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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Clinical management of female patients with Fabry disease based on expert consensus 2025 . BRAND, Eva BRAND \| Linhart, Aleš \| Deegan, Patrick \| Jurcut, Ruxandra \| Pisani, Antonio \| Torra, Roser \| Feldt-Rasmussen, Ulla	2025		http://purl.org/ontology/bibo/Article
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) 2024 . parenti, giancarlo \| Fecarotta, Simona \| Alagia, Marianna \| Attaianese, Federica \| Verde, Alessandra \| Tarallo, Antonietta \| Gragnaniello, Vincenza \| Ziagaki, Athanasia \| Guimaraes, Maria Jose’ \| Aguiar, Patricio \| Hahn, Andreas \| Azevedo, Olga \| Donati, Maria Alice \| Kiec-Wilk, Beata \| Scarpa, Maurizio \| van der Beek, Nadine A. M. E. \| Del Toro Riera, Mireja \| Germain, Dominique P. \| Huidekoper, Hidde \| van den Hout, Johanna M. P. \| van der Ploeg, Ans T. \| and the MetabERN Subnetwork for Lysosomal Disorders \| Baric, Ivo \| Batzios, Spyros \| Belmatoug, Nadia \| Bordugo, Andrea \| Bosch, Annet M. \| Brassier, Anais \| Burlina, Alberto \| Cassiman, David \| Chabrol, Brigitte \| Chronopoulou, Efstathia \| Couce-Pico, Maria Luz \| Darin, Niklas \| Das, Anibh M. \| Debray, Francois G. \| Deegan, Patrick \| de Abreu Freire Diogo Matos, Luisa M. \| De Las Heras Montero, Javier \| Di Rocco, Maja \| Dobbelaere, Dries \| Eyskens, Francois \| Ferreira, Ana \| Gaspar, Ana M. \| Gasperini, Serena \| López, Antonio González-Meneses \| Grosso, Salvatore \| Guffon-Fouilhoux, Nathalie \| Hennermann, Julia \| Hiwot, Tarekegn G. \| Jones, Simon \| Kingma, Sandra \| Komninaka, Veroniki \| Martín-Hernández, Elena \| Martins, Esmeralda \| Miclea, Diana \| Pfliegler, György \| Rodrigues, Esmeralda \| Rokicki, Dariusz \| Roland, Dominique \| Rutsch, Frank \| Salviati, Alessandro \| Tournev, Ivailo \| Ullrich, Kurt \| van Hasselt, Peter M. \| Vijay, Suresh \| Weinhold, Natalie \| Witters, Peter \| Zeman, Jiri	2024		http://purl.org/ontology/bibo/Article
Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease 2024 . Kishnani, Priya S. \| Byrne, Barry J. \| Claeys, Kristl \| Díaz-Manera, Jordi \| Dimachkie, Mazen M. \| Kushlaf, Hani \| Mozaffar, Tahseen \| Roberts, Mark \| Schoser, Benedikt \| Hummel, Noemi \| Kopiec, Agnieszka \| Holdbrook, Fred \| Shohet, Simon \| Toscano, Antonio \| on behalf of the PROPEL Study Group \| Sebok, Agnes \| Pestronk, Alan \| Dominovic-Kovacevic, Aleksandra \| Khan, Aneal \| Koritnik, Blaž \| Tard, Celine \| Lindberg, Christopher \| Quinn, Colin \| Eldridge, Crystal \| Bodkin, Cynthia \| Reyes-Leiva, David \| Hughes, Derralynn \| Stefanescu, Ela \| Salort-Campana, Emmanuelle \| Butler, Ernest \| Bouhour, Francoise \| Kim, Gee \| Papadimas, George Konstantinos \| Parenti, Giancarlo \| Bartosik-Psujek, Halina \| Akihiro, Hashiguchi \| Lau, Heather \| Pedro, Helio \| Andersen, Henning \| Amartino, Hernan \| Shiraishi, Hideaki \| Kobayashi, Hiroshi \| Tarnev, Ivaylo \| Vengoechea, Jaime \| Avelar, Jennifer \| Shin, Jin-Hong \| Cauci, Jonathan \| Alonso-Pérez, Jorge \| Janszky, Jozsef \| Berthy, Julie \| Kornblum, Cornelia \| Gutschmidt, Kristina \| Molnar, Maria Judit \| Wencel, Marie \| Tarnopolsky, Mark \| Tchan, Michel \| Freimer, Miriam \| Longo, Nicola \| Vidal-Fernandez, Nuria \| Musumeci, Olimpia \| Goker-Alpan, Ozlem \| Deegan, Patrick \| Clemens, Paula R \| Roxburgh, Richard \| Henderson, Robert \| Hopkin, Robert \| Sacconi, Sabrina \| Fecarotta, Simona \| Attarian, Shahram \| Wenninger, Stephan \| Dearmey, Stephanie \| Hiwot, Tarekegn \| Burrow, Thomas \| Ruck, Tobias \| Sawada, Tomo \| Laszlo, Vescei \| Löscher, Wolfgang \| Chien, Yin-Hsiu	2024		http://purl.org/ontology/bibo/Article
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07) 2024 . Schoser, Benedikt \| Kishnani, Priya S. \| Bratkovic, Drago \| Byrne, Barry J. \| Claeys, Kristl G. \| Díaz-Manera, Jordi \| Laforêt, Pascal \| Roberts, Mark \| Toscano, Antonio \| van der Ploeg, Ans T. \| Castelli, Jeff \| Goldman, Mitchell \| Holdbrook, Fred \| Sitaraman Das, Sheela \| Wasfi, Yasmine \| Mozaffar, Tahseen \| the ATB200-07 Study Group \| Sebok, Agnes \| Pestronk, Alan \| Dominovic-Kovacevic, Aleksandra \| Khan, Aneal \| Koritnik, Blaž \| Tard, Celine \| Lindberg, Christopher \| Quinn, Colin \| Eldridge, Crystal \| Bodkin, Cynthia \| Reyes-Leiva, David \| Hughes, Derralynn \| Stefanescu, Ela \| Salort-Campana, Emmanuelle \| Butler, Ernest \| Bouhour, Francoise \| Kim, Gee \| Papadimas, George Konstantinos \| Parenti, Giancarlo \| Bartosik-Psujek, Halina \| Kushlaf, Hani \| Akihiro, Hashiguchi \| Lau, Heather \| Pedro, Helio \| Andersen, Henning \| Amartino, Hernan \| Shiraishi, Hideaki \| Kobayashi, Hiroshi \| Tarnev, Ivaylo \| Vengoechea, Jaime \| Avelar, Jennifer \| Shin, Jin-Hong \| Nevin, John \| Cauci, Jonathan \| Alonso-Pérez, Jorge \| Janszky, Jozsef \| Berthy, Julie \| Kornblum, Cornelia \| Gutschmidt, Kristina \| Molnar, Maria Judit \| Wencel, Marie \| Tarnopolsky, Mark \| Boentert, Matthias \| Tchan, Michel \| Freimer, Miriam \| Longo, Nicola \| Abreu, Nicolas \| Vidal-Fernandez, Nuria \| Musumeci, Olimpia \| Goker-Alpan, Ozlem \| Deegan, Patrick \| Clemens, Paula R. \| Roxburgh, Richard \| Henderson, Robert \| Hopkin, Robert \| Sacconi, Sabrina \| Fecarotta, Simona \| Attarian, Shahram \| Wenninger, Stephan \| Dearmey, Stephanie \| Hiwot, Tarekegn \| Burrow, Thomas \| Ruck, Tobias \| Sawada, Tomo \| Laszlo, Vescei \| Löscher, Wolfgang \| Chien, Yin-Hsiu	2024		http://purl.org/ontology/bibo/Article