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Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase
Author(s) -
Chadefaux B.,
Augereau C.,
Rabier D.,
Rocchiccioli F.,
Boué J.,
Oury J. F.,
Kamoun P.
Publication year - 1988
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970080211
Subject(s) - prenatal diagnosis , propionic acidemia , chorionic villi , medicine , obstetrics , pregnancy , fetus , endocrinology , biology , genetics
Prenatal diagnosis of propionic acidemia was achieved by the direct assay of propionyl CoA carboxylase in chorionic villi. The diagnosis was confirmed by determination of methylcitrate in amniotic fluid and measurement of propionyl CoA carboxylase in the liver from the abortion. Discrepancy between [ 14 C]‐propionate incorporation into protein of chorionic villi or cultured chorionic cells and propionyl CoA carboxylase activity is reported.