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有机酸血症产前诊断中的早期羊膜腔穿刺术与羊水有机酸水平

Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias.

作者信息

Coude M, Chadefaux B, Rabier D, Kamoun P

机构信息

Laboratoire de Biochimie Médicale B, Hôpital Necker Enfants Malades, Paris, France.

出版信息

Clin Chim Acta. 1990 Mar 15;187(3):329-32. doi: 10.1016/0009-8981(90)90118-c.

DOI:10.1016/0009-8981(90)90118-c
PMID:2323072
Abstract

Organic acids were studied in amniotic fluids taken by early amniocentesis between 6 to 12 weeks in control pregnancies. The prenatal diagnosis of methylmalonic acidemia and propionic acidemia could be made by the measurement of methylmalonic and methylcitric acid respectively in the amniotic fluid taken simultaneously with chorionic villi at the 11th week of gestation.

摘要

对处于对照孕期的孕妇,在妊娠6至12周时通过早期羊膜腔穿刺采集的羊水进行有机酸研究。在妊娠第11周采集绒毛膜绒毛的同时采集羊水,分别测定其中的甲基丙二酸和甲基柠檬酸,可对甲基丙二酸血症和丙酸血症进行产前诊断。

相似文献

1
Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias.有机酸血症产前诊断中的早期羊膜腔穿刺术与羊水有机酸水平
Clin Chim Acta. 1990 Mar 15;187(3):329-32. doi: 10.1016/0009-8981(90)90118-c.
2
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。
Clin Chim Acta. 1980 Nov 6;107(3):175-83. doi: 10.1016/0009-8981(80)90445-3.
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Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines.基于羊水酰基肉碱水平的有机酸血症产前诊断
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Gestational age-related reference values for amniotic fluid organic acids.羊水有机酸酸度与胎龄相关的参考值。
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Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: facts and future.
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The relationship between maternal serum and amniotic fluid alpha-fetoprotein in women undergoing early amniocentesis.接受早期羊膜腔穿刺术的女性母体血清与羊水甲胎蛋白之间的关系。
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Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid.通过分析羊水有机成分和总同型半胱氨酸对甲基丙二酸尿症进行产前诊断。
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Eleventh week amniocentesis for prenatal diagnosis of some metabolic diseases.用于某些代谢性疾病产前诊断的孕11周羊膜腔穿刺术。
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[Biochemical analysis of the amniotic fluid in early amniocentesis. Importance of alpha-fetoproteins].[早期羊膜腔穿刺术中羊水的生化分析。甲胎蛋白的重要性]
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Obstet Gynecol. 1986 Jan;67(1):44-6.

引用本文的文献

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Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.腺病毒介导的基因传递挽救了mut(0)甲基丙二酸血症的新生儿致死性小鼠模型。
Hum Gene Ther. 2008 Jan;19(1):53-60. doi: 10.1089/hum.2007.0118.
2
Assessment of an electron-impact GC-MS method for organic acids and glycine conjugates in amniotic fluid.羊水有机酸和甘氨酸共轭物的电子轰击气相色谱-质谱联用方法评估
J Inherit Metab Dis. 2004;27(5):567-79. doi: 10.1023/b:boli.0000042981.52186.a9.
3
Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia.
羊水酰基肉碱:在丙酸血症产前诊断中的应用
J Inherit Metab Dis. 1993;16(2):361-7. doi: 10.1007/BF00710283.
4
Prenatal diagnosis of inherited metabolic diseases.遗传性代谢疾病的产前诊断
West J Med. 1993 Sep;159(3):374-81.