Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
European Journal Of Human Genetics : Ejhg
Niño, Monica Y MY; Wijgerde, Mark M; de Faria, Douglas Oliveira Soares DOS; Hoogeveen-Westerveld, Marianne M; Bergsma, Atze J AJ; Broeders, Mike M; van der Beek, Nadine A M E NAME; van den Hout, Hannerieke J M HJM; van der Ploeg, Ans T AT; Verheijen, Frans W FW; Pijnappel, W W M Pim WWMP
Publication Date: 2021-03
Variant appearance in text: GAA: 1460T>C; Phe487Ser
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Nature Communications
Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G
Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study.
Journal Of Inherited Metabolic Disease
van Gelder, C M CM; Poelman, E E; Plug, I I; Hoogeveen-Westerveld, M M; van der Beek, N A M E NAME; Reuser, A J J AJJ; van der Ploeg, A T AT