Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients.
Journal Of Clinical Medicine
Wiest, Maximilian Robert Justus MRJ; Toro, Mario Damiano MD; Nowak, Albina A; Baur, Joel J; Fasler, Katrin K; Hamann, Timothy T; Al-Sheikh, Mayss M; Zweifel, Sandrine Anne SA
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
Human Mutation
Wu, Xiaoyang X; Katz, Evan E; Della Valle, Maria Cecilia MC; Mascioli, Kirsten K; Flanagan, John J JJ; Castelli, Jeffrey P JP; Schiffmann, Raphael R; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER