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53 Cards in this Set
- Front
- Back
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Deficiency & accumulation: Hurler |
alpha-L-iduronidase heparan, dermatan sulfate |
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deficiency in alpha-L-iduronidase |
Hurler |
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accumulation of heparan and dermatan |
Hurler and Hunter |
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characteristics of Hurler |
organomegaly clawed hands corneal clouding |
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organomegaly clawed hands corneal clouding |
Hurler |
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deficiency and accumulation of Hunter |
iduionate sulfatase dermatan and heparan |
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accumulation of San Filipo |
heparan sulfatase |
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accumulation of Morquio |
keratan sulfatase |
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deficiency and accumulation of Tay-Sachs |
hexosaminidase GM2 gangliosidase |
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deficiency and accumulation of Sandhoff |
hexosaminidase GM2 gangliosidase |
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deficiency and accumulation of Fabry |
alpha galactosidase globosides |
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deficiency of Gaucher |
beta glucocerebrosidase |
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deficiency and accumulation of Niemann-Pick |
sphingomyelinase sphingomyelin |
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deficiency and accumulation of metachromatic leukodystrophy |
arylsulfatase A cerebroside sulfate |
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deficiency and accumulation of krabbe |
galactocerebrosidase galactocerebroside |
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deficiency and accumulation of Farber |
ceremidase ceramide |
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deficiency in iduionate sulfatase |
Hunter |
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deficiency in hexosaminidase |
Tay-Sachs Sandhoff |
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deficiency in alpha galactosidase |
Fabry |
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deficiency in beta glucocerebrosidase |
Gaucher |
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deficiency in sphingomyelinase |
Niemann-Pick |
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deficiency in arylsulfatase |
metachromatic leukodystrophy |
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deficiency in galactocerebrosidase |
Krabbe |
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deficiency in ceramidase |
Farber |
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accumulation in heparan sulfatase |
San Filipo |
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accumulation in keratan |
Morquio |
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accumulation in GM2 gangliosidoses |
Tay-Sachs Sandhoff |
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accumulation in globosides |
Fabry |
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accumulation in spingomyelin |
Niemann-Pick |
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accumulation in cerebroside sulfate |
metachromatic leykosdystrophy |
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accumulation in galactocerebroside |
Krabbe |
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accumulation in ceramide |
Farber |
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characteristics of Hunter |
no corneal clouding organomegaly clawed hands XLR |
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no corneal clouding organomegaly clawed hands XLR |
Hunter |
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characteristics of san filipo |
CNS damage hyperactivity mental deterioration bad behavior big head coarse hair |
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CNS damage hyperactivity mental deterioration bad behavior big head coarse hair |
San Filipo |
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characteristics of Morquio |
severe bone problems long deformed bones spinal deformaties normal intelligence |
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severe bone problems long deformed bones spinal deformities normal intelligence |
morquio |
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characteristics of Tay-Sachs |
no organomegaly cherry-red spot on macula onion lysosomes blindness seizures |
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no organomegaly cherry-red macula onion lysosomes blindness seizures |
Tay-Sachs |
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characteristics of sandhoff |
similar to Tay-sachs organomegaly |
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organomegaly similar to Tay-Sachs |
Sandhoff |
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characteristics of Fabry |
every organ has problems XLR angiokeratomas |
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XLR angiokeratomas, skin & PNS problems |
Fabry |
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characteristics of Gaucher |
bone: erlenmeyer flasks and osteonecrosis organomegaly wrinkled lysosomes CNS |
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erlenmeyere flask bone osteonecrosis organomegaly wrinkled lysosomes CNS |
Gaucher |
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characteristics of niemann-pick |
cherry-red macula foamy lysosomes zebra striations organomegaly Jewish |
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cherry-red macula foamy lysosomes zebra striations organomegaly jewish |
Niemann-Pick |
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characteristics of metachromatic leukodystrophy |
CNS and PNS damage |
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characteristics of Krabbe |
globoid lysosomes |
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globoid lysosomes
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Krabbe |
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characteristics of Farber |
joint deformities early onset arthritis skin nodules |
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joint deformities early onset arthritis skin nodules |
Farber |
