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deficit karboxylázy, mnohopočetný

  1. Subject h.deficit karboxylázy, mnohopočetný
    Subject h.Multiple Carboxylase Deficiency
    Entry termsdeficit karboxylázový mnohopočetný
    deficit karboxylázy, kombinovaný
    deficit karboxylázový kombinovaný
    English X referencesCarboxylase Deficiency, Multiple
    Combined Carboxylase Deficiency
    Scope note in EnglishA deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
    See also reference (FX) in Slovak biotín
    See also reference (FX) in English Biotin
    Links (2) - MeSH descriptor
    (1) - BOOKS
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