{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T19:06:53Z","timestamp":1780340813495,"version":"3.54.1"},"reference-count":60,"publisher":"FapUNIFESP (SciELO)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"abstract":"<jats:p>ABSTRACT Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme\u00ae). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L\u2019Hotel Port Bay in S\u00e3o Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.<\/jats:p>","DOI":"10.1590\/0004-282x20150194","type":"journal-article","created":{"date-parts":[[2015,12,18]],"date-time":"2015-12-18T22:08:56Z","timestamp":1450476536000},"page":"166-176","source":"Crossref","is-referenced-by-count":37,"title":["Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease"],"prefix":"10.1590","volume":"74","author":[{"given":"Juan Clinton","family":"Llerena Junior","sequence":"first","affiliation":[{"name":"FIOCRUZ, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osvaldo JM.","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Universidade Federal Fluminense, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Acary Souza B.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario Emilio T.","family":"Dourado Junior","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Norte, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo D.","family":"Marrone","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Marrone, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heloise Helena","family":"Siqueira","sequence":"additional","affiliation":[{"name":"Universidade de Cuiab\u00e1, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e1udia F. 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