Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy

Autor Niethamer, Terren K., Yardeni, Tal, Leoyklang, Petcharat, Ciccone, Carla, Astiz-Martinez, Adrian, Jacobs, Katherine, Dorward, Heidi M., Zerfas, Patricia M., Gahl, William A., Huizing, Marjan
Vydáno 2012

Neurologic involvement in patients with atypical Chediak-Higashi disease

Autor Introne, Wendy J., Westbroek, Wendy, Cullinane, Andrew R., Groden, Catherine A., Bhambhani, Vikas, Golas, Gretchen A., Baker, Eva H., Lehky, Tanya J., Snow, Joseph, Ziegler, Shira G., Adams, David R., Dorward, Heidi M., Hess, Richard A., Huizing, Marjan, Gahl, William A., Toro, Camilo
Vydáno v Neurology (2016)

Neurologic involvement in patients with atypical Chediak-Higashi disease

Autor Introne, Wendy J., Westbroek, Wendy, Groden, Catherine A., Bhambhani, Vikas, Golas, Gretchen A., Baker, Eva H., Lehky, Tanya J., Snow, Joseph, Ziegler, Shira G., Malicdan, May Christine V., Adams, David R., Dorward, Heidi M., Hess, Richard A., Huizing, Marjan, Gahl, William A., Toro, Camilo
Vydáno v Neurology (2017)

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria

Autor Sloan, Jennifer L., Johnston, Jennifer J., Manoli, Irini, Chandler, Randy J., Krause, Caitlin, Carrillo-Carrasco, Nuria, Chandrasekaran, Suma D., Sysol, Justin R., O’Brien, Kevin, Hauser, Natalie S., Sapp, Julie C., Dorward, Heidi M., Huizing, Marjan, Barshop, Bruce A., Berry, Susan A., James, Philip M., Champaigne, Neena L., de Lonlay, Pascale, Valayannopoulos, Vassilli, Geschwind, Michael D., Gavrilov, Dimitar K., Nyhan, William L., Biesecker, Leslie G., Venditti, Charles P.
Vydáno 2011