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mukopolysacharidóza III

  1. Subject h.mukopolysacharidóza III
    Subject h.Mucopolysaccharidosis III
    Entry termsoligofrénia polydystrofická
    Sanfilippov syndróm
    English X referencesPolydystrophic Oligophrenia
    Sanfilippo's Syndrome
    Scope note in EnglishMucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
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