Literature DB >> 7541877

Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay.

M J Henderson1, K Ward, H A Simmonds, J A Duley, P M Davies.   

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Year:  1993        PMID： 7541877     DOI： 10.1007/bf00711685

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


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  2 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.  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
  2 in total
  10 in total

1.  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

2.  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 3.  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

4.  Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria.

Authors:  A H van Gennip; R A de Abreu; H van Lenthe; J Bakkeren; J Rotteveel; P Vreken; A B van Kuilenburg
Journal:  J Inherit Metab Dis       Date:  1997-07       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.  A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report.

Authors:  Malihe Mirzaei; Arghavan Kavosi; Mahboobeh Sharifzadeh; Ghazale Mahjoub; Mohammad Ali Faghihi; Parham Habibzadeh; Majid Yavarian
Journal:  BMC Med Genet       Date:  2020-06-29       Impact factor: 2.103

8.  Dihydropyrimidinase protects from DNA replication stress caused by cytotoxic metabolites.

Authors:  Jihane Basbous; Antoine Aze; Laurent Chaloin; Rana Lebdy; Dana Hodroj; Cyril Ribeyre; Marion Larroque; Caitlin Shepard; Baek Kim; Alain Pruvost; Jérôme Moreaux; Domenico Maiorano; Marcel Mechali; Angelos Constantinou
Journal:  Nucleic Acids Res       Date:  2020-02-28       Impact factor: 16.971

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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