Bilaketaren emaitzak - Marjan Huizing

Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome nork Kerry Morrone, Yanhua Wang, Marjan Huizing, Elie Sutton, James G. White, William A. Gahl, Karen Moody

Testu osoa

Genetic variants associated with Hermansky-Pudlak syndrome nork Melissa A. Merideth, Wendy J. Introne, Jennifer A. Wang, Kevin J. O’Brien, Marjan Huizing, Bernadette R. Gochuico

Testu osoa

Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease nork Marya S. Sabir, Mahin S. Hossain, Laura Pollard, Marjan Huizing, William A. Gahl, Frances M. Platt, May Christine V. Malicdan

Testu osoa

Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder nork Marya S. Sabir, Lynne Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl, Marjan Huizing, Frances M. Platt, May Christine V. Malicdan

Testu osoa

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder nork Marya S. Sabir, Laura Pollard, Lynne Wolfe, David R. Adams, Carla Ciccone, Petcharat Leoyklang, Frances M. Platt, Marjan Huizing, William A. Gahl, May Christine V. Malicdan

Testu osoa

Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD) nork Marya S. Sabir, Petcharat Leoyklang, Mary E. Hackbarth, Evgenia Pak, Amalia Dutra, Richard Tait, Laura Pollard, David R. Adams, William A. Gahl, Marjan Huizing, May Christine V. Malicdan

Testu osoa

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism nork Marya S. Sabir, Vukasin M. Jovanovic, Seungmi Ryu, Chaitali Sen, Pinar Ormanoglu, Laura Pollard, Richard Steet, William A. Gahl, Marjan Huizing, Carlos A. Tristan, Frances M. Platt, May Christine V. Malicdan

Testu osoa

Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder nork Marya S. Sabir, Kostantin Dobrenis, Allisandra K. Rha, Laura Pollard, Petcharat Leoyklang, Mariah Marrero, Carla Ciccone, Mary E. Hackbarth, Marjan Huizing, Raymond Y. Wang, William A. Gahl, Frances M. Platt, May Christine V. Malicdan

Testu osoa

Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies nork Marjan Huizing, Anirban Ganguli, Jonathan Bolaños, Petcharat Leoyklang, Kenneth J. Wilkins, Yi Zeng, William D. Figg, Francis Rossignol, May Christine V. Malicdan, Jeffrey B. Kopp, William A. Gahl, Andrea Ashton, Jodi L. Blake, Thomas A. Cassini, Kevin J. O’Brien

Testu osoa