Limitations of galactose therapy in phosphoglucomutase 1 deficiency

Por Nolting, Kristine, Park, Julien H., Tegtmeyer, Laura C., Zühlsdorf, Andrea, Grüneberg, Marianne, Rust, Stephan, Reunert, Janine, Du Chesne, Ingrid, Debus, Volker, Schulze-Bahr, Eric, Baxter, Robert C., Wada, Yoshinao, Thiel, Christian, van Schaftingen, Emile, Fingerhut, Ralph, Marquardt, Thorsten
Publicado no Mol Genet Metab Rep (2017)

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Por Park, Julien H., Hogrebe, Max, Grüneberg, Marianne, DuChesne, Ingrid, von der Heiden, Ava L., Reunert, Janine, Schlingmann, Karl P., Boycott, Kym M., Beaulieu, Chandree L., Mhanni, Aziz A., Innes, A. Micheil, Hörtnagel, Konstanze, Biskup, Saskia, Gleixner, Eva M., Kurlemann, Gerhard, Fiedler, Barbara, Omran, Heymut, Rutsch, Frank, Wada, Yoshinao, Tsiakas, Konstantinos, Santer, René, Nebert, Daniel W., Rust, Stephan, Marquardt, Thorsten
Publicado no Am J Hum Genet (2015)

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

Por Rujano, Maria A., Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H., Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M., Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J., Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D., Raskind, Wendy H., Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias
Publicado no J Exp Med (2017)