Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism.

Suppr

超能文献

作者信息

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

机构信息

University Children's Hospital Het Wilhelmina Kinderziekenhuis, Nieuwe Gracht, Utrecht, The Netherlands.

出版信息

J Inherit Metab Dis. 1991;14(3):367-70. doi: 10.1007/BF01811705.

DOI:10.1007/BF01811705

PMID:1770794

Abstract

摘要

相似文献

Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism.

J Inherit Metab Dis. 1991;14(3):367-70. doi: 10.1007/BF01811705.

Clinical and biochemical aspects of dihydropyrimidinase deficiency.

Adv Exp Med Biol. 1998;431:125-8. doi: 10.1007/978-1-4615-5381-6_24.

Simple method for the quantitative analysis of dihydropyrimidines and N-carbamyl-beta-amino acids in urine.

Adv Exp Med Biol. 1991;309B:15-9. doi: 10.1007/978-1-4615-7703-4_4.

Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.

J Chromatogr B Biomed Appl. 1995 Oct 20;672(2):233-9. doi: 10.1016/0378-4347(95)00228-b.

Dihydropyrimidinuria: the first case in Japan.

Adv Exp Med Biol. 1994;370:383-6. doi: 10.1007/978-1-4615-2584-4_83.

Dihydropyrimidinuria without clinical symptoms.

J Inherit Metab Dis. 1996;19(5):701-2. doi: 10.1007/BF01799851.

Heterogeneity of symptomatology in two male siblings with thymine uraciluria.

J Inherit Metab Dis. 1995;18(1):85-6. doi: 10.1007/BF00711383.

[Screening for disorders of purine and pyrimidine metabolism].

Tijdschr Kindergeneeskd. 1982 Feb;50(1):30-1.

Urinary screening for pyrimidine metabolism disorders. Reference ranges for dihydrouracil, uracil, and dihydrouracil/uracil ratio.

Adv Exp Med Biol. 1998;431:191-5.

Urinary excretion of purine and pyrimidine metabolites in the neonate.

Pediatr Res. 1993 Dec;34(6):762-6. doi: 10.1203/00006450-199312000-00012.

引用本文的文献

Urinary Metabolic Profiling During Epileptogenesis in Rat Model of Lithium-Pilocarpine-Induced Temporal Lobe Epilepsy.

Biomedicines. 2025 Feb 27;13(3):588. doi: 10.3390/biomedicines13030588.

In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.

J Clin Med. 2020 Jul 22;9(8):2342. doi: 10.3390/jcm9082342.

A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report.

BMC Med Genet. 2020 Jun 29;21(1):138. doi: 10.1186/s12881-020-01070-6.

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

Int J Mol Sci. 2016 Jan 12;17(1):86. doi: 10.3390/ijms17010086.

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

PLoS One. 2015 Apr 27;10(4):e0124818. doi: 10.1371/journal.pone.0124818. eCollection 2015.

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

JIMD Rep. 2012;6:21-6. doi: 10.1007/8904_2012_139. Epub 2012 Mar 29.

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

Appl Environ Microbiol. 2000 May;66(5):2133-8. doi: 10.1128/AEM.66.5.2133-2138.2000.

Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria.

J Inherit Metab Dis. 1997 Jul;20(3):339-42. doi: 10.1023/a:1005309423960.

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

J Inherit Metab Dis. 1997 Jun;20(2):214-26. doi: 10.1023/a:1005308923168.

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

J Inherit Metab Dis. 1997 Jun;20(2):203-13. doi: 10.1023/a:1005356806329.

本文引用的文献

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

J Inherit Metab Dis. 1985;8 Suppl 2:113-4. doi: 10.1007/BF01811484.

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

Clin Chim Acta. 1986 May 15;156(3):279-87. doi: 10.1016/0009-8981(86)90071-9.

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

J Clin Invest. 1988 Jan;81(1):47-51. doi: 10.1172/JCI113308.

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

Eur J Biochem. 1989 May 1;181(2):431-5. doi: 10.1111/j.1432-1033.1989.tb14743.x.

Dihydropyrimidine dehydrogenase activity in human blood mononuclear cells.

Enzyme. 1989;42(1):15-24. doi: 10.1159/000469002.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验