An unusually mild case of biotin-thiamine-responsive basal ganglia disease

por Lail, Gurnoor, Blaser, Susan, Inbar-Feigenberg, Michal
Publicado 2023

Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series

por Radenkovic, Silvia, Johnsen, Christin, Schulze, Andreas, Lail, Gurnoor, Guilder, Laura, Schwartz, Kaitlin, Schultz, Matthew, Mercimek-Andrews, Saadet, Boyer, Suzanne, Morava, Eva
Publicado 2023