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mukopolysacharidóza II

  1. Subject h.mukopolysacharidóza II
    Subject h.Mucopolysaccharidosis II
    Entry termsgargoylizmus, Hunterov syndróm
    Hunterov syndróm
    deficit iduronát sulfatázy
    deficit iduronát-2-sulfatázy
    deficit sulfoiduronát sulfatázy
    English X referencesGargoylism, Hunter Syndrome
    Hunter's Syndrome
    Iduronate 2-Sulfatase Deficiency
    Iduronate Sulfatase Deficiency
    Sulfoiduronate Sulfatase Deficiency
    Scope note in EnglishSystemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.
    See also reference (FX) in Slovak iduronátsulfatáza
    mukopolysacharidóza I
    See also reference (FX) in English Iduronate Sulfatase
    Mucopolysaccharidosis I
    Links (12) - ARTICLES
    (2) - MeSH descriptor
    (2) - CiBaMed
    (2) - BOOKS
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Number of the records: 1  

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