The infantile neuroaxonal dystrophy rating scale (INAD-RS)

by Paldeep S. Atwal, Mark Midei, Darius Adams, Alexander Fay, Frederic Heerinckx, Peter Milner
Published 2020-07-01

Treatment of infantile neuroaxonal dystrophy with RT001: A di‐deuterated ethyl ester of linoleic acid: Report of two cases

by Darius Adams, Mark Midei, Jahannaz Dastgir, Christina Flora, Robert J Molinari, Frederic Heerinckx, Sarah Endemann, Paldeep Atwal, Peter Milner, Mikhail S. Shchepinov
Published 2020-07-01

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

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

by Eric J. R. Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A. Graham, Hanna Mandel, Alexander Hoischen, Theodore C. Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H. M. van Bakel, Yusuke Maeda, Richard J. Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans Koenen, Darius Adams, Julia Vodopiutz, Susanne Greber-Platzer, Thomas Müller, Gregor Dueckers, Eva Morava, Jolanta Sykut-Cegielska, Gerard J. M. Martens, Ron A. Wevers, Tim Niehues, Martijn A. Huynen, Joris A. Veltman, Tom H. Stevens, Dirk J. Lefeber
Published 2016-05-01