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

作者信息

Wadman S K, Berger R, Duran M, de Bree P K, Stoker-de Vries S A, Beemer F A, Weits-Binnerts J J, Penders T J, van der Woude J K

出版信息

J Inherit Metab Dis. 1985;8 Suppl 2:113-4. doi: 10.1007/BF01811484.

DOI:10.1007/BF01811484

PMID:3930854

Abstract

摘要

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Linear relationship between the R- and S-enantiomers of a beta-aminoisobutyric acid in human urine.

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

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