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Autor:
Eric W. Klee, Eva Morava, Rodrigo Tzovenos Starosta, Laura Rust, Wasantha Ranatunga, Alejandro Ferrer, Dani Ungar, Myra J. Wick, Tamas Kozicz
Publikováno v:
Molecular Genetics and Metabolism. 131:424-429
Introduction Congenital disorders of glycosylation (CDG) are inborn errors of glycan metabolism with high clinical variability. Only a few antenatal cases have been described with CDG. Due to a lack of reliable biomarker, prenatal CDG diagnostics rel