Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches

Abstract excerpt

OBJECTIVES: This study reported the clinical prenatal diagnosis experience of families affected by methylmalonic acidemia (MMA) evaluated at a single prenatal diagnosis center over 8 years, and the reliability of a biochemical approach for prenatal diagnosis was analyzed. METHODS: Prenatal diagnosis data for 187 MMA families referred to our center from 2009 to 2016 were reviewed retrospectively. The results of...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Enzymes and Metabolism
• Share to Folate and B Vitamins Research
• Share to Metabolism and Genetic Disorders