Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease.
International Journal Of Molecular Sciences
Hintze, Stefan S; Limmer, Sarah S; Dabrowska-Schlepp, Paulina P; Berg, Birgit B; Krieghoff, Nicola N; Busch, Andreas A; Schaaf, Andreas A; Meinke, Peter P; Schoser, Benedikt B
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,