Literature DB >> 2323072

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

M Coude1, B Chadefaux, D Rabier, P Kamoun.   

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.

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Year:  1990        PMID: 2323072     DOI: 10.1016/0009-8981(90)90118-c

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN: 0009-8981            Impact factor:   3.786


  4 in total

1.  Assessment of an electron-impact GC-MS method for organic acids and glycine conjugates in amniotic fluid.

Authors:  A Kumps; E Vamos; Y Mardens; M Abramowicz; J Genin; P Duez
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

Review 2.  Prenatal diagnosis of inherited metabolic diseases.

Authors:  R Diukman; J D Goldberg
Journal:  West J Med       Date:  1993-09

3.  Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia.

Authors:  J L Van Hove; D H Chace; S G Kahler; D S Millington
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.

Authors:  Randy J Chandler; Charles P Venditti
Journal:  Hum Gene Ther       Date:  2008-01       Impact factor: 5.695

  4 in total

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