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Dihydropyrimidine dehydrogenase deficiency--a further case.

作者信息

Wilcken B, Hammond J, Berger R, Wise G, James C

出版信息

J Inherit Metab Dis. 1985;8 Suppl 2:115-6. doi: 10.1007/BF01811485.

DOI:10.1007/BF01811485
PMID:3930855
Abstract
摘要

相似文献

1
Dihydropyrimidine dehydrogenase deficiency--a further case.
J Inherit Metab Dis. 1985;8 Suppl 2:115-6. doi: 10.1007/BF01811485.
2
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.
3
Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.
Clin Chim Acta. 1984 Aug 31;141(2-3):227-34. doi: 10.1016/0009-8981(84)90014-7.
4
Dihydropyrimidine dehydrogenase deficiency in a Hutterite newborn.
Adv Exp Med Biol. 1991;309B:311-4. doi: 10.1007/978-1-4615-7703-4_69.
5
Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria.一名患有胸腺嘧啶-尿嘧啶尿症的新生儿二氢嘧啶脱氢酶缺乏症的诊断。
Hong Kong Med J. 2003 Apr;9(2):130-2.
6
Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria.NADPH和NADH依赖的二氢嘧啶脱氢酶联合缺乏症：一个患有胸腺嘧啶-尿嘧啶尿症的家族中的新发现
J Inherit Metab Dis. 1995;18(2):185-8. doi: 10.1007/BF00711762.
7
[Dihydropyrimidine dehydrogenase deficiency].[二氢嘧啶脱氢酶缺乏症]
Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):490-3.
8
Comparative study of thymine and uracil metabolism in healthy persons and in a patient with dihydropyrimidine dehydrogenase deficiency.
Adv Exp Med Biol. 1989;253A:111-8. doi: 10.1007/978-1-4684-5673-8_17.
9
Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin.在一个巴基斯坦裔家族中，多态性表达的二氢嘧啶脱氢酶的表型与基因型之间缺乏相关性。
Pharmacogenetics. 1997 Apr;7(2):161-3. doi: 10.1097/00008571-199704000-00012.
10
Urinary screening for pyrimidine metabolism disorders. Reference ranges for dihydrouracil, uracil, and dihydrouracil/uracil ratio.
Adv Exp Med Biol. 1998;431:191-5.

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1
Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity.采用实时细胞分析和体外酶活性测定对与 5-氟尿嘧啶敏感性相关的 DPYD 变异进行表型谱分析。
Cancer Res. 2013 Mar 15;73(6):1958-68. doi: 10.1158/0008-5472.CAN-12-3858. Epub 2013 Jan 17.
2
Physiologically based pharmacokinetic modelling of the three-step metabolism of pyrimidine using C-uracil as an in vivo probe.以C-尿嘧啶作为体内探针的嘧啶三步代谢的生理药代动力学建模。
Br J Clin Pharmacol. 2005 Dec;60(6):584-93. doi: 10.1111/j.1365-2125.2005.02472.x.
3
Dihydropyrimidine dehydrogenase deficiency presenting at birth.

本文引用的文献

1
Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.
Clin Chim Acta. 1984 Aug 31;141(2-3):227-34. doi: 10.1016/0009-8981(84)90014-7.
2
Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency.一名患有二氢胸腺嘧啶脱氢酶缺乏症的儿童尿液、血液和脑脊液中尿嘧啶和胸腺嘧啶水平升高。
Clin Chim Acta. 1984 Jul 31;140(3):247-56. doi: 10.1016/0009-8981(84)90206-7.
3
The activities of thymidine metabolising enzymes during the cell cycle of a human lymphocyte cell line LAZ-007 synchronised by centrifugal elutriation.
Biochim Biophys Acta. 1980 Dec 15;633(3):400-9. doi: 10.1016/0304-4165(80)90198-1.
J Inherit Metab Dis. 2005;28(5):793-6. doi: 10.1007/s10545-005-4218-0.
4
Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation.
J Inherit Metab Dis. 1998 Jun;21(3):272-5. doi: 10.1023/a:1005328424310.
5
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.
6
A new case of dihydropyrimidine dehydrogenase deficiency.
J Inherit Metab Dis. 1990;13(1):121-4. doi: 10.1007/BF01799339.
4
Urinary excretion of thymine and uracil in a two-year-old child with a malignant tumor of the brain.一名患有脑恶性肿瘤的两岁儿童尿中胸腺嘧啶和尿嘧啶的排泄情况。
Clin Chem. 1979 Jul;25(7):1325-8.