Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
International Journal Of Molecular Sciences
Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A
Analysis of lyso-globotriaosylsphingosine in dried blood spots.
Annals Of Laboratory Medicine
Johnson, Britt B; Mascher, Hermann H; Mascher, Daniel D; Legnini, Elisa E; Hung, Christina Y CY; Dajnoki, Angela A; Chien, Yin-Hsiu YH; Maródi, László L; Hwu, Wuh-Liang WL; Bodamer, Olaf A OA