{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T21:41:04Z","timestamp":1791582064596,"version":"4.3.4"},"reference-count":48,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,6,18]],"date-time":"2019-06-18T00:00:00Z","timestamp":1560816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2019,6,18]],"date-time":"2019-06-18T00:00:00Z","timestamp":1560816000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primary Ciliary Dyskinesia (PCD) is underdiagnosed in Brazil. We enrolled patients from an adult service of Bronchiectasis over a two-year period in a cross-sectional study. The inclusion criteria were laterality disorders (LD), cough with recurrent infections and the exclusion of other causes of bronchiectasis. Patients underwent at least two of the following tests: nasal nitric oxide, ciliary movement and analysis of ciliary immunofluorescence, and genetic tests (31 PCD genes + <jats:italic>CFTR<\/jats:italic> gene). The clinical characterization included the PICADAR and bronchiectasis scores, pulmonary function, chronic <jats:italic>Pseudomonas aeruginosa<\/jats:italic> (cPA) colonization, exhaled breath condensate (EBC) and mucus rheology (MR). Forty-nine of the 500 patients were diagnosed with definite (42\/49), probable (5\/49), and clinical (2\/49) PCD. Twenty-four patients (24\/47) presented bi-allelic pathogenic variants in a total of 31 screened PCD genes. A PICADAR score\u2009&gt;\u20095 was found in 37\/49 patients, consanguinity in 27\/49, LD in 28\/49, and eight PCD sibling groups. FACED diagnosed 23\/49 patients with moderate or severe bronchiectasis; FEV<jats:sub>1<\/jats:sub>\u2009\u2264\u200950% in 25\/49 patients, eight patients had undergone lung transplantation, four had been lobectomized and cPA+ was determined in 20\/49. The EBC and MR were altered in all patients. This adult PCD population was characterized by consanguinity, severe lung impairment, genetic variability, altered EBC and MR.<\/jats:p>","DOI":"10.1038\/s41598-019-45017-1","type":"journal-article","created":{"date-parts":[[2019,6,18]],"date-time":"2019-06-18T10:02:40Z","timestamp":1560852160000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil"],"prefix":"10.1038","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9489-4655","authenticated-orcid":false,"given":"Mary Anne Kowal","family":"Olm","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4955-4234","authenticated-orcid":false,"given":"Fernando Augusto Lima","family":"Marson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo Abensur","family":"Athanazio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi Kondo","family":"Nakagawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariangela","family":"Macchione","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1534-2105","authenticated-orcid":false,"given":"Niki Tomas","family":"Loges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heymut","family":"Omran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samia Zahi","family":"Rached","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen S\u00edlvia","family":"Bertuzzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Stelmach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo Hil\u00e1rio Nascimento","family":"Saldiva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Dirceu","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus Herbert","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thais","family":"Mauad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,6,18]]},"reference":[{"issue":"2","key":"45017_CR1","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1002\/path.4843","volume":"241","author":"Hannah M Mitchison","year":"2016","unstructured":"Mitchison, H. M. & Valente, E. M. Motile and non-motile cilia in human pathology: from function to phenotypes. J Pathol [Internet]. John Wiley & Sons, Ltd; [cited 2018 Jan 11]; 241(2), 294\u2013309. Available from: https:\/\/doi.org\/10.1002\/path.4843 (2017 Jan 1).","journal-title":"The Journal of Pathology"},{"issue":"8","key":"45017_CR2","doi-asserted-by":"publisher","first-page":"913","DOI":"10.1164\/rccm.201301-0059CI","volume":"188","author":"Michael R. Knowles","year":"2013","unstructured":"Knowles, M. R., Daniels, L. A., Davis, S. D., Zariwala, M. A. & Leigh, M. W. