Mucolipidosis Type III α/β: The First Characterization of This Rare Disease by Autopsy

Por Kerr, Darcy A., Memoli, Vincent A., Cathey, Sara S., Harris, Brent T.
Publicado em 2011

Phenotype and Genotype in Mucolipidoses II and III alpha/beta: A Study of 61 Probands

Por Cathey, Sara S., Leroy, Jules G., Wood, Tim, Eaves, Karisa, Simensen, Richard J., Kudo, Mariko, Stevenson, Roger E., Friez, Michael J.
Publicado em 2009

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain

Por Leroy, Jules G, Sillence, David, Wood, Tim, Barnes, Jarrod, Lebel, Robert Roger, Friez, Michael J, Stevenson, Roger E, Steet, Richard, Cathey, Sara S
Publicado em 2014

Expanding the molecular and clinical phenotype of SSR4-CDG

Por Ng, Bobby G., Raymond, Kimiyo, Kircher, Martin, Buckingham, Kati J., Wood, Tim, Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Wong, Jonathan T.S., Monteiro, Fabiola Paoli, Graham, Brett H., Jackson, Sheryl, Sparkes, Rebecca, Scheuerle, Angela E., Cathey, Sara, Kok, Fernando, Gibson, James B., Freeze, Hudson H.
Publicado no Hum Mutat (2015)

Outcomes after Hematopoietic Stem Cell Transplant for Children with I-Cell Disease

Por Lund, Troy C., Cathey, Sara S., Miller, Weston P., Eapen, Mary, Andreansky, Martin, Dvorak, Christopher C., Davis, Jeffrey H., Dalal, Jignesh D., Devine, Steven M., Eames, Gretchen M., Ferguson, William S., Giller, Roger H., He, Wensheng, Kurtzberg, Joanne, Krance, Robert, Katsanis, Emmanuel, Lewis, Victor A., Sahdev, Indira, Orchard, Paul J.
Publicado em 2014