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porfýria intermitentná akútna

  1. Subject h.porfýria intermitentná akútna
    Subject h.Porphyria, Acute Intermittent
    Entry termsporfýria prechodná akútna
    porphyria acuta intermittens
    deficit hydroxymetylbilansyntázy
    deficit hydroxymetylbilan syntázy
    nedostatok hydroxymetylbilansyntázy
    deficit uroporfyrinogén syntázy
    deficit uroporfyrinogénsyntázy
    English X referencesHydroxymethylbilane Synthase Deficiency
    Uroporphyrinogen Synthase Deficiency
    Scope note in EnglishAn autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
    See also reference (FX) in Slovak hydroxymetylbilánsyntáza
    See also reference (FX) in English Hydroxymethylbilane Synthase
    Links (16) - ARTICLES
    (1) - MeSH descriptor
    (1) - CiBaMed
    (1) - BOOKS
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Number of the records: 1  

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