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med [Internet]. [cited 2017 Feb 26]; 188(8), 913\u201322. Available from: https:\/\/doi.org\/10.1164\/rccm.201301-0059CI (2013 Oct 15).","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"issue":"1","key":"45017_CR3","doi-asserted-by":"publisher","first-page":"1601181","DOI":"10.1183\/13993003.01181-2016","volume":"49","author":"Myrofora Goutaki","year":"2016","unstructured":"Goutaki, M. et al. The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results. Eur Respir J [Internet]. [cited 2017 Feb 26]; 49(1), 1601181. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28052956 (2017 Jan).","journal-title":"European Respiratory Journal"},{"issue":"2","key":"45017_CR4","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1002\/ppul.23304","volume":"51","author":"Adam J. Shapiro","year":"2015","unstructured":"Shapiro, A. J. et al. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol [Internet]. [cited 2017 Feb 26]; 51(2), 115\u201332. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26418604 (2016 Feb).","journal-title":"Pediatric Pulmonology"},{"issue":"3","key":"45017_CR5","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1183\/13993003.00776-2015","volume":"47","author":"Claudius Werner","year":"2015","unstructured":"Werner, C. et al. An international registry for primary ciliary dyskinesia. Eur Respir J [Internet]. [cited 2017 Feb 26]; 47(3), 849\u201359. Available from: https:\/\/doi.org\/10.1183\/13993003.00776-2015 (2016 Mar).","journal-title":"European Respiratory Journal"},{"key":"#cr-split#-45017_CR6.1","unstructured":"Werner, C., Onnebrink, J. G. & Omran, H. Diagnosis and management of primary ciliary dyskinesia. Cilia [Internet]. [cited 2017 Feb 26]"},{"key":"#cr-split#-45017_CR6.2","unstructured":"4(1), 2. Available from: http:\/\/www.ciliajournal.com\/content\/4\/1\/2 (2015)."},{"key":"45017_CR7","unstructured":"Shoemark, A. et al. Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia. Am J Respir Crit Care Med [Internet]. [cited 2017 Mar 4];rccm.201607-1351OC. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28199173 (2017 Feb 15)."},{"issue":"6","key":"45017_CR8","doi-asserted-by":"publisher","first-page":"1248","DOI":"10.1183\/09031936.00001010","volume":"36","author":"C. E. Kuehni","year":"2010","unstructured":"Kuehni, C. et al. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J.; 36(6), 1248\u201358 (2010 Jul 6).","journal-title":"European Respiratory Journal"},{"issue":"1","key":"45017_CR9","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1164\/rccm.201702-0426ED","volume":"196","author":"Michael R. Knowles","year":"2017","unstructured":"Knowles, M. R. & Leigh, M. W. Primary Ciliary Dyskinesia Diagnosis. Is Color Better Than Black and White? Am J Respir Crit Care Med [Internet]. [cited 2017 Aug 18]; 196(1), 9\u201310, Available from: https:\/\/doi.org\/10.1164\/rccm.201702-0426ED (2017 Jul 1).","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"issue":"4","key":"45017_CR10","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1164\/rccm.200303-365OC","volume":"169","author":"Peadar G. Noone","year":"2004","unstructured":"Noone, P. G. et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med [Internet]. [cited 2017 Feb 26]; 169(4), 459\u201367. Available from: https:\/\/doi.org\/10.1164\/rccm.200303-365OC (2004 Feb 15).","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"45017_CR11","doi-asserted-by":"crossref","unstructured":"Contarini, M. et al. Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis. Multidiscip Respir Med [Internet]. BioMed Central; [cited 2019 May 4]; 13(Suppl 1), 26. