{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T20:14:36Z","timestamp":1773864876709,"version":"3.50.1"},"reference-count":40,"publisher":"FapUNIFESP (SciELO)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. bras. pneumol."],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:p>ABSTRACT Objective: To describe respiratory function in a series of patients with late-onset Pompe disease after the definitive diagnosis and before enzyme replacement therapy. Methods: This was a cross-sectional study involving patients with a definitive molecular diagnosis of late-onset Pompe disease. The data analyzed included age at symptom onset; age at definitive diagnosis; type of initial symptoms; time from symptom onset to diagnosis; FVC in the sitting and supine positions; six-minute walk distance; and locomotor ability. Analyses were carried out using frequencies, medians, minimum values, and maximum values. Results: Six patients were included in the study. The median age at symptom onset was 15 years (range, 13-50 years), and the median age at diagnosis was 39.5 years (range, 10-64 years). The median time from symptom onset to diagnosis was 8 years (range, 0-45 years). In all cases, the initial manifestation of the disease had been motor weakness. The median FVC in percentage of the predicted value (FVC%) in the sitting and supine positions was 71.0% (range, 22.9-104.6%) and 58.0% (range, 10.9-106.9%), respectively. The median \u0394FVC% was 24.5% (range, \u22124.59 to 52.40%).The median six-minute walk distance was 391.7 m (range, 97-702 m) . Conclusions: In this case series, the time from symptom onset to diagnosis was long. Although respiratory signs or symptoms were not the initial manifestations of the disease, 66.7% of the patients showed reduced FVC% in the sitting and supine positions at diagnosis.<\/jats:p>","DOI":"10.1590\/s1806-37562015000000343","type":"journal-article","created":{"date-parts":[[2017,4,5]],"date-time":"2017-04-05T23:19:45Z","timestamp":1491434385000},"page":"54-59","source":"Crossref","is-referenced-by-count":8,"title":["Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil"],"prefix":"10.1590","volume":"43","author":[{"given":"Bruna de Souza","family":"Sixel","sequence":"first","affiliation":[{"name":"Funda\u00e7\u00e3o Oswaldo Cruz, Brazil; Funda\u00e7\u00e3o Oswaldo Cruz, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luanda Dias da","family":"Silva","sequence":"additional","affiliation":[{"name":"Funda\u00e7\u00e3o Oswaldo Cruz, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolette 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