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通过直接检测丙酰辅酶A羧化酶对绒毛膜绒毛进行丙酸血症的产前诊断。

Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.

作者信息

Chadefaux B, Augereau C, Rabier D, Rocchiccioli F, Boué J, Oury J F, Kamoun P

机构信息

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

出版信息

Prenat Diagn. 1988 Feb;8(2):161-4. doi: 10.1002/pd.1970080211.

DOI:10.1002/pd.1970080211
PMID:3362779
Abstract

Prenatal diagnosis of propionic acidemia was achieved by the direct assay of propionyl CoA carboxylase in chorionic villi. The diagnosis was confirmed by determination of methylcitrate in amniotic fluid and measurement of propionyl CoA carboxylase in the liver from the abortion. Discrepancy between [14C]-propionate incorporation into protein of chorionic villi or cultured chorionic cells and propionyl CoA carboxylase activity is reported.

摘要

通过直接检测绒毛膜绒毛中的丙酰辅酶A羧化酶实现了丙酸血症的产前诊断。通过测定羊水柠檬酸甲酯以及测量流产胎儿肝脏中的丙酰辅酶A羧化酶来确诊。本文报道了[14C] - 丙酸盐掺入绒毛膜绒毛或培养的绒毛膜细胞蛋白质中的情况与丙酰辅酶A羧化酶活性之间的差异。

相似文献

1
Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.通过直接检测丙酰辅酶A羧化酶对绒毛膜绒毛进行丙酸血症的产前诊断。
Prenat Diagn. 1988 Feb;8(2):161-4. doi: 10.1002/pd.1970080211.
2
Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid.通过同时采集绒毛膜绒毛和羊水进行丙酸血症的早期产前诊断。
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Prenatal diagnosis of propionic acidemia.丙酸血症的产前诊断。
Prenat Diagn. 2004 Dec 15;24(12):962-4. doi: 10.1002/pd.1057.
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Prenatal diagnosis of propionic acidemia.丙酸血症的产前诊断
JAMA. 1979 Sep 7;242(10):1048-52.
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Measurement of 3-hydroxy-3-methylglutaryl-CoA lyase activity in amniotic cells and in chorionic villi.
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Prenatal diagnosis of propionic acidemia: amniocentesis at the 11th week of pregnancy.
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Propionic acidaemia presenting with pancytopaenia in infancy.婴儿期丙酸血症伴全血细胞减少症
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[Propionic acidemia: report of a case that is successfully managed by peritoneal dialysis and sodium benzoate therapy].[丙酸血症：一例经腹膜透析和苯甲酸钠治疗成功管理的病例报告]
Zhonghua Yi Xue Za Zhi (Taipei). 1990 Nov;46(5):306-10.
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The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.发根中丙酰辅酶A羧化酶和丙酮酸羧化酶活性的测定：其在遗传性生物素依赖性酶缺乏症诊断中的应用。
Clin Chim Acta. 1983 May 9;130(1):25-30. doi: 10.1016/0009-8981(83)90255-3.
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Propionic acidemia--biochemical studies.
Isr J Med Sci. 1989 Feb;25(2):103-6.

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In vivo propionate oxidation as a prognostic indicator in disorders of propionate metabolism.
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