Hereditary Inclusion Body Myopathy: A Decade of Progress

Por Huizing, Marjan, Krasnewich, Donna M.
Publicado em 2009

Lysosomal Storage Disorders in the Newborn

Por Staretz-Chacham, Orna, Lang, Tess C., LaMarca, Mary E., Krasnewich, Donna, Sidransky, Ellen
Publicado em 2009

Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering

Por Kang, Changsoo, Riazuddin, Sheikh, Mundorff, Jennifer, Krasnewich, Donna, Friedman, Penelope, Mullikin, James C., Drayna, Dennis
Publicado em 2010

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

Por Klootwijk, Riko D., Savelkoul, Paul J. M., Ciccone, Carla, Manoli, Irini, Caplen, Natasha J., Krasnewich, Donna M., Gahl, William A., Huizing, Marjan
Publicado em 2008

Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition

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

The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data

Por Wong, Kira M., Langlais, Kristofor, Tobias, Geoffrey S., Fletcher-Hoppe, Colette, Krasnewich, Donna, Leeds, Hilary S., Rodriguez, Laura Lyman, Godynskiy, Georgy, Schneider, Valerie A., Ramos, Erin M., Sherry, Stephen T.
Publicado no Nucleic Acids Res (2017)

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

Por Dorward Heidi, Ciccone Carla, Sonies Barbara, Harris-Love Michael, Shrader Joseph, Manoli Irini, Joe Galen, Rakocevic Goran, Sparks Susan, Krasnewich Donna, Huizing Marjan, Dalakas Marinos C, Gahl William A
Publicado em 2007-01-01

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

Por Sparks, Susan, Rakocevic, Goran, Joe, Galen, Manoli, Irini, Shrader, Joseph, Harris-Love, Michael, Sonies, Barbara, Ciccone, Carla, Dorward, Heidi, Krasnewich, Donna, Huizing, Marjan, Dalakas, Marinos C, Gahl, William A
Publicado em 2007

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

Por 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
Publicado em 2007

Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease

Por Gunay-Aygun, Meral, Font-Montgomery, Esperanza, Lukose, Linda, Tuchman, Maya, Graf, Jennifer, Bryant, Joy C., Kleta, Robert, Garcia, Angelica, Edwards, Hailey, Piwnica-Worms, Katie, Adams, David, Bernardini, Isa, Fischer, Roxanne E., Krasnewich, Donna, Oden, Neal, Ling, Alex, Quezado, Zenaide, Zak, Colleen, Daryanani, Kailash T., Turkbey, Baris, Choyke, Peter, Guay-Woodford, Lisa M., Gahl, William A.
Publicado em 2010