Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria.
作者信息
Ohba S, Kidouchi K, Toyama J, Oda T, Tsuboi T, Ichiki T, Sobajima H, Sugiyama N, Morishita H, Købayashi M
机构信息
Department of Pediatrics, Nagoya City University Medical School, Japan.
出版信息
J Inherit Metab Dis. 1993;16(5):872-5. doi: 10.1007/BF00714281.
PMID:8295404
Abstract
摘要
相似文献
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Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria.羊水嘧啶的定量分析用于遗传性乳清酸尿症的产前诊断。
J Inherit Metab Dis. 1993;16(5):872-5. doi: 10.1007/BF00714281.
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Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms.伴有神经症状的遗传性乳清酸尿症杂合子。
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Absence of immune deficiency in hereditary orotic aciduria.遗传性乳清酸尿症不存在免疫缺陷。
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本文引用的文献
1
Neonatal diagnosis of orotic aciduria: an experience with one family.乳清酸尿症的新生儿诊断：一个家庭的经验
J Pediatr. 1983 Jan;102(1):85-8. doi: 10.1016/s0022-3476(83)80296-0.
2
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.
3
Automated determination of orotic acid, uracil and pseudouridine in urine by high-performance liquid chromatography with column switching.
J Chromatogr. 1991 Aug 23;568(2):325-32. doi: 10.1016/0378-4347(91)80170-h.
4
Automated quantitative analysis for orotidine and uridine/thymine in urine by high-performance liquid chromatography with column switching.
Adv Exp Med Biol. 1991;309B:31-4. doi: 10.1007/978-1-4615-7703-4_7.
5
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.
6
Orotate phosphoribosyltransferase: orotidylate decarboxylase (Ehrlich ascites cell).乳清酸磷酸核糖基转移酶：乳清酸脱羧酶（艾氏腹水癌细胞）
Methods Enzymol. 1978;51:155-67. doi: 10.1016/s0076-6879(78)51023-9.
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