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Prenatal diagnosis of inherited metabolic disorders by stable isotope dilution GC-MS analysis of metabolites in amniotic fluid: review of four years experience.

作者信息

Jakobs C

机构信息

Department of Pediatrics, Free University Hospital Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1989;12 Suppl 2:267-70. doi: 10.1007/BF03335394.

DOI:10.1007/BF03335394
PMID:2512422
Abstract
摘要

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1
Prenatal diagnosis of inherited metabolic disorders by stable isotope dilution GC-MS analysis of metabolites in amniotic fluid: review of four years experience.通过羊水代谢物的稳定同位素稀释气相色谱 - 质谱分析对遗传性代谢疾病进行产前诊断：四年经验回顾
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Prenatal diagnosis of propionic and methylmalonic acidaemia by stable isotope dilution analysis of amniotic fluid.通过羊水的稳定同位素稀释分析对丙酸血症和甲基丙二酸血症进行产前诊断。
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Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment.使用稳定同位素稀释气相色谱-质谱联用技术及脲酶预处理进行丙酸血症产前诊断的快速灵敏方法
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The stable isotope dilution method for measurement of methylmalonic acid: a highly accurate approach to the prenatal diagnosis of methylmalonic acidemia.用于测量甲基丙二酸的稳定同位素稀释法：一种用于甲基丙二酸血症产前诊断的高度准确的方法。
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6
Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia.羊水甲基柠檬酸的同位素稀释分析法用于丙酸血症和甲基丙二酸血症的产前诊断。
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Inherited metabolic disorders.遗传性代谢紊乱
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[Prenatal amniotic fluid examination for congenital disorders].[先天性疾病的产前羊水检查]
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Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.羊水3-羟基异戊酸的稳定同位素稀释分析：对亮氨酸分解代谢遗传性疾病产前诊断的贡献
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J Inherit Metab Dis. 2016 Sep;39(5):611-624. doi: 10.1007/s10545-016-9947-8. Epub 2016 Jul 8.
2
Glutaric aciduria type I: pathomechanisms of neurodegeneration.
J Inherit Metab Dis. 1999 Jun;22(4):392-403. doi: 10.1023/a:1005595921323.
3
Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?
Eur J Pediatr. 1996 May;155(5):398-403. doi: 10.1007/BF01955272.
4

本文引用的文献

1
Antenatal diagnosis of glutaric acidemia.戊二酸血症的产前诊断
Am J Hum Genet. 1980 Sep;32(5):695-9.
2
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid.通过对羊水二羧酸进行直接化学分析对II型戊二酸尿症进行产前诊断。
Eur J Pediatr. 1984 Jan;141(3):153-7. doi: 10.1007/BF00443213.
3
Prenatal diagnosis of the organic acidurias.有机酸尿症的产前诊断。
A clinical biochemist's view of the investigation of suspected inherited metabolic disease.临床生物化学家对疑似遗传性代谢疾病调查的看法。
J Inherit Metab Dis. 1989;12 Suppl 1:64-88. doi: 10.1007/978-94-009-1069-0_7.
J Inherit Metab Dis. 1984;7 Suppl 1:18-22. doi: 10.1007/BF03047368.
4
Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia.羊水半乳糖醇的稳定同位素稀释分析：一种准确的半乳糖血症产前诊断方法。
Pediatr Res. 1984 Aug;18(8):714-8. doi: 10.1203/00006450-198408000-00007.
5
Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.
Eur J Pediatr. 1986 Apr;144(6):597-8. doi: 10.1007/BF00496047.
6
Stable isotope dilution analysis of isovalerylglycine in amniotic fluid and urine and its application for the prenatal diagnosis of isovaleric acidemia.羊水和尿液中异戊酰甘氨酸的稳定同位素稀释分析及其在异戊酸血症产前诊断中的应用。
Pediatr Res. 1986 Mar;20(3):222-6. doi: 10.1203/00006450-198603000-00005.
7
Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I.
Clin Chim Acta. 1988 Feb 15;171(2-3):223-31. doi: 10.1016/0009-8981(88)90147-7.
8
Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosaemia.限制母体乳糖摄入量并不能防止半乳糖血症胎儿羊水内半乳糖醇的蓄积。
Prenat Diagn. 1988 Nov;8(9):641-5. doi: 10.1002/pd.1970080903.
9
First trimester diagnosis of methylmalonic aciduria.孕早期甲基丙二酸血症的诊断
Prenat Diagn. 1988 Mar;8(3):207-13. doi: 10.1002/pd.1970080307.