2026-04-17T04:08:18Zhttps://recercat.cat/oai/requestoai:recercat.cat:11351/124382025-10-24T10:33:59Zcom_2072_378070com_2072_378040col_2072_378092
RECERCAT
author
parenti, giancarlo
author
Fecarotta, Simona
author
Alagia, Marianna
author
Attaianese, Federica
author
Verde, Alessandra
author
Tarallo, Antonietta
author
del Toro, Mireia
2025-10-24T10:33:59Z
2025-10-24T10:33:59Z
2025-01-20T09:53:30Z2025-01-20T09:53:30Z2024-11-01
http://hdl.handle.net/11351/12438
Acid alpha-glucosidase deficiency; Glycogen storage disease type II; Pompe diseaseDeficiencia de alfa-glucosidasa ácida; Enfermedad de almacenamiento de glucógeno tipo II; Enfermedad de PompeDeficiència d'alfa-glucosidasa àcida; Malaltia d'emmagatzematge de glicogen tipus II; Malaltia de PompeClinical 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 lysosomal acid alpha-glucosidase. The CPR document was developed within the activities of the MetabERN, a non-profit European Reference Network for Metabolic Diseases established by the European Union. A working group was selected among members of the MetabERN lysosomal storage disease subnetwork, with specific expertise in the care of Pompe disease, and patient support group representatives. The working strategy was based on a systematic literature search to develop a database, followed by quality assessment of the studies selected from the literature, and by the development of the CPR document according to a matrix provided by MetabERN. Quality assessment of the literature and collection of citations was conducted according to the AGREE II criteria and Grading of Recommendations, Assessment, Development and Evaluation methodology. General aspects were addressed in the document, including pathophysiology, genetics, frequency, classification, manifestations and clinical approach, laboratory diagnosis and multidisciplinary evaluation, therapy and supportive measures, follow-up, monitoring, and pregnancy. The CPR document that was developed was intended to be a concise and easy-to-use tool for standardization of care for patients among the healthcare providers that are members of the network or are involved in the care for Pompe disease patients.
Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess
Metabolisme - Trastorns
Glucosidases
Pompe, Malaltia de - Diagnòstic
Pompe, Malaltia de - Tractament
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic::Brain Diseases, Metabolic, Inborn::Lysosomal Storage Diseases, Nervous System::Glycogen Storage Disease Type II
Other subheadings::Other subheadings::/diagnosis
CHEMICALS AND DRUGS::Enzymes and Coenzymes::Enzymes::Hydrolases::Glycoside Hydrolases::Glucosidases::alpha-Glucosidases
HEALTH CARE::Health Services Administration::Patient Care Management::Disease Management
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas::enfermedades cerebrales metabólicas congénitas::enfermedades por almacenamiento lisosómico del sistema nervioso::enfermedad por almacenamiento de glucógeno tipo II
Otros calificadores::Otros calificadores::/diagnóstico
COMPUESTOS QUÍMICOS Y DROGAS::enzimas y coenzimas::enzimas::hidrolasas::glicósido hidrolasas::glucosidasas::alfa-glucosidasas
ATENCIÓN DE SALUD::administración de los servicios de salud::gestión de la atención al paciente::tratamiento de las enfermedades
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion