Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation

by Hebah S. Al Absi, Stephanie Sacharow, Naser Al Zein, Aisha Al Shamsi, Amal Al Teneiji
Published 2021-03-01

First 1.5 years of pegvaliase clinic: Experiences and outcomes

by Stephanie Sacharow, Cassandra Papaleo, Kyla Almeida, Benjamin Goodlett, Amy Kritzer, Harvey Levy, Leslie Martell, Ann Wessel, Krista Viau
Published 2020-09-01

Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics

by Darius Adams, Hans C. Andersson, Heather Bausell, Kea Crivelly, Caroline Eggerding, Melissa Lah, Joshua Lilienstein, Kristin Lindstrom, Markey McNutt, Joseph W. Ray, Heather Saavedra, Stephanie Sacharow, Danielle Starin, Jennifer Tiffany-Amaro, Janet Thomas, Erika Vucko, Leah B. Wessenberg, Kaleigh Whitehall
Published 2021-09-01

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.

by Daria Salyakina, Holly N Cukier, Joycelyn M Lee, Stephanie Sacharow, Laura D Nations, Deqiong Ma, James M Jaworski, Ioanna Konidari, Patrice L Whitehead, Harry H Wright, Ruth K Abramson, Scott M Williams, Ramkumar Menon, Jonathan L Haines, John R Gilbert, Michael L Cuccaro, Margaret A Pericak-Vance
Published 2011-01-01