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48 Cards in this Set
- Front
- Back
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Assoc w renal failure
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Fabry
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Fabry inheritance
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X linked
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X linked
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Hunters
Fabry |
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Mc LSD
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Gaucher
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Gaucher sx
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Aseptic necrosis femur
Hepatospelenomegaly Macrophages look lik crumple tissue paper |
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Assoc early dead
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Tay sach
Niemman pick Krabbe |
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Demyeling disease
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Metachromatic leukodystropjy
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Ddx using corneal clouding and mental retard
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Hurler: corneal and MR
Hunter: MR Schenie: corneal clod I cell: corneal +\- mr |
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Deficiency alfa L iduronidase
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Hurler and scheie
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Deficiency iduronate sulfatase
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Hunter
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Defic arylsulfatase A
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Metachromatic leukodystrophy
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Lack alfa galactosidase A
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Fabry
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Lack galacto cerebrosidase
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Krabbe
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Lack glucocerebroside
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Gaucher
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Deficiency alfa L iduronidase
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Hurler and scheie
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Deficiency iduronate sulfatase
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Hunter
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Defic arylsulfatase A
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Metachromatic leukodystrophy
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Lack alfa galactosidase A
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Fabry
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Lack galacto cerebrosidase
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Krabbe
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Lack glucocerebroside
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Gaucher
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Lack hexosaminidase
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Tay sach
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Deficiency alfa L iduronidase
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Hurler and scheie
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Deficiency iduronate sulfatase
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Hunter
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Defic arylsulfatase A
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Metachromatic leukodystrophy
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Lack alfa galactosidase A
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Fabry
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Lack galacto cerebrosidase
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Krabbe
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Lack glucocerebroside
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Gaucher
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Lack hexosaminidase
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Tay sach
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Lack sphingomyelinase
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Niemann pick
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Deficiency alfa L iduronidase
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Hurler and scheie
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Deficiency iduronate sulfatase
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Hunter
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Defic arylsulfatase A
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Metachromatic leukodystrophy
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Lack alfa galactosidase A
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Fabry
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Lack galacto cerebrosidase
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Krabbe
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Lack glucocerebroside
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Gaucher
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Lack hexosaminidase
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Tay sach
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Lack sphingomyelinase
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Niemann pick
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Accumulation dermatan sulfato
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Hurler
Hunter Scheie |
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Deficiency alfa L iduronidase
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Hurler and scheie
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Deficiency iduronate sulfatase
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Hunter
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Defic arylsulfatase A
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Metachromatic leukodystrophy
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Lack alfa galactosidase A
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Fabry
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Lack galacto cerebrosidase
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Krabbe
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Lack glucocerebroside
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Gaucher
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Lack hexosaminidase
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Tay sach
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Lack sphingomyelinase
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Niemann pick
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Accumulation dermatan sulfato
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Hurler
Hunter Scheie |
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Ddx cherry spot retina
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Nieman pick:
Tay sach Central retinal artery occlusion |
