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Literature DB >> 1770794

Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism.

M Duran¹, P Rovers, P K de Bree, C H Schreuder, H Beukenhorst, L Dorland, R Berger.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1991 PMID： 1770794 DOI： 10.1007/bf01811705

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

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5 in total

1. Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity.

Authors: R B Diasio; T L Beavers; J T Carpenter
Journal: J Clin Invest Date: 1988-01 Impact factor: 14.808

2. Purification and properties of 5,6-dihydropyrimidine amidohydrolase from calf liver.

Authors: J Kautz; K D Schnackerz
Journal: Eur J Biochem Date: 1989-05-01

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

Authors: S K Wadman; R Berger; M Duran; P K de Bree; S A Stoker-de Vries; F A Beemer; J J Weits-Binnerts; T J Penders; J K van der Woude
Journal: J Inherit Metab Dis Date: 1985 Impact factor: 4.982

4. Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines.

Authors: P K de Bree; S K Wadman; M Duran; H Fabery de Jonge
Journal: Clin Chim Acta Date: 1986-05-15 Impact factor: 3.786

5. Dihydropyrimidine dehydrogenase activity in human blood mononuclear cells.

Authors: M Tuchman; R V Roemeling; W A Hrushesky; R B Sothern; R F O'Dea
Journal: Enzyme Date: 1989

5 in total

11 in total

1. 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 2. When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications.

Authors: H A Simmonds; J A Duley; L D Fairbanks; M B McBride
Journal: J Inherit Metab Dis Date: 1997-06 Impact factor: 4.982

Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism.

1. Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity.

2. Purification and properties of 5,6-dihydropyrimidine amidohydrolase from calf liver.

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

4. Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines.

5. Dihydropyrimidine dehydrogenase activity in human blood mononuclear cells.

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

Review 2. When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications.

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

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

Review 5. Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects.

6. Construction and evaluation of a novel bifunctional N-carbamylase-D-hydantoinase fusion enzyme.

Review 7. When and how does one search for inborn errors of purine and pyrimidine metabolism?

8. Group tests for selective screening of inborn errors of metabolism.

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

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