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30151188 (2018).","DOI":"10.1186\/s40248-018-0143-6"},{"issue":"2","key":"45017_CR12","doi-asserted-by":"publisher","first-page":"1801365","DOI":"10.1183\/13993003.01365-2018","volume":"52","author":"Sejal Saglani","year":"2018","unstructured":"Saglani, S. Lung function in primary ciliary dyskinesia: breaking the myth that this is a mild disease. Eur Respir J [Internet]. [cited 2018 Sep 26]; 52(2), 1801365. Available from: https:\/\/doi.org\/10.1183\/13993003.01365-2018 (2018 Aug 23).","journal-title":"European Respiratory Journal"},{"issue":"1","key":"45017_CR13","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1152\/japplphysiol.00629.2010","volume":"111","author":"Mary A. K. Olm","year":"2011","unstructured":"Olm, M. A. K. et al. Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images. J Appl Physiol [Internet]. [cited 2017 Feb 26]; 111(1), 295\u2013302. Available from: https:\/\/doi.org\/10.1152\/japplphysiol.00629.2010 (2011 Jul 1).","journal-title":"Journal of Applied Physiology"},{"issue":"6","key":"45017_CR14","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1183\/09031936.03.00038803","volume":"22","author":"J. Vaughan","year":"2003","unstructured":"Vaughan, J. et al. Exhaled breath condensate pH is a robust and reproducible assay of airway acidity. Eur Respir J [Internet]. [cited 2018 Jul 4]; 22(6), 889\u201394. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/14680074 (2003 Dec).","journal-title":"European Respiratory Journal"},{"key":"45017_CR15","doi-asserted-by":"crossref","unstructured":"Goto, D. M. et al. Furosemide impairs nasal mucociliary clearance in humans. Respir Physiol Neurobiol [Internet]. [cited 2018 Jul 4]; 170(3), 246\u201352. Available from: http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S156990481000042X (2010 Mar 31).","DOI":"10.1016\/j.resp.2010.01.013"},{"key":"45017_CR16","doi-asserted-by":"crossref","unstructured":"Shoemark, A., Ozerovitch, L. & Wilson, R. Aetiology in adult patients with bronchiectasis. Respir Med [Internet]. [cited 2018 Oct 12]; 101(6), 1163\u201370. Available from: http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0954611106005968 (2007 Jun).","DOI":"10.1016\/j.rmed.2006.11.008"},{"issue":"4","key":"45017_CR17","doi-asserted-by":"publisher","first-page":"1081","DOI":"10.1183\/13993003.00736-2016","volume":"48","author":"Myrofora Goutaki","year":"2016","unstructured":"Goutaki, M. et al. Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis. Eur Respir J [Internet]. [cited 2017 Aug 18]; 48(4), 1081\u201395. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27492829 (2016 Oct).","journal-title":"European Respiratory Journal"},{"issue":"143","key":"45017_CR18","doi-asserted-by":"publisher","first-page":"160058","DOI":"10.1183\/16000617.0058-2016","volume":"26","author":"Nisreen Rumman","year":"2017","unstructured":"Rumman, N., et al. Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries. Eur Respir Rev [Internet]. [cited 2017 Mar 4]; 26(143), 160058. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28096286 (2017 Jan 17).","journal-title":"European Respiratory Review"},{"key":"45017_CR19","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/j.rmed.2016.08.015","volume":"119","author":"Revital Abitbul","year":"2016","unstructured":"Abitbul, R. et al. Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices. Respir Med [Internet]. [cited 2018 Oct 14]; 119:41\u20137. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27692146 (2016 Oct).","journal-title":"Respiratory Medicine"},{"key":"45017_CR20","doi-asserted-by":"crossref","unstructured":"Davis, S. D. et al. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. Am J Respir Crit Care Med [Internet]. American Thoracic Society; [cited 2017 Nov 21]; 191(3), 316\u201324. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25493340 (2015 Feb 1).","DOI":"10.1164\/rccm.201409-1672OC"},{"issue":"12","key":"45017_CR21","doi-asserted-by":"publisher","first-page":"e24","DOI":"10.1164\/rccm.201805-0819ST","volume":"197","author":"Adam J. Shapiro","year":"2018","unstructured":"Shapiro, A, J. et al. Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med [Internet]. [cited 2018 Aug 31]; 197(12), e24\u201339. Available from: https:\/\/doi.org\/10.1164\/rccm.201805-0819ST (2018 Jun 15).","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"45017_CR22","unstructured":"Dalrymple, R. A. & Kenia, P. