Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder by 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

Get full text

Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD) by 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

Get full text

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype by Sunny Greene, Mackenzie L. Talbert, F. Graeme Frost, Patricia M. Zerfas, Danielle Springer, Audrey Noguchi, Marie Morimoto, Dawn Maynard, Lisa Garrett, Gene Elliot, Maria Traver, David Yarnell, Petcharat Leoyklang, John D. Burke, Elena-Raluca Nicoli, William A. Gahl, Wendy J. Introne, May Christine V. Malicdan

Get full text