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deficit dihydropyrimidíndehydrogenázy

  1. Record numberd054067
    Date06.06.2025
    TypeM - MESH
    Topical termdeficit dihydropyrimidíndehydrogenázy
    UDCC16.320.565.798.183C18.452.648.798.183
    NoteAn autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.
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Number of the records: 1  

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