Literature DB >> 3930854

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

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

Abstract

Entities:  

Mesh：

Substances：

Year:  1985        PMID： 3930854     DOI： 10.1007/bf01811484

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  6 in total

1.  Reduction of thymine by leukocytes.

Authors:  H W Goedde; R Hoffbauer; K G Blume
Journal:  Biochem Genet       Date:  1968-06       Impact factor: 1.890

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

Authors:  A A Piper; M H Tattersall; R M Fox
Journal:  Biochim Biophys Acta       Date:  1980-12-15

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

Authors:  A H van Gennip; J P Kamerling; P K de Bree; S K Wadman
Journal:  Clin Chim Acta       Date:  1981-11-11       Impact factor: 3.786

4.  Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.

Authors:  A H van Gennip; D Y van Noordenburg-Huistra; P K de Bree; S K Wadman
Journal:  Clin Chim Acta       Date:  1978-05-16       Impact factor: 3.786

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

Authors:  G Berglund; J Greter; S Lindstedt; G Steen; J Waldenström; U Wass
Journal:  Clin Chem       Date:  1979-07       Impact factor: 8.327

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

Authors:  J A Bakkeren; R A De Abreu; R C Sengers; F J Gabreëls; J M Maas; W O Renier
Journal:  Clin Chim Acta       Date:  1984-07-31       Impact factor: 3.786
  6 in total
  5 in total

1.  A new case of dihydropyrimidine dehydrogenase deficiency.

Authors:  M Brockstedt; C Jakobs; L M Smit; A H van Gennip; R Berger
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity.

Authors:  X Wei; H L McLeod; J McMurrough; F J Gonzalez; P Fernandez-Salguero
Journal:  J Clin Invest       Date:  1996-08-01       Impact factor: 14.808

3.  Dihydropyrimidine dehydrogenase deficiency presenting at birth.

Authors:  N A Al-Sanna'a; A B P Van Kuilenburg; T M Atrak; M A Abdul-Jabbar; A H Van Gennip
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

4.  Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism.

Authors:  M Duran; P Rovers; P K de Bree; C H Schreuder; H Beukenhorst; L Dorland; R Berger
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

5.  Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity.

Authors:  Steven M Offer; Natalie J Wegner; Croix Fossum; Kangsheng Wang; Robert B Diasio
Journal:  Cancer Res       Date:  2013-01-17       Impact factor: 12.701
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.