Hereditary Inclusion Body Myopathy: A Decade of Progress

door Huizing, Marjan, Krasnewich, Donna M.
Gepubliceerd in 2009

Allele-specific silencing of the dominant disease allele in sialuria by RNA interference

door Klootwijk, Riko D., Savelkoul, Paul J. M., Ciccone, Carla, Manoli, Irini, Caplen, Natasha J., Krasnewich, Donna M., Gahl, William A., Huizing, Marjan
Gepubliceerd in 2008

Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition

door Leroy, Jules G., Seppala, Raili, Huizing, Marjan, Dacremont, George, De Simpel, Helena, Van Coster, Rudy N., Orvisky, Edwin, Krasnewich, Donna M., Gahl, William A.
Gepubliceerd in 2001

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

door Galeano, Belinda, Klootwijk, Riko, Manoli, Irini, Sun, MaoSen, Ciccone, Carla, Darvish, Daniel, Starost, Matthew F., Zerfas, Patricia M., Hoffmann, Victoria J., Hoogstraten-Miller, Shelley, Krasnewich, Donna M., Gahl, William A., Huizing, Marjan
Gepubliceerd in 2007

Expanding the Clinical and Molecular Characteristics of PIGT-CDG, a Disorder of Glycosylphosphatidylinositol Anchors

door Lam, Christina, Golas, Gretchen A., Davids, Mariska, Huizing, Marjan, Kane, Megan S., Krasnewich, Donna M., Malicdan, May Christine V., Adams, David R., Markello, Thomas C., Zein, Wadih M., Gropman, Andrea L., Lodish, Maya B., Stratakis, Constantine A., Maric, Irina, Rosenzweig, Sergio D., Baker, Eva H., Ferreira, Carlos R., Danylchuk, Noelle R., Kahler, Stephen, Garnica, Adolfo D., Schaefer, G. Bradley, Boerkoel, Cornelius F., Gahl, William A., Wolfe, Lynne A.
Gepubliceerd in Mol Genet Metab (2015)