The European reference network for metabolic diseases

Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In this paper we propose a methodology for developing CPRs for Pompe disease, a metabolic myopathy caused by deficiency of l...

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Veröffentlicht in:	Orphanet journal of rare diseases 2024-11, Vol.19 (1)
Hauptverfasser:	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, 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
Format:	Artikel
Sprache:	eng
Schlagworte:	Amylases Analysis Care and treatment Diagnosis Genetic aspects Glycogenosis Physiology, Pathological
Online-Zugang:	Volltext
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