Number of the records: 1  

choroba z deficitu ornitíntranskarbamoylázy

  1. Subject h.choroba z deficitu ornitíntranskarbamoylázy
    Subject h.Ornithine Carbamoyltransferase Deficiency Disease
    Entry termschoroba z nedostatku ornitíntranskarbamoylázy
    choroba z deficitu ornitínkarbamoyltransferázy
    deficit OTC
    deficit ornitíntranskarbamoylázy
    choroba z deficitu ornitíntranskarbamylázy
    deficit ornitíntranskarbamylázy
    English X referencesOTC Deficiency
    Ornithine Transcarbamylase Deficiency
    Ornithine Transcarbamylase Deficiency Disease
    Scope note in EnglishAn inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
    See also reference (FX) in Slovak ornitíntranskarbamoyláza
    See also reference (FX) in English Ornithine Carbamoyltransferase
    Links (7) - ARTICLES
    (1) - MeSH descriptor
    (1) - CiBaMed
    subject heading

    subject heading

Number of the records: 1  

  This site uses cookies to make them easier to browse. Learn more about how we use cookies.

Accept allSettingsReject all