The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

Abstract 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 defici...

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Bibliographic Details
Main Authors: Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, Federica Attaianese, Alessandra Verde, Antonietta Tarallo, Vincenza Gragnaniello, Athanasia Ziagaki, Maria Jose’ Guimaraes, Patricio Aguiar, Andreas Hahn, Olga Azevedo, Maria Alice Donati, Beata Kiec-Wilk, Maurizio Scarpa, Nadine A. M. E. van der Beek, Mireja Del Toro Riera, Dominique P. Germain, Hidde Huidekoper, Johanna M. P. van den Hout, Ans T. van der Ploeg, and the MetabERN Subnetwork for Lysosomal Disorders
Format: Article
Language:English
Published: BMC 2024-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Pompe disease
Glycogen storage disease (GSD) type II
Acid alpha-glucosidase deficiency
Acid maltase deficiency
Lysosomal storage disease
Online Access:https://doi.org/10.1186/s13023-024-03373-w

Internet

https://doi.org/10.1186/s13023-024-03373-w

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