对有丙酸血症风险的妊娠进行成功的孕早期诊断。 - Suppr

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超能文献

Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia.

作者信息

Pérez-Cerdá C, Merinero B, Sanz P, Jiménez A, García M J, Urbón A, Díaz Recasens J, Ramos C, Ayuso C, Ugarte M

机构信息

Centro de Diagnóstico de Enfermedades Moleculares, Universidad Autónoma, Madrid, Spain.

出版信息

J Inherit Metab Dis. 1989;12 Suppl 2:274-6. doi: 10.1007/BF03335396.

DOI:10.1007/BF03335396

PMID:2512424

Abstract

摘要

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Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia.对有丙酸血症风险的妊娠进行成功的孕早期诊断。

J Inherit Metab Dis. 1989;12 Suppl 2:274-6. doi: 10.1007/BF03335396.

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。

J Inherit Metab Dis. 1990;13(3):345-8. doi: 10.1007/BF01799391.

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。

J Inherit Metab Dis. 1989;12 Suppl 2:271-3. doi: 10.1007/BF03335395.

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

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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。

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Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia.患有丙酸血症胎儿的孕期母体尿液中的甲基柠檬酸盐。

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First trimester prenatal diagnosis of Wolman disease.沃尔曼病的孕早期产前诊断。

J Inherit Metab Dis. 1989;12 Suppl 2:299-300. doi: 10.1007/BF03335404.

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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Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.高鸟氨酸血症、高氨血症和同型瓜氨酸尿症综合征的产前诊断潜力。

Am J Med Genet. 1989 Feb;32(2):264. doi: 10.1002/ajmg.1320320228.

Antenatal diagnosis of propionic acidaemia by methylcitrate determination.通过测定甲基柠檬酸进行丙酸血症的产前诊断。

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引用本文的文献

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.药物伴侣作为甲基丙二酸血症 cblB 型的一种潜在治疗选择。

Hum Mol Genet. 2013 Sep 15;22(18):3680-9. doi: 10.1093/hmg/ddt217. Epub 2013 May 13.

Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.甲基丙二酸血症 cblB 型中鉴定的 5 种突变的功能和结构分析。

Hum Mutat. 2010 Sep;31(9):1033-42. doi: 10.1002/humu.21307.

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.丙酸血症和甲基丙二酸血症：针对导致异常剪接信使 RNA 的内含子变异的反义治疗。

Am J Hum Genet. 2007 Dec;81(6):1262-70. doi: 10.1086/522376.

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.甲基丙二酸血症：对32例属于mut、cblA或cblB互补组的患者的基因型和生化数据进行检测。

J Inherit Metab Dis. 2008 Feb;31(1):55-66. doi: 10.1007/s10545-007-0667-y. Epub 2007 Oct 22.

本文引用的文献

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.

Activity of biotin-dependent and GABA metabolizing enzymes in chorionic villus samples: potential for 1st trimester prenatal diagnosis.

Prenat Diagn. 1986 May-Jun;6(3):187-94. doi: 10.1002/pd.1970060305.

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.

Prenatal diagnosis and family studies in a case of propionicacidaemia.丙酸血症一例的产前诊断与家系研究

Clin Genet. 1975 Oct;8(4):244-50. doi: 10.1111/j.1399-0004.1975.tb01499.x.

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells.快速产前和产后检测丙酸、甲基丙二酸和钴胺素代谢的先天性代谢缺陷：一种使用培养细胞的灵敏检测方法。

Hum Genet. 1976 Dec 15;34(3):277-83. doi: 10.1007/BF00295291.

Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria.一名患有甲基巴豆酰甘氨酸尿症患者体内丙酰辅酶A羧化酶和甲基巴豆酰辅酶A羧化酶缺乏。

Clin Chim Acta. 1977 May 2;76(3):321-8. doi: 10.1016/0009-8981(77)90158-9.

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