Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

Nurulamin Abu Bakar, Nicol C Voermans, Thorsten Marquardt, Christian Thiel, Mirian C H Janssen, Hana Hansikova, Ellen Crushell, Jolanta Sykut-Cegielska, Francis Bowling, Lars MØrkrid, John Vissing, Eva Morava, Monique van Scherpenzeel, Dirk J Lefeber