Publication
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
Charles A. Stanley, Reuben Matalon, Patricie Burda, Soraya Seyyedi, Volker Debus, Piotr Socha, Jolanta Sykut-Cegielska, Francjan van Spronsen, Linda de Meirleir, Pietro Vajro, Terry DeClue, Can Ficicioglu, Yoshinao Wada, Ron A. Wevers, Dieter Vanderschaeghe, Nico Callewaert, Ralph Fingerhut, Emile van Schaftingen, Hudson H. Freeze, Eva Morava, Dirk J. Lefeber, Thorsten Marquardt, Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, Bobby G. Ng, Marie-Estelle Losfeld, Sharita Timal, Kimiyo Raymond, Ping He, Mie Ichikawa, Joris Veltman, Karin Huijben, Yoon S. Shin, Vandana Sharma, Maciej Adamowicz, Martin Lammens, Janine Reunert, Anika Witten, Esther Schrapers, Gert Matthijs, Jaak Jaeken, Daisy Rymen, Tanya Stojkovic, Pascal Laforêt, François Petit, Olivier Aumaître, Elzbieta Czarnowska, Monique Piraud, Teodor Podskarbi
New England Journal of Medicine, February 2014, New England Journal of Medicine (NEJM/MMS)
DOI: 10.1056/nejmoa1206605