Multiple phenotypes in phosphoglucomutase 1 deficiency

L. C. Tegtmeyer, S. Rust, M. Van Scherpenzeel, B. G. Ng, M. E. Losfeld, S. Timal, K. Raymond, P. He, M. Ichikawa, J. Veltman, K. Huijben, Y. S. Shin, V. Sharma, M. Adamowicz, M. Lammens, J. Reunert, A. Witten, E. Schrapers, G. Matthijs, J. JaekenD. Rymen, T. Stojkovic, P. Laforêt, F. Petit, O. Aumaître, E. Czarnowska, M. Piraud, T. Podskarbi, C. A. Stanley, R. Matalon, P. Burda, S. Seyyedi, V. Debus, P. Socha, J. Sykut-Cegielska, F. Van Spronsen, L. De Meirleir, P. Vajro, T. DeClue, C. Ficicioglu, Y. Wada, R. A. Wevers, D. Vanderschaeghe, N. Callewaert, R. Fingerhut, E. Van Schaftingen, H. H. Freeze, E. Morava, D. J. Lefeber, T. Marquardt

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Biochemistry, Genetics and Molecular Biology