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia: a guideline review. Arch Dis Child - Educ Pract Ed [Internet]. [cited 2018 Aug 31];edpract-2017-312902. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30076157 (2018 Aug 3)."},{"issue":"2","key":"45017_CR23","doi-asserted-by":"publisher","first-page":"1801040","DOI":"10.1183\/13993003.01040-2018","volume":"52","author":"Florian S. Halbeisen","year":"2018","unstructured":"Halbeisen, F. S. et al. Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study. Eur Respir J [Internet]. [cited 2018 Oct 12]; 52(2), 1801040. Available from: https:\/\/doi.org\/10.1183\/13993003.01040-2018 (2018 Aug).","journal-title":"European Respiratory Journal"},{"issue":"12","key":"45017_CR24","doi-asserted-by":"publisher","first-page":"1243","DOI":"10.1002\/ppul.22984","volume":"49","author":"Marco Maglione","year":"2014","unstructured":"Maglione, M. et al. Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia. Pediatr Pulmonol [Internet]. [cited 2018 Jul 9]; 49(12), 1243\u201350. Available from: https:\/\/doi.org\/10.1002\/ppul.22984 (2014 Dec).","journal-title":"Pediatric Pulmonology"},{"key":"45017_CR25","doi-asserted-by":"crossref","unstructured":"Kuehni, C. E. & Lucas, J. S. Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report. Breathe [Internet]. [cited 2018 Oct 12]; 13(3), 166\u201378. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28894478 (2017 Sep).","DOI":"10.1183\/20734735.008517"},{"issue":"3","key":"45017_CR26","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1183\/13993003.01914-2015","volume":"47","author":"Eric G. Haarman","year":"2016","unstructured":"Haarman, E. G. & Schmidts, M. Accuracy of diagnostic testing in primary ciliary dyskinesia: are we there yet? Eur Respir J [Internet]. [cited 2017 Feb 26]; 47(3), 699\u2013701. Available from: https:\/\/doi.org\/10.1183\/13993003.01914-2015 (2016 Mar 29).","journal-title":"European Respiratory Journal"},{"key":"45017_CR27","doi-asserted-by":"crossref","unstructured":"Horani, A., Ferkol, T. W., Dutcher, S. K. & Brody, S. L. Genetics and biology of primary ciliary dyskinesia. Paediatr Respir Rev [Internet]. NIH Public Access; [cited 2019 May 4]; 18:18\u201324. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26476603 (2016 Mar).","DOI":"10.1016\/j.prrv.2015.09.001"},{"key":"45017_CR28","doi-asserted-by":"crossref","unstructured":"Moore, A. et al. RPGR is mutated in patients with a coplex X linked phenotype combining primary ciliary dyskinesia. J Med Genet. 43_ _:326\u201333 (2006).","DOI":"10.1136\/jmg.2005.034868"},{"issue":"4","key":"45017_CR29","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1002\/ppul.22632","volume":"48","author":"Zuzanna Bukowy-Biery\u0142\u0142o","year":"2012","unstructured":"Bukowy-Biery\u0142\u0142o, Z. et al. RPGR mutations might cause reduced orientation of respiratory cilia. Pediatr Pulmonol [Internet]. [cited 2019 May 4]; 48(4), 352\u201363. Available from: https:\/\/doi.org\/10.1002\/ppul.22632 (2013 Apr).","journal-title":"Pediatric Pulmonology"},{"key":"45017_CR30","doi-asserted-by":"crossref","unstructured":"Davis, M. D. & Hunt, J. Exhaled Breath Condensate pH Assays. Immunol Allergy Clin North Am [Internet]. [cited 2018 Oct 14]; 32(3), 377\u201386. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22877616 (2012 Aug).","DOI":"10.1016\/j.iac.2012.06.003"},{"key":"#cr-split#-45017_CR31.1","unstructured":"Bikov, A. & Horvath, I. Methodological Issues and Possible Clinical Implications for Exhaled Breath Condensate pH in Asthma. Curr Top Med Chem [Internet]. [cited 2018 Oct 14]"},{"key":"#cr-split#-45017_CR31.2","unstructured":"16(14), 1550-60. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26420368 (2016)."},{"key":"45017_CR32","doi-asserted-by":"crossref","unstructured":"Behan, L. et al. PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia. Eur Respir J [Internet]. European Respiratory Society; [cited 2017 Aug 18]; 47(4), 1103\u201312. