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Literature DB >> 8051923

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

A H van Gennip¹, N G Abeling, A E Stroomer, H van Lenthe, H D Bakker.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

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Year: 1994 PMID： 8051923 DOI： 10.1007/bf00735416

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

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7 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. The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency.

Authors: C Jakobs; F Stellaard; L M Smit; J M van Vugt; M Duran; R Berger; P Rovers
Journal: Eur J Pediatr Date: 1991-02 Impact factor: 3.183

3. Dihydropyrimidinuria.

Authors: M Duran; P Rovers; P K de Bree; C H Schreuder; H Beukenhorst; L Dorland; R Berger
Journal: Lancet Date: 1990-09-29 Impact factor: 79.321

Review 4. 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

5. 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. 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

7. Dihydropyrimidine dehydrogenase deficiency. Neurological aspects.

Authors: J P Braakhekke; W O Renier; F J Gabreëls; R A De Abreu; J A Bakkeren; R C Sengers
Journal: J Neurol Sci Date: 1987-03 Impact factor: 3.181

7 in total

15 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. Dihydropyrimidine dehydrogenase deficiency: a novel mutation and expression of missense mutations in E. coli.

Authors: P Vreken; A B van Kuilenburg; R Meinsma; F A Beemer; M Duran; A H van Gennip
Journal: J Inherit Metab Dis Date: 1998-06 Impact factor: 4.982

3. Severe 5-fluorouracil toxicity caused by reduced dihydropyrimidine dehydrogenase activity due to heterozygosity for a G-->A point mutation.

Authors: A B van Kuilenburg; P Vreken; L V Beex; R A De Abreu; A H van Gennip
Journal: J Inherit Metab Dis Date: 1998-06 Impact factor: 4.982

4. The activity of dihydropyrimidine dehydrogenase in human blood cells.

Authors: A B Van Kuilenburg; M J Blom; H Van Lenthe; E Mul; A H Van Gennip
Journal: J Inherit Metab Dis Date: 1997-07 Impact factor: 4.982

5. Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene.

Authors: P Vreken; A B Van Kuilenburg; R Meinsma; A H van Gennip
Journal: J Inherit Metab Dis Date: 1997-07 Impact factor: 4.982

6. Inhibition of beta-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemia.

Authors: A H van Gennip; H van Lenthe; N G Abeling; E G Scholten; A B van Kuilenburg
Journal: J Inherit Metab Dis Date: 1997-07 Impact factor: 4.982