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Prenatal diagnosis of propionic and methylmalonic acidaemia by stable isotope dilution analysis of amniotic fluid.

作者信息

Holm J, Ponders L, Sweetman L

机构信息

Department of Pediatrics, University of California San Diego, La Jolla 92093.

出版信息

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

DOI:10.1007/BF03335395
PMID:2512423
Abstract
摘要

相似文献

1
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.
2
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。
Pediatr Res. 1982 Sep;16(9):740-5. doi: 10.1203/00006450-198209000-00007.
3
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.
4
Methylcitric acid determination in amniotic fluid by electron-impact mass fragmentography.通过电子轰击质谱碎片分析法测定羊水中的甲基柠檬酸
J Clin Chem Clin Biochem. 1988 May;26(5):345-8. doi: 10.1515/cclm.1988.26.5.345.
5
Prenatal diagnosis of methylmalonic aciduria by measuring methylmalonic acid in dried amniotic fluid on filter paper using gas chromatography-mass spectrometry.应用气相色谱-质谱联用技术检测滤纸干血斑中甲基丙二酸对胎儿甲基丙二酸血症进行产前诊断。
Anal Bioanal Chem. 2011 Jun;400(7):1953-8. doi: 10.1007/s00216-011-4805-x. Epub 2011 Mar 1.
6
Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS.通过气相色谱-质谱联用仪（GC/MS）测定滤纸上干燥羊水样本中的甲基柠檬酸对丙酸血症进行产前诊断。
J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Jul 15;870(2):160-3. doi: 10.1016/j.jchromb.2008.02.022. Epub 2008 Mar 4.
7
Improved prenatal diagnosis of methylmalonic acidemia: mass fragmentography of methylmalonic acid in amniotic fluid and maternal urine.甲基丙二酸血症产前诊断的改进：羊水和母体尿液中甲基丙二酸的质量碎片分析法
Eur J Pediatr. 1981 Nov;137(3):261-6. doi: 10.1007/BF00443254.
8
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。
Prenat Diagn. 1991 Sep;11(9):691-6. doi: 10.1002/pd.1970110905.
9
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.
10
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。
J Inherit Metab Dis. 1989;12(1):86-8. doi: 10.1007/BF01805535.

引用本文的文献

1
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.
2
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.
3
Prenatal diagnosis of inherited metabolic diseases.遗传性代谢疾病的产前诊断

本文引用的文献

1
Improved prenatal diagnosis of methylmalonic acidemia: mass fragmentography of methylmalonic acid in amniotic fluid and maternal urine.甲基丙二酸血症产前诊断的改进：羊水和母体尿液中甲基丙二酸的质量碎片分析法
Eur J Pediatr. 1981 Nov;137(3):261-6. doi: 10.1007/BF00443254.
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.
3
The stable isotope dilution method for measurement of methylmalonic acid: a highly accurate approach to the prenatal diagnosis of methylmalonic acidemia.
West J Med. 1993 Sep;159(3):374-81.
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。
Pediatr Res. 1982 Sep;16(9):740-5. doi: 10.1203/00006450-198209000-00007.
4
First-trimester (chorion biopsy) diagnosis of citrullinaemia and methylmalonicaciduria.妊娠早期（绒毛膜活检）对瓜氨酸血症和甲基丙二酸尿症的诊断。
Lancet. 1984 Dec 8;2(8415):1340. doi: 10.1016/s0140-6736(84)90848-1.