchers
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Demyelinating disease?
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Metachromatic Leukodystrophy
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Corneal Clouding and Mental retardation?
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Hurler's
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Corneal Clouding w/o Mental Retardation?
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Scheies
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No Corneal Clouding w/ Mental Retardation?
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Hunter's
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alpha-L-iduronidase?
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Hurlers and Scheies
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Iduronsate sulfatase
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Hunter's
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alpha-galactosidase A
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Fabry's
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Galactocerebrosidase enzyme deficiency?
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Krabbe's
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beta-Glucocerebrosidase enzyme deficiency?
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Gaucher's
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Galactocerebroside accumulation?
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Krabbe's
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Glucocerebroside Accumulation?
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Gaucher's
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hexosaminidase enzyme deficiency?
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Tay Sach's
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sphingomylinase enzyme deficiency?
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Niemann Pick
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GM2 ganglioside accumulation
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Tay Sach's
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dermatin sulfate accumulation
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Hurlers and Hunters and Scheies
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Ashkenzi Jews
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Tay sachs, Nieman Pick, Gaucher's
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crinkled paper cytoplasm
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Gaucher's
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Deficiency in mannose phosphorylation
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I-Cell Disease
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Corneal clouding, course facies, HSM, skeletal abnormalities, restricted joints, +/- MR
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I-Cell Disease
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cherry-red spot lysosomal storage disorder
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Tay Sachs, Niemann Pick, also central retinal artery occulusion
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