Literature DB >> 1976182

Dihydropyrimidinuria.

M Duran, P Rovers, P K de Bree, C H Schreuder, H Beukenhorst, L Dorland, R Berger.   

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Year:  1990        PMID： 1976182     DOI： 10.1016/0140-6736(90)93288-z

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  10 in total

1.  Screening for defects of dihydropyrimidine degradation by analysis of amino acids in urine before and after acid hydrolysis.

Authors:  A H van Gennip; P C Driedijk; A Elzinga; N G Abeling
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?

Authors:  B Assmann; G F Hoffmann; L Wagner; C Bräutigam; H W Seyberth; M Duran; A B Van Kuilenburg; R Wevers; A H Van Gennip
Journal:  J Inherit Metab Dis       Date:  1997-09       Impact factor: 4.982

3.  Dihydropyrimidinuria without clinical symptoms.

Authors:  S Sumi; K Kidouchi; K Hayashi; S Ohba; Y Wada
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 4.  Inherited defects of purine and pyrimidine metabolism: laboratory methods for diagnosis.

Authors:  M Duran; L Dorland; E E Meuleman; P Allers; R Berger
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

5.  Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings.

Authors:  Hye-Sook Chang; Takako Shibata; Satoshi Arai; Chunhua Zhang; Akira Yabuki; Sawane Mitani; Takashi Higo; Kazuhiro Sunagawa; Keijiro Mizukami; Osamu Yamato
Journal:  JIMD Rep       Date:  2012-03-29

Review 6.  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

7.  Clinical and biochemical findings in six patients with pyrimidine degradation defects.

Authors:  A H van Gennip; N G Abeling; A E Stroomer; H van Lenthe; H D Bakker
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

Review 8.  Inborn errors of purine and pyrimidine metabolism.

Authors:  A Jurecka
Journal:  J Inherit Metab Dis       Date:  2009-03-15       Impact factor: 4.982

9.  Genetic polymorphisms of dihydropyrimidinase in a Japanese patient with capecitabine-induced toxicity.

Authors:  Masahiro Hiratsuka; Hiroshi Yamashita; Fumika Akai; Hiroki Hosono; Eiji Hishinuma; Noriyasu Hirasawa; Takahiro Mori
Journal:  PLoS One       Date:  2015-04-27       Impact factor: 3.240

10.  Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.

Authors:  Yoko Nakajima; Judith Meijer; Chunhua Zhang; Xu Wang; Tomomi Kondo; Tetsuya Ito; Doreen Dobritzsch; André B P Van Kuilenburg
Journal:  Int J Mol Sci       Date:  2016-01-12       Impact factor: 5.923
  10 in total

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