1. A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. (30th April 2019) Authors: Lochmüller, Hanns; Behin, Anthony; Caraco, Yoseph; Lau, Heather; Mirabella, Massimiliano; Tournev, Ivailo; Tarnopolsky, Mark; Pogoryelova, Oksana; Woods, Catherine; Lai, Alexander; Shah, Jinay; Koutsoukos, Tony; Skrinar, Alison; Mansbach, Hank; Kakkis, Emil; Mozaffar, Tahseen Journal: Neurology Issue: Volume 92:Number 18(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD). Issue 1 (11th February 2019) Authors: Vockley, Jerry; Burton, Barbara; Berry, Gerard T.; Longo, Nicola; Phillips, John; Sanchez‐Valle, Amarilis; Tanpaiboon, Pranoot; Grunewald, Stephanie; Murphy, Elaine; Bowden, Alexandra; Chen, Wencong; Chen, Chao‐Yin; Cataldo, Jason; Marsden, Deborah; Kakkis, Emil Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 1(2019) Page Start: 169 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