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General Features Of Glycogen Storage Disorders – Carbohydrates – Biochemistry
Glucose 6 phosphatase is seen in?
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Liver
Fructose 1,6 bisphosphatase is seen in?
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Liver and skeletal muscle
NOT a glycogen storage disease?
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Fabry disease
NOT a feature of Pompe’s disease?
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Hyperglycemia
Coarse facies, hepatosplenomegaly, tall QRS?
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Glycogen storage disease type II
Treatment of Pompe’s disease?
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Myozyme
McArdle Disease?
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Muscle Phosphorylase
Second wind phenomenon?
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McArdle disease
Danon disease?
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Burgundy colored urine?
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McArdle syndrome
DaVinci
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DaVinci
3 years ago
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