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Methylmalonate excretion in a pregnancy at risk for methylmalonic acidaemia.

作者信息

Bakker H D, van Gennip A H, Duran M, Wadman S K

出版信息

Clin Chim Acta. 1978 Jun 15;86(3):349-52. doi: 10.1016/0009-8981(78)90392-3.

DOI:10.1016/0009-8981(78)90392-3
PMID:668126
Abstract

In a pregnant woman, who had given birth to a child with methylmalonic acidaemia previously, urinary methylmalonate was measured at various intervals in the second half of the pregnancy. A significant increase was observed towards term. The child proved to be affected. This procedure enabled the detection of an affected fetus in the third trimester of pregnancy. If a case of methylmalonic acidaemia is detected in this way, treatment can be started immediately after birth.

摘要

相似文献

1
Methylmalonate excretion in a pregnancy at risk for methylmalonic acidaemia.
Clin Chim Acta. 1978 Jun 15;86(3):349-52. doi: 10.1016/0009-8981(78)90392-3.
2
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引用本文的文献

1
Prenatal diagnosis and therapy for a patient with vitamin B12-responsive methylmalonic acidaemia.一名维生素B12反应性甲基丙二酸血症患者的产前诊断与治疗
J Inherit Metab Dis. 1995;18(3):295-8. doi: 10.1007/BF00710418.
2
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.
3
Prenatal diagnosis of the organic acidurias.有机酸尿症的产前诊断。
J Inherit Metab Dis. 1984;7 Suppl 1:18-22. doi: 10.1007/BF03047368.