Number of the records: 1  

porfýrie

  1. Record numberd011164
    Date06.06.2025
    TypeM - MESH
    Topical termporfýrie
    See also(Later heading) hydroxymetylbilánsyntáza
    (Skutočné meno) porfobilinogénsyntáza
    (Skutočné meno) hydroxymetylbilánsyntáza
    UDCC18.452.811
    NoteA 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.
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Number of the records: 1  

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