Dihydropyrimidine dehydrogenase deficiency--a further case.

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作者信息

Wilcken B, Hammond J, Berger R, Wise G, James C

出版信息

J Inherit Metab Dis. 1985;8 Suppl 2:115-6. doi: 10.1007/BF01811485.

DOI:10.1007/BF01811485

PMID:3930855

Abstract

摘要

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本文引用的文献

Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.

Clin Chim Acta. 1984 Aug 31;141(2-3):227-34. doi: 10.1016/0009-8981(84)90014-7.

Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency.

Clin Chim Acta. 1984 Jul 31;140(3):247-56. doi: 10.1016/0009-8981(84)90206-7.

The activities of thymidine metabolising enzymes during the cell cycle of a human lymphocyte cell line LAZ-007 synchronised by centrifugal elutriation.

Biochim Biophys Acta. 1980 Dec 15;633(3):400-9. doi: 10.1016/0304-4165(80)90198-1.

Urinary excretion of thymine and uracil in a two-year-old child with a malignant tumor of the brain.

Clin Chem. 1979 Jul;25(7):1325-8.

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