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deficit syntetázy holokarboxylázy

  1. Subject h.deficit syntetázy holokarboxylázy
    Subject h.Holocarboxylase Synthetase Deficiency
    Entry termsnedostatok syntetázy holokarboxylázy
    deficit holokarboxylázasyntetázy
    nedostatok holokarboxylázasyntetázy
    deficit karboxylázy, mnohopočetný, novorodenecká forma
    deficit karboxylázy, mnohopočetný, infantilná forma
    nedostatok karboxylázy, mnohopočetný, novorodenecká forma
    nedostatok karboxylázy, mnohopočetný, infantilná forma
    English X referencesCarboxylase Deficiency, Multiple, Neonatal Form
    Multiple Carboxylase Deficiency, Neonatal Form
    Scope note in EnglishThe neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase).
    See also reference (FX) in Slovak biotín
    See also reference (FX) in English Biotin
    Links (1) - MeSH descriptor
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Number of the records: 1  

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