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DeCS
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Descriptor English:
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Dihydropyrimidine Dehydrogenase Deficiency
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Descriptor Spanish:
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Deficiencia de Dihidropirimidina Deshidrogenasa
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Descriptor Portuguese:
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Deficiência da Diidropirimidina Desidrogenase
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Tree Number:
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C16.320.565.798.183
C18.452.648.798.183
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Definition English:
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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. |
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History Note English:
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2008
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Allowable Qualifiers English:
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Record Number:
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52628
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Unique Identifier:
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D054067
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Occurrence in VHL:
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Similar:
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DeCS SciELO LILACS LIS
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