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The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency.

作者信息

Jakobs C, Stellaard F, Smit L M, van Vugt J M, Duran M, Berger R, Rovers P

出版信息

Eur J Pediatr. 1991 Feb;150(4):291. doi: 10.1007/BF01955535.

DOI:10.1007/BF01955535
PMID:2029924
Abstract
摘要

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1
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2
Clinical and biochemical findings in six patients with pyrimidine degradation defects.
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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
Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid.羊水中叶酸和尿嘧啶的稳定同位素稀释分析。
Clin Chim Acta. 1984 Nov 15;143(2):123-33. doi: 10.1016/0009-8981(84)90220-1.
4
Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: facts and future.
Prenat Diagn. 1990 Apr;10(4):265-71. doi: 10.1002/pd.1970100410.
5
A new case of dihydropyrimidine dehydrogenase deficiency.
J Inherit Metab Dis. 1990;13(1):121-4. doi: 10.1007/BF01799339.