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porfýria erytropoetická

  1. Subject h.porfýria erytropoetická
    Subject h.Porphyria, Erythropoietic
    Entry termsporfýria erytropoetická vrodená
    porfýria erytropoetická kongenitálna
    Güntherova choroba
    deficit uroporfyrinogén III syntázy
    English X referencesDeficiency of Uroporphyrinogen III Synthase
    Erythropoietic Porphyria
    Gunther's Disease
    Porphyria, Erythropoietic, Congenital
    Uroporphyrinogen III Synthase, Deficiency of
    Scope note in EnglishAn autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
    See also reference (FX) in Slovak uroporfyrinogén-III-syntetáza
    See also reference (FX) in English Uroporphyrinogen III Synthetase
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    (1) - MeSH descriptor
    (1) - BOOKS
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Number of the records: 1  

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