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Urinary uracil concentrations are a useful guide to genetic disorders associated with neurological deficits and abnormal pyrimidine metabolism.

作者信息

Davies P M, Fairbanks L D, Duley J A, Simmonds H A

机构信息

Purine Research Laboratories, UMDS Guy's Hospital, UK.

出版信息

J Inherit Metab Dis. 1997 Jul;20(3):328-30. doi: 10.1023/a:1005332606213.

DOI:10.1023/a:1005332606213
PMID:9266347
Abstract
摘要

相似文献

1
Urinary uracil concentrations are a useful guide to genetic disorders associated with neurological deficits and abnormal pyrimidine metabolism.
J Inherit Metab Dis. 1997 Jul;20(3):328-30. doi: 10.1023/a:1005332606213.
2
Urinary excretion of purine and pyrimidine metabolites in the neonate.
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3
Urinary screening for pyrimidine metabolism disorders. Reference ranges for dihydrouracil, uracil, and dihydrouracil/uracil ratio.
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Heterogeneity of symptomatology in two male siblings with thymine uraciluria.
J Inherit Metab Dis. 1995;18(1):85-6. doi: 10.1007/BF00711383.
5
Dihydropyrimidine dehydrogenase deficiency in a Hutterite newborn.
Adv Exp Med Biol. 1991;309B:311-4. doi: 10.1007/978-1-4615-7703-4_69.
6
Reference values of orotic acid, uracil and pseudouridine in urine.
Adv Exp Med Biol. 1991;309B:27-30. doi: 10.1007/978-1-4615-7703-4_6.
7
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.
8
[Familial genetic studies in neuroarthritic diathesis in children].
Pediatriia. 1980 Feb(2):47-50.
9
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J Inherit Metab Dis. 1991;14(3):367-70. doi: 10.1007/BF01811705.
10
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency.良性持续性乳清酸尿症及鸟氨酸氨甲酰基转移酶缺乏症误诊的可能性。
J Inherit Metab Dis. 1997 Jul;20(3):354-8. doi: 10.1023/a:1005369726686.

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The Use of Gas Chromatography Coupled with High-Resolution Mass Spectrometry-Based Untargeted Metabolomics to Discover Metabolic Changes and Help in the Determination of Complex Causes of Death: A Preliminary Study.利用气相色谱联用基于高分辨率质谱的非靶向代谢组学发现代谢变化并辅助确定复杂死因：一项初步研究。
ACS Omega. 2021 Jan 14;6(3):2100-2109. doi: 10.1021/acsomega.0c05178. eCollection 2021 Jan 26.
2
Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry.采用高压液相色谱-电喷雾电离串联质谱法对450名有非特异性神经症状的儿童进行嘧啶代谢的综合分析。
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本文引用的文献

1
Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation.
Clin Chem. 1993 Mar;39(3):380-5.
2
The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk.
Clin Chim Acta. 1994 Jan 14;224(1):45-54. doi: 10.1016/0009-8981(94)90119-8.
3
Urinary excretion of purine and pyrimidine metabolites in the neonate.
Pediatr Res. 1993 Dec;34(6):762-6. doi: 10.1203/00006450-199312000-00012.
4
Urinary purines and pyrimidines in patients with hyperammonemia of various origins.
Clin Chim Acta. 1980 Jun 10;104(2):227-39. doi: 10.1016/0009-8981(80)90200-4.
5
Use of biological fluids for the rapid diagnosis of potentially lethal inherited disorders of human purine and pyrimidine metabolism.利用生物体液快速诊断人类嘌呤和嘧啶代谢中潜在的致死性遗传性疾病。
Biomed Chromatogr. 1986 Jun;1(3):109-18. doi: 10.1002/bmc.1130010305.
6
Reference values of orotic acid, uracil and pseudouridine in urine.
Adv Exp Med Biol. 1991;309B:27-30. doi: 10.1007/978-1-4615-7703-4_6.
7
Ornithine carbamoyltransferase deficiency with subnormal enzyme activity.
J Inherit Metab Dis. 1991;14(5):842-3. doi: 10.1007/BF01799965.