Article
Prenatal diagnosis of propionic acidemia.
Prenatal diagnosis - 15 Dec 2004
Pérez-Cerdá C, Pérez B, Merinero B, Desviat L R, Rodríguez-Pombo P, Ugarte M
Abstract excerpt
In this report we summarize our experience in prenatal diagnosis of propionic acidemia (PA) since 1987. Overall, we have investigated 25 pregnancies at risk from 19 unrelated families. Until genetic structure of the genes involved in PA was elucidated, prenatal diagnosis has been successfully per...
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