Term
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Definition
Glucose 6 phosphatase
Hepatomegaly, fasting hypoglycemia, increased blood lactate/glycogen in liver |
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Term
|
Definition
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Term
|
Definition
Cardiomegaly and systemic findings
Lysosomal alpha-1,4-glucosidase (acid maltase) |
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Term
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Definition
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Term
|
Definition
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Term
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Definition
Muscle glycogen phosphorylase
increased glycogen in muscle causing cramps, myoglobinuria w/ exercise |
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Term
| Muscle glycogen phosphorylase |
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Definition
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Term
|
Definition
Peripheral neuropathy of hands/feet
Angiokeratomas, CV/Renal disease
Ceramide trihexoside/alpha-galactosidase
X-linked |
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Term
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Definition
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Term
|
Definition
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Term
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Definition
| Hepatosplenomegaly aseptic necrosis of femur/bone crises "Macrophages that look like crumpled tissue paper," glucocerebroside |
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Term
| aseptic necrosis of femur |
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Definition
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Term
| "Macrophages that look like crumpled tissue paper" |
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Definition
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Term
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Definition
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Term
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Definition
| Neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells, Sphingomyelin |
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Term
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Definition
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Term
| Cherry-red spot on macula |
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Definition
| Niemann-Pick or Tay -Sachs |
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Term
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Definition
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Term
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Definition
| Neurodegeneration, cherry-red spot on macula, onion skin lysosomes, NO hepatosplenomegaly, Hexosaminidase A, GM2 ganglioside |
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Term
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Definition
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Term
|
Definition
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Term
|
Definition
| Optic atrophy, globoid cells, beta-galactocerebrosidase |
|
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Term
| beta-galactocerebrosidase |
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Definition
|
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Term
| Metachromatic Leukodystrophy |
|
Definition
| Demyelination w/ ataxia, dementia, arylsulfatase A, Cerebroside sulfate |
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Term
|
Definition
| Metachromatic Leukodystrophy |
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Term
|
Definition
| Metachromatic Leukodystrophy |
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Term
|
Definition
| Gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly, alpha-L-iduronidase, Heparan sulfate, dermatan sulfate; MPS |
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Term
| Heparan sulfate, dermatan sulfate |
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Definition
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Term
|
Definition
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Term
|
Definition
| Mild Hurler's + aggressive behavior, no corneal clouding; Iduronate sulfatase; XR, MPS |
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Term
|
Definition
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|
Term
| Hunters see clearly and aim for the X |
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Definition
| XR and no corneal clouding; MPS |
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Term
|
Definition
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Term
|
Definition
| Tay Sachs, Niemann-Pick, and some Gaucher's |
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