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

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作者信息

van Kuilenburg A B, Vreken P, Beex L V, De Abreu R A, van Gennip A H

机构信息

Academic Medical Center, University of Amsterdam, Department of Clinical Chemistry, The Netherlands.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):280-4. doi: 10.1023/a:1005384609289.

DOI:10.1023/a:1005384609289

PMID:9686375

Abstract

摘要

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本文引用的文献

Molecular diagnosis.分子诊断。

Can Fam Physician. 1987 Feb;33:401-4.

Subcellular localization of dihydropyrimidine dehydrogenase.

Biol Chem. 1997 Sep;378(9):1047-53. doi: 10.1515/bchm.1997.378.9.1047.

The activity of dihydropyrimidine dehydrogenase in human blood cells.人血细胞中二氢嘧啶脱氢酶的活性

J Inherit Metab Dis. 1997 Jul;20(3):331-4. doi: 10.1023/a:1005305323052.

Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects.嘧啶降解的先天性代谢缺陷：临床、生化及分子学方面

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

A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency.在两名患有二氢嘧啶脱氢酶缺乏症的不相关荷兰患者中，一个不变剪接供体位点的点突变导致外显子跳跃。

J Inherit Metab Dis. 1996;19(5):645-54. doi: 10.1007/BF01799841.

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

Anticancer Res. 1996 Jan-Feb;16(1):389-94.

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

Clin Chem. 1993 Mar;39(3):380-5.

Clinical cardiotoxicity of 5-fluorouracil.

J Clin Pharmacol. 1993 Nov;33(11):1060-70. doi: 10.1002/j.1552-4604.1993.tb01943.x.

Dihydropyrimidine dehydrogenase activity in human peripheral blood mononuclear cells and liver: population characteristics, newly identified deficient patients, and clinical implication in 5-fluorouracil chemotherapy.人外周血单个核细胞和肝脏中的二氢嘧啶脱氢酶活性：群体特征、新发现的缺陷患者以及5-氟尿嘧啶化疗的临床意义

Cancer Res. 1993 Nov 15;53(22):5433-8.

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

J Inherit Metab Dis. 1994;17(1):130-2. doi: 10.1007/BF00735416.

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