Article

Prenatal Diagnosis of Isovaleric Acidemia from Amniotic Fluid Using Genetic and Biochemical Approaches

2022-01-17

Abstract excerpt

<title>Abstract</title> <p><bold>Background：</bold>Isovaleric acidemia (IVA) is an inborn error of leucine metabolism and different approaches have been applied to its prenatal diagnosis. However, systemic application of a biochemical strategy is rare. To evaluate its reliability and validity, we conducted a retrospective study of our experience with metabolite measurement together with genetic analysis in IVA pr...

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Literature Corpus work: 66eb8846-acb3-58cb-9f94-30ae4963f44c
DOI: 10.21203/rs.3.rs-1242418/v1

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