kiranmayi
Forum Guru
Topics: 237
Posts: 407
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Pt appears healthy at birth. Diagnosis is usually made in infants aged 6-24 months. Inguinal and umbilical hernias are commonly seen at birth. On physical examination, these patients are observed to have corneal clouding, hepatosplenomegaly, skeletal deformities (dysostosis multiplex), coarse facial features, large tongue. "What is the missing enzyme?"
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| dxtxpx
Forum Guru
Topics: 259
Posts: 1,233
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Hurler syndrome
def of alpha L iduronidase
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