Q:

A definitive diagnosis of mucopolysaccharidoses disorder is established by

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A definitive diagnosis of mucopolysaccharidoses disorder is established by 


  1. liver biopsy
  2. enzyme assay
  3. radiographic features
  4. bone marrow examination
  5. urinary glycosaminoglycan (GAG) test

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(B). Any individual who is suspected of a mucopolysaccharidoses disorder based on clinical features, radiographic results, or urinary GAG screening tests should have a definitive diagnosis established by enzyme assay. Serum, leukocytes, or cultured fibroblasts are used as the tissue source for measuring lysosomal enzymes

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