Treatment Options in Congenital Disorders of Glycosylation

por Park, Julien H., Marquardt, Thorsten
Publicado 2021

Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine

por Linden, Simone, Klank, Sabrina, Harms, Erik, Grüneberg, Marianne, Park, Julien H., Marquardt, Thorsten
Publicado 2020

Mannose supplementation in PMM2-CDG

por Taday, Roman, Park, Julien H., Grüneberg, Marianne, DuChesne, Ingrid, Reunert, Janine, Marquardt, Thorsten
Publicado 2021

Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins

por Kunzelmann, Karl, Ousingsawat, Jiraporn, Kraus, Andre, Park, Julien H., Marquardt, Thorsten, Schreiber, Rainer, Buchholz, Björn
Publicado 2023

L-Fucose treatment of FUT8-CDG

por Park, Julien H., Reunert, Janine, He, Miao, Mealer, Robert G., Noel, Maxence, Wada, Yoshinao, Grüneberg, Marianne, Horváth, Judit, Cummings, Richard D., Schwartz, Oliver, Marquardt, Thorsten
Publicado 2020

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 2017

The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation

por Mealer, Robert G., Jenkins, Bruce G., Chen, Chia-Yen, Daly, Mark J., Ge, Tian, Lehoux, Sylvain, Marquardt, Thorsten, Palmer, Christopher D., Park, Julien H., Parsons, Patrick J., Sackstein, Robert, Williams, Sarah E., Cummings, Richard D., Scolnick, Edward M., Smoller, Jordan W.
Publicado 2020

The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1

por Park, Julien H, Nordström, Ulrika, Tsiakas, Konstantinos, Keskin, Isil, Elpers, Christiane, Mannil, Manoj, Heller, Raoul, Nolan, Melinda, Alburaiky, Salam, Zetterström, Per, Hempel, Maja, Schara-Schmidt, Ulrike, Biskup, Saskia, Steinacker, Petra, Otto, Markus, Weishaupt, Jochen, Hahn, Andreas, Santer, René, Marquardt, Thorsten, Marklund, Stefan L, Andersen, Peter M
Publicado 2023

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 2017