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porfýrie

  1. Subject h.porfýrie
    Subject h.Porphyrias
    Scope note in EnglishA diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.
    See also reference (FX) in Slovak hydroxymetylbilánsyntáza
    porfobilinogénsyntáza
    See also reference (FX) in English Hydroxymethylbilane Synthase
    Porphobilinogen Synthase
    Links (15) - ARTICLES
    (2) - MeSH descriptor
    (3) - CiBaMed
    (11) - BOOKS
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Number of the records: 1  

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