Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

por Taday, Roman, Grüneberg, Marianne, DuChesne, Ingrid, Reunert, Janine, 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

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening()

por Reunert, Janine, Fobker, Manfred, Kannenberg, Frank, Du Chesne, Ingrid, Plate, Maria, Wellhausen, Judith, Rust, Stephan, Marquardt, Thorsten
Publicado 2015

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