Treatment Options in Congenital Disorders of Glycosylation

by Julien H. Park, Thorsten Marquardt
Published 2021-09-01

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

by Simone Linden, Sabrina Klank, Erik Harms, Marianne Grüneberg, Julien H. Park, Thorsten Marquardt
Published 2020-09-01

Mannose supplementation in PMM2-CDG

by Roman Taday, Julien H. Park, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt
Published 2021-08-01

L-Fucose treatment of FUT8-CDG

by Julien H. Park, Janine Reunert, Miao He, Robert G. Mealer, Maxence Noel, Yoshinao Wada, Marianne Grüneberg, Judit Horváth, Richard D. Cummings, Oliver Schwartz, Thorsten Marquardt
Published 2020-12-01

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

by Kristine Nolting, Julien H. Park, Laura C. Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan Rust, Janine Reunert, Ingrid Du Chesne, Volker Debus, Eric Schulze-Bahr, Robert C. Baxter, Yoshinao Wada, Christian Thiel, Emile van Schaftingen, Ralph Fingerhut, Thorsten Marquardt
Published 2017-12-01