{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:32:57Z","timestamp":1763037177295},"reference-count":20,"publisher":"FapUNIFESP (SciELO)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"abstract":"<jats:p>ABSTRACT Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main screening tool. Dried blood spots were collected for GAA activity assay from 24 patients with \u201cunexplained\u201d limb-girdle muscular weakness without vacuolar myopathy in their muscle biopsy. Samples with reduced enzyme activity were also investigated for GAA gene mutations. Of the 24 patients with dried blood spots, one patient (4.2%) showed low GAA enzyme activity (NaG\/AaGIA: 40.42; %INH: 87.22%). In this patient, genetic analysis confirmed two heterozygous mutations in the GAA gene (c.-32-13T&gt;G\/p.Arg854Ter). Our data confirm that clinicians should look for late-onset Pompe disease in patients whose clinical manifestation is an \u201cunexplained\u201d limb-girdle weakness even without vacuolar myopathy in muscle biopsy.<\/jats:p>","DOI":"10.1590\/0004-282x20180018","type":"journal-article","created":{"date-parts":[[2018,5,5]],"date-time":"2018-05-05T15:19:13Z","timestamp":1525533553000},"page":"247-251","source":"Crossref","is-referenced-by-count":8,"title":["Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?"],"prefix":"10.1590","volume":"76","author":[{"given":"Paulo Jos\u00e9","family":"Lorenzoni","sequence":"first","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cl\u00e1udia Suemi Kamoi","family":"Kay","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N\u00e1dia Sugano","family":"Higashi","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e2nia","family":"D'Almeida","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lineu Cesar","family":"Werneck","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosana Herminia","family":"Scola","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  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