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26917608 (2016 Apr).","DOI":"10.1183\/13993003.01551-2015"},{"key":"45017_CR33","doi-asserted-by":"crossref","unstructured":"Athanazio, R. et al. Latin America validation of FACED score in patients with bronchiectasis: an analysis of six cohorts. BMC Pulm Med [Internet]. BioMed Central; [cited 2018 Mar 11]; 17(1), 73. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28446170 (2017 Apr 26).","DOI":"10.1186\/s12890-017-0417-3"},{"issue":"2","key":"45017_CR34","doi-asserted-by":"publisher","first-page":"e57262","DOI":"10.1371\/journal.pone.0057262","volume":"8","author":"June Kehlet Marthin","year":"2013","unstructured":"Marthin, J. K. & Nielsen, K. G. Hand-held tidal breathing nasal nitric oxide measurement\u2013a promising targeted case-finding tool for the diagnosis of primary ciliary dyskinesia. Watz H, editor. PLoS One [Internet]. [cited 2017 Feb 26]; 8(2), e57262. Available from: https:\/\/doi.org\/10.1371\/journal.pone.0057262 (2013 Feb 20).","journal-title":"PLoS ONE"},{"issue":"18","key":"45017_CR35","first-page":"1","volume":"14","author":"A Harris","year":"2014","unstructured":"Harris, A. et al. Validation of portable nitric oxide analyzer for screening in primary ciliary dyskinesias. BMC Pulm Med. 14(18), 1\u20138 (2014).","journal-title":"BMC Pulm Med."},{"issue":"10","key":"45017_CR36","doi-asserted-by":"publisher","first-page":"1063","DOI":"10.1111\/j.1365-2362.2011.02501.x","volume":"41","author":"Silvia Montella","year":"2011","unstructured":"Montella, S. et al. Measurement of nasal nitric oxide by hand-held and stationary devices. Eur J Clin Invest [Internet]. [cited 2017 Aug 18]; 41(10), 1063\u201370. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21413977 (2011 Oct).","journal-title":"European Journal of Clinical Investigation"},{"key":"45017_CR37","doi-asserted-by":"crossref","unstructured":"Chilvers, M. A., Rutman, A. & O\u2019Callaghan, C. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia. J Allergy Clin Immunol [Internet]. [cited 2017 Feb 26]; 112(3), 518\u201324. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/13679810 (2003 Sep).","DOI":"10.1016\/S0091-6749(03)01799-8"},{"issue":"6","key":"45017_CR38","doi-asserted-by":"publisher","first-page":"1579","DOI":"10.1183\/09031936.00052014","volume":"44","author":"J Raidt","year":"2014","unstructured":"Raidt, J. et al. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. Eur Respir J. Sep 3 44(6), 1579\u201388 (2014).","journal-title":"Eur Respir J. Sep 3"},{"key":"45017_CR39","unstructured":"Lucas, J. S. et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J [Internet]. European Respiratory Society; [cited 2017 Nov 21]; 49(1), 1601090. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27836958 (2017 Jan 1)."},{"key":"45017_CR40","doi-asserted-by":"crossref","unstructured":"Rutland, J., Dewar, A., Cox, T. & Cole, P. Nasal brushing for the study of ciliary ultrastructure. J Clin Pathol.; 35_ _(3), 357\u20139 (1982).","DOI":"10.1136\/jcp.35.3.357"},{"key":"45017_CR41","doi-asserted-by":"crossref","unstructured":"Shoemark, A., Dixon, M., Corrin, B. & Dewar, A. Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia. J Clin Pathol. 65(3), 267\u201371 (2012 Mar).","DOI":"10.1136\/jclinpath-2011-200415"},{"key":"45017_CR42","doi-asserted-by":"crossref","unstructured":"Carl\u00e9n, B, & Stenram, U. Primary ciliary dyskinesia: a review. Ultrastruct Pathol.; 29(3\u20134), 217\u201320 (2005 May).","DOI":"10.1080\/01913120590951220"},{"key":"#cr-split#-45017_CR43.1","unstructured":"Roomans, G. M., Ivanovs, A., Shebani, E. B. & Johannesson M. Transmission electron microscopy in the diagnosis of primary ciliary dyskinesia. Ups J Med Sci [Internet]. [cited 2017 Feb 26]"},{"key":"#cr-split#-45017_CR43.2","unstructured":"111(1), 155-68. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/16553254 (2006)."},{"key":"#cr-split#-45017_CR44.1","unstructured":"de Pereira, C. A., Duarte, A. A. O., Gimenez, A. & Soares, M. R. Comparison between reference values for FVC, FEV