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mukopolysacharidóza I

  1. Subject h.mukopolysacharidóza I
    Subject h.Mucopolysaccharidosis I
    Entry termsmorbus Hurler-Scheie
    Pfaundlerov-Hurlerovej syndróm
    Hurlerovej syndróm
    Scheieho syndróm
    mukopolysacharidóza V
    lipochondrodystrofia
    Hurlerovej-Scheieho syndróm
    English X referencesHurler's Syndrome
    Hurler-Scheie Syndrome
    Lipochondrodystrophy
    Mucopolysaccharidosis V
    Pfaundler-Hurler Syndrome
    Scheie's Syndrome
    Scope note in EnglishSystemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
    See also reference (FX) in Slovak iduronidáza
    mukopolysacharidóza II
    See also reference (FX) in English Iduronidase
    Mucopolysaccharidosis II
    Links (8) - ARTICLES
    (2) - MeSH descriptor
    (2) - CiBaMed
    (1) - BOOKS
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Number of the records: 1  

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