2026-04-13T01:39:30Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/124382025-10-24T10:33:59Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc parenti, giancarlo author Fecarotta, Simona author Alagia, Marianna author Attaianese, Federica author Verde, Alessandra author Tarallo, Antonietta author del Toro, Mireia author 2025-01-20T09:53:30Z 2025-01-20T09:53:30Z 2024-11-01 Acid alpha-glucosidase deficiency; Glycogen storage disease type II; Pompe disease Deficiencia de alfa-glucosidasa ácida; Enfermedad de almacenamiento de glucógeno tipo II; Enfermedad de Pompe Deficiència d'alfa-glucosidasa àcida; Malaltia d'emmagatzematge de glicogen tipus II; Malaltia de Pompe 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 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. http://hdl.handle.net/11351/12438 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)