Prenatal diagnosis of pyruvate carboxyla
โ
R. N. Van Coster; S. Janssens; J.-P. Misson; A. Verloes; J. G. Leroy
๐
Article
๐
1998
๐
John Wiley and Sons
๐
English
โ 109 KB
Pyruvate carboxylase (PC) deficiency is a rare metabolic disorder in infants and children, most frequently with fatal outcome. Its prenatal diagnosis by radiometric assay in cultured amniocytes has previously been reported. We present and discuss the prenatal diagnosis of PC deficiency by direct mea