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Anzahl der Publikationen: 3
Zeitschriftenartikel
Dimachkie, Mazen M.; Barohn, Richard J.; Byrne, Barry; Goker-Alpan, Ozlem; Kishnani, Priya S.; Ladha, Shafeeq; Laforet, Pascal; Mengel, Karl Eugen; Pena, Loren D. M.; Sacconi, Sabrina; Straub, Volker; Trivedi, Jaya; Damme, Philip van; Ploeg, Ans T. van der; Vissing, John; Young, Peter; Haack, Kristina An; Foster, Meredith; Gilbert, Jane M.; Miossec, Patrick; Vitse, Olivier; Zhou, Tianyue und Schoser, Benedikt
(2022):
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.
In: Neurology, Bd. 99, Nr. 5, E536-E548
Godefroy, Anastasia; Daurat, Morgane; Da Silva, Afitz; Basile, Ilaria; El Cheikh, Khaled; Caillaud, Catherine; Sacconi, Sabrina; Schoser, Benedikt; Charbonne, Henry-Vincent; Gary-Bobo, Magali; Morere, Alain; Garcia, Marcel und Maynadier, Marie
(2019):
Mannose 6-phosphonate labelling: A key for processing the therapeutic enzyme in Pompe disease.
In: Journal of Cellular and Molecular Medicine, Bd. 23, Nr. 9: S. 6499-6503
Laforet, Pascal; Inoue, Michio; Goillot, Evelyne; Lefeuvre, Claire; Cagin, Umut; Streichenberger, Nathalie; Leonard-Louis, Sarah; Brochier, Guy; Madelaine, Angeline; Labasse, Clemence; Hedberg-Oldfors, Carola; Krag, Thomas; Jauze, Louisa; Fabregue, Julien; Labrune, Philippe; Milisenda, Jose; Nadaj-Pakleza, Aleksandra; Sacconi, Sabrina; Mingozzi, Federico; Ronzitti, Giuseppe; Petit, Francois; Schoser, Benedikt; Oldfors, Anders; Vissing, John; Romero, Norma B.; Nishino, Ichizo und Malfatti, Edoardo
(2019):
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
In: Acta Neuropathologica Communications, Bd. 7, Nr. 1, 167