1. Assessment tools in Pompe Disease: a Scoping Review Protocol
- Author
-
RDCom, SPINE Online, Argüelles, Carina, Alegre, Daiana, Rivera, Israel, Garrido San Juan, Mónica, Del Puerto González, Fabiana, Zelcer, Federico, Rangel, Ayla, Campos, Letícia, and Stegmann, Jorgelina
- Subjects
Medical Sciences ,Congenital, Hereditary, and Neonatal Diseases and Abnormalities ,Follow-up ,Scoping Review ,Infantile-onset Pompe Disease ,Pompe disease ,Diseases ,Lysosomal disorders ,Pathological Conditions, Signs and Symptoms ,Assessment ,Analytical, Diagnostic and Therapeutic Techniques and Equipment ,Diagnosis ,Late-onset Pompe Disease ,Medicine and Health Sciences ,Rare disorders ,Medical Genetics - Abstract
There is a lack of guidelines to assist healthcare professionals in managing patients with Pompe disease. Therefore, it is essential to provide clear, evidence-based guidelines to assist in the evaluation, diagnosis, and follow-up of patients with this rare disease. We aim to synthesize the evidence and knowledge gaps regarding existing assessment tools involved in the diagnosis, follow-up, evaluation, and stratification of patients with Pompe Disease
- Published
- 2022
- Full Text
- View/download PDF