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

作者信息

Wadman S K, Berger R, Duran M, de Bree P K, Stoker-de Vries S A, Beemer F A, Weits-Binnerts J J, Penders T J, van der Woude J K

出版信息

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

DOI:10.1007/BF01811484
PMID:3930854
Abstract
摘要

相似文献

1
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.
2
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.
3
Dihydropyrimidine dehydrogenase deficiency--a further case.
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4
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.
5
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.
6
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。
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7
Dihydropyrimidine dehydrogenase deficiency in a Hutterite newborn.
Adv Exp Med Biol. 1991;309B:311-4. doi: 10.1007/978-1-4615-7703-4_69.
8
[Dihydropyrimidine dehydrogenase deficiency].[二氢嘧啶脱氢酶缺乏症]
Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):490-3.
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Comparative study of thymine and uracil metabolism in healthy persons and in a patient with dihydropyrimidine dehydrogenase deficiency.
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10
Heterogeneity of symptomatology in two male siblings with thymine uraciluria.
J Inherit Metab Dis. 1995;18(1):85-6. doi: 10.1007/BF00711383.

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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
Dihydropyrimidine dehydrogenase deficiency presenting at birth.
J Inherit Metab Dis. 2005;28(5):793-6. doi: 10.1007/s10545-005-4218-0.
3
Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity.人类二氢嘧啶脱氢酶缺乏症与5-氟尿嘧啶毒性的分子基础。

本文引用的文献

1
Linear relationship between the R- and S-enantiomers of a beta-aminoisobutyric acid in human urine.人尿中β-氨基异丁酸R-和S-对映体之间的线性关系。
Clin Chim Acta. 1981 Nov 11;116(3):261-7. doi: 10.1016/0009-8981(81)90045-0.
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.
J Clin Invest. 1996 Aug 1;98(3):610-5. doi: 10.1172/JCI118830.
4
A new case of dihydropyrimidine dehydrogenase deficiency.
J Inherit Metab Dis. 1990;13(1):121-4. doi: 10.1007/BF01799339.
5
Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism.
J Inherit Metab Dis. 1991;14(3):367-70. doi: 10.1007/BF01811705.
Biochim Biophys Acta. 1980 Dec 15;633(3):400-9. doi: 10.1016/0304-4165(80)90198-1.
4
Reduction of thymine by leukocytes.白细胞对胸腺嘧啶的还原作用。
Biochem Genet. 1968 Jun;2(1):93-9. doi: 10.1007/BF01458454.
5
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.
6
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.用于嘌呤和嘧啶代谢紊乱筛查的二维薄层色谱法。
Clin Chim Acta. 1978 May 16;86(1):7-20. doi: 10.1016/0009-8981(78)90452-7.