1. Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial. (December 2017) Authors: Chien, Yin-Hsiu; Lee, Ni-Chung; Tseng, Sheng-Hong; Tai, Chun-Hwei; Muramatsu, Shin-ichi; Byrne, Barry J; Hwu, Wuh-Liang Journal: Lancet Issue: Volume 1:Number 4(2017) Page Start: 265 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Issue 4 (4th September 2019) Authors: Graham, Robert J; Muntoni, Francesco; Hughes, Imelda; Yum, Sabrina W; Kuntz, Nancy L; Yang, Michele L; Byrne, Barry J; Prasad, Suyash; Alvarez, Rachel; Genetti, Casie A; Haselkorn, Tmirah; James, Emma S; LaRusso, Laurie B; Noursalehi, Mojtaba; Rico, Salvador; Beggs, Alan H Journal: Archives of disease in childhood Issue: Volume 105:Issue 4(2020) Page Start: 332 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. Issue 12 (December 2021) Authors: Schoser, Benedikt; Roberts, Mark; Byrne, Barry J; Sitaraman, Sheela; Jiang, Hai; Laforêt, Pascal; Toscano, Antonio; Castelli, Jeff; Díaz-Manera, Jordi; Goldman, Mitchell; van der Ploeg, Ans T; Bratkovic, Drago; Kuchipudi, Srilakshmi; Mozaffar, Tahseen; Kishnani, Priya S; Sebok, Agnes; Pestronk, A... Journal: Lancet neurology Issue: Volume 20:Issue 12(2021) Page Start: 1027 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