Publications by authors named "Mireja Del Toro Riera"
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Giancarlo Parenti Simona Fecarotta Marianna Alagia Federica Attaianese Alessandra Verde Mireja Del Toro Riera
Orphanet J Rare Dis
November 2024
Article Synopsis
- Clinical pathway recommendations (CPR) provide guidance on managing specific diagnoses, in this case, Pompe disease, a metabolic disorder caused by a deficiency in a specific enzyme.
- The CPR document was created by a working group from MetabERN, which focuses on metabolic diseases, and involved systematic literature searches and quality assessments based on established methodologies.
- This document aims to standardize care for Pompe disease patients by addressing various aspects including pathophysiology, diagnosis, treatment, and follow-up strategies for healthcare providers.