Enzyme Replacement Therapy and Extended Newborn Screening for Mucopolysaccharidoses: Opinions of Treating Physicians

Por Coman, David J., Hayes, Ian M., Collins, Veronica, Sahhar, Margaret, Wraith, J. Ed, Delatycki, Martin B.
Publicado em 2011

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Por Di Gioia, Silvio Alessandro, Connors, Samantha, Matsunami, Norisada, Cannavino, Jessica, Rose, Matthew F., Gilette, Nicole M., Artoni, Pietro, de Macena Sobreira, Nara Lygia, Chan, Wai-Man, Webb, Bryn D., Robson, Caroline D., Cheng, Long, Van Ryzin, Carol, Ramirez-Martinez, Andres, Mohassel, Payam, Leppert, Mark, Scholand, Mary Beth, Grunseich, Christopher, Ferreira, Carlos R., Hartman, Tyler, Hayes, Ian M., Morgan, Tim, Markie, David M., Fagiolini, Michela, Swift, Amy, Chines, Peter S., Speck-Martins, Carlos E., Collins, Francis S., Jabs, Ethylin Wang, Bönnemann, Carsten G., Olson, Eric N., Carey, John C., Robertson, Stephen P., Manoli, Irini, Engle, Elizabeth C.
Publicado no Nat Commun (2017)