A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation

Por Thomas, Christian, Zühlsdorf, Andrea, Hörtnagel, Konstanze, Mulahasanovic, Lejla, Grauer, Oliver M., Kümpers, Philipp, Wiendl, Heinz, Meuth, Sven G.
Publicado no Front Neurol (2018)

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)