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deficit dihydropyrimidíndehydrogenázy
Č. záznamu d054067 Dátum 06.06.2025 Typ M - MESH Tematický termín deficit dihydropyrimidíndehydrogenázy MDT C16.320.565.798.183C18.452.648.798.183 Poznámka An 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. predmetové heslo
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