Number of the records: 1  

biografia

  1. MeSH Tree Structures - biografia


    [v01.175]

    [v02.170]

    [v02.530.150]

    Vysvetľujúca pozn. v angl.Systemic 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.
    Pozri aj (FX) v slov. iduronidáza
    mukopolysacharidóza II
    subject heading

    subject heading

Number of the records: 1  

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