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deficit syntetázy holokarboxylázy

  1. Record numberd028922
    Date06.06.2025
    TypeM
    Topical termdeficit syntetázy holokarboxylázy
    Other termEnglish (Pseudonym) Carboxylase Deficiency, Multiple, Neonatal Form
    English (Pseudonym) Multiple Carboxylase Deficiency, Neonatal Form
    Slovak (Pseudonym) nedostatok syntetázy holokarboxylázy
    Slovak (Pseudonym) deficit holokarboxylázasyntetázy
    Slovak (Pseudonym) nedostatok holokarboxylázasyntetázy
    Slovak (Pseudonym) deficit karboxylázy, mnohopočetný, novorodenecká forma
    Slovak (Pseudonym) deficit karboxylázy, mnohopočetný, infantilná forma
    Slovak (Pseudonym) nedostatok karboxylázy, mnohopočetný, novorodenecká forma
    Slovak (Pseudonym) nedostatok karboxylázy, mnohopočetný, infantilná forma
    See also(Later heading) biotín
    (Skutočné meno) biotín
    UDCC16.320.565.100.620.380C16.320.565.202.720.380C18.452.648.100.620.380C18.452.648.202.720.380
    NoteThe 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).
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