Literature DB >> 10234617

Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation.

A B Van Kuilenburg1, P Vreken, D Riva, G Botteon, N G Abeling, H D Bakker, A H Van Gennip.   

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Year:  1999        PMID： 10234617     DOI： 10.1023/a:1005470524203

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


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  3 in total

Review 1.  Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects.

Authors:  A H van Gennip; N G Abeling; P Vreken; A B van Kuilenburg
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

2.  Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W.

Authors:  P Vreken; A B Van Kuilenburg; R Meinsma; A H van Gennip
Journal:  Hum Genet       Date:  1997-12       Impact factor: 4.132

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

Authors:  R Berger; S A Stoker-de Vries; S K Wadman; M Duran; F A Beemer; P K de Bree; J J Weits-Binnerts; T J Penders; J K van der Woude
Journal:  Clin Chim Acta       Date:  1984-08-31       Impact factor: 3.786
  3 in total
  5 in total

1.  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

2.  Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency.

Authors:  G M Enns; A J Barkovich; A B P van Kuilenburg; M Manning; T Sanger; D R Witt; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

3.  Germline mutation of dihydropyrimidine dehydrogenese gene among a Japanese population in relation to toxicity to 5-Fluorouracil.

Authors:  K Yamaguchi; Y Arai; Y Kanda; K Akagi
Journal:  Jpn J Cancer Res       Date:  2001-03

4.  Germline pharmacogenomics of DPYD*9A (c.85T>C) variant in patients with gastrointestinal malignancies treated with fluoropyrimidines.

Authors:  Moh'd Khushman; Girijesh Kumar Patel; Peter Joel Hosein; Javier Ariel Laurini; Daniel Cameron; David Roland Clarkson; Thomas Wayne Butler; Carole Wiseman Norden; Wilma Baliem; Vanessa Jones; Sanjyot Bhadkamkar; Cindy Nelson; Frances Lee; Ajay P Singh; William R Taylor
Journal:  J Gastrointest Oncol       Date:  2018-06

5.  Evaluation of clinical value of single nucleotide polymorphisms of dihydropyrimidine dehydrogenase gene to predict 5-fluorouracil toxicity in 60 colorectal cancer patients in China.

Authors:  Xin Zhang; Butong Sun; Zhenxia Lu
Journal:  Int J Med Sci       Date:  2013-05-20       Impact factor: 3.738
  5 in total

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