Literature DB >> 9266350

Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria.

A H van Gennip1, R A de Abreu, H van Lenthe, J Bakkeren, J Rotteveel, P Vreken, A B van Kuilenburg.   

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Year:  1997        PMID： 9266350     DOI： 10.1023/a:1005309423960

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


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  6 in total

1.  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.  Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay.

Authors:  M J Henderson; K Ward; H A Simmonds; J A Duley; P M Davies
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 3.  Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation.

Authors:  A H van Gennip; S Busch; L Elzinga; A E Stroomer; A van Cruchten; E G Scholten; N G Abeling
Journal:  Clin Chem       Date:  1993-03       Impact factor: 8.327

4.  Dihydropyrimidinuria: the first case in Japan.

Authors:  S Ohba; K Kidouchi; S Sumi; M Imaeda; N Takeda; H Yoshizumi; A Tatematsu; K Kodama; K Yamanaka; M Kobayashi
Journal:  Adv Exp Med Biol       Date:  1994       Impact factor: 2.622

5.  Measurement of protein using bicinchoninic acid.

Authors:  P K Smith; R I Krohn; G T Hermanson; A K Mallia; F H Gartner; M D Provenzano; E K Fujimoto; N M Goeke; B J Olson; D C Klenk
Journal:  Anal Biochem       Date:  1985-10       Impact factor: 3.365

6.  Identification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man.

Authors:  A B Van Kuilenburg; H Van Lenthe; A H Van Gennip
Journal:  Anticancer Res       Date:  1996 Jan-Feb       Impact factor: 2.480
  6 in total
  5 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.  Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level.

Authors:  A B Van Kuilenburg; H Van Lenthe; B Assmann; G Göhlich-Ratmann; G F Hoffmann; C Bräutigam; R A Wevers; A H Van Gennip
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

3.  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 4.  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

5.  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
  5 in total

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