26malik
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A 2-year-old retarded child is evaluated by a metabolic specialist. The child's history is significant for failure to thrive and progressive neurologic deterioration, including deafness and blindness.Physical examination is remarkable for hepatosplenomegaly, as well as a cherry-red spot on funduscopic examination. These symptoms are consistent with a diagnosis of
A. Hunter syndrome
B. Niemann-Pick disease
C. Pompe's disease
D. tyrosinosis
E. von Gierke's disease
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| nadiabarati
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B
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| star1
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| mjl1717
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answer- Neimann Pick //Hunter-def.-idurosulfate sulfatase- X-linked
Pompe-def-lysosomal acid maltase
Tyrosinosis may go by albinism or vitiligo-def tyrosine
Von Gierke-def glucose 6 phosphatase
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| robin082006
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Cheery Red Spot is a characteristic of Nieman and Tay Sachs
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| 26malik
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B
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