Search Results - Grünewald, Stephanie

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up, and management by Altassan, Ruqaiah (Author) , Radenkovic, Silvia (Author) , Edmondson, Andrew C. (Author) , Barone, Rita (Author) , Brasil, Sandra (Author) , Cechova, Anna (Author) , Coman, David (Author) , Donoghue, Sarah (Author) , Falkenstein, Kristina (Author) , Ferreira, Vanessa (Author) , Ferreira, Carlos (Author) , Fiumara, Agata (Author) , Francisco, Rita (Author) , Freeze, Hudson (Author) , Grunewald, Stephanie (Author) , Honzik, Tomas (Author) , Jaeken, Jaak (Author) , Krasnewich, Donna (Author) , Lam, Christina (Author) , Lee, Joy (Author) , Lefeber, Dirk (Author) , Marques-da-Silva, Dorinda (Author) , Pascoal, Carlota (Author) , Quelhas, Dulce (Author) , Raymond, Kimiyo M. (Author) , Rymen, Daisy (Author) , Seroczynska, Malgorzata (Author) , Serrano, Mercedes (Author) , Sykut-Cegielska, Jolanta (Author) , Thiel, Christian (Author) , Tort, Frederic (Author) , Vals, Mari-Anne (Author) , Videira, Paula (Author) , Voermans, Nicol (Author) , Witters, Peter (Author) , Morava, Eva (Author) ,

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Clinical presentation and outcome in a series of 88 patients with the cblC defect by Knauer-Fischer, Sabine (Author) , Huemer, Martina (Author) , Baumgartner, Matthias (Author) , Deodato, Federica (Author) , Ballhausen, Diana (Author) , Boneh, Avihu (Author) , Burlina, Alberto (Author) , Cerone, Roberto (Author) , Garcia, Paula (Author) , Gökçay, Gülden (Author) , Grünewald, Stephanie (Author) , Häberle, Johannes (Author) , Jaeken, Jaak (Author) , Ketteridge, David (Author) , Lindner, Martin (Author) , Mandel, Hanna (Author) , Martinelli, Diego (Author) , Martins, Esmeralda G. (Author) , Schwab, Karl O. (Author) , Gruenert, Sarah C. (Author) , Schwahn, Bernd C. (Author) , Sztriha, László (Author) , Tomaske, Maren (Author) , Trefz, Friedrich (Author) , Vilarinho, Laura (Author) , Rosenblatt, David S. (Author) , Fowler, Brian (Author) , Dionisi‐Vici, Carlo (Author) ,

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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder by Leen, Wilhelmina (Author) , Klepper, Joerg (Author) , Verbeek, Marcel M. (Author) , Leferink, Maike (Author) , Hofste, Tom (Author) , van Engelen, Baziel G. (Author) , Wevers, Ron A. (Author) , Arthur, Todd (Author) , Bahi-Buisson, Nadia (Author) , Ballhausen, Diana (Author) , Bekhof, Jolita (Author) , van Bogaert, Patrick (Author) , Carrilho, Inês (Author) , Chabrol, Brigitte (Author) , Champion, Michael P. (Author) , Coldwell, James (Author) , Clayton, Peter (Author) , Donner, Elizabeth (Author) , Evangeliou, Athanasios (Author) , Ebinger, Friedrich (Author) , Farrell, Kevin (Author) , Forsyth, Rob J. (Author) , de Goede, Christian G. E. L. (Author) , Gross, Stephanie (Author) , Grunewald, Stephanie (Author) , Holthausen, Hans (Author) , Jayawant, Sandeep (Author) , Lachlan, Katherine (Author) , Laugel, Vincent (Author) , Leppig, Kathy (Author) , Lim, Ming J. (Author) , Mancini, Grazia (Author) , Marina, Adela Della (Author) , Martorell, Loreto (Author) , McMenamin, Joe (Author) , Meuwissen, Marije E. C. (Author) , Mundy, Helen (Author) , Nilsson, Nils O. (Author) , Panzer, Axel (Author) , Poll-The, Bwee T. (Author) , Rauscher, Christian (Author) , Rouselle, Christophe M. R. (Author) , Sandvig, Inger (Author) , Scheffner, Thomas (Author) , Sheridan, Eamonn (Author) , Simpson, Neil (Author) , Sykora, Parol (Author) , Tomlinson, Richard (Author) , Trounce, John (Author) , Webb, David (Author) , Weschke, Bernhard (Author) , Scheffer, Hans (Author) , Willemsen, Michél A. (Author) ,

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