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Results: 3

1.

Dihydrouracil dehydrogenase (NADP^+^) deficiency

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. [from MeSH]

MedGen UID:
409522
Concept ID:
C1959620
Disease or Syndrome
2.

Dihydropyrimidine dehydrogenase deficiency

MedGen UID:
404073
Concept ID:
C2720286
Disease or Syndrome
3.

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ID:
75655

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