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mukopolysacharidóza VI

  1. Subject h.mukopolysacharidóza VI
    Subject h.Mucopolysaccharidosis VI
    Entry termsMaroteauxov-Lamyho syndróm III
    nanizmus polydystrofický
    English X referencesMaroteaux-Lamy Syndrome
    Polydystrophic Dwarfism
    Scope note in EnglishMucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).
    Links (5) - ARTICLES
    (1) - CiBaMed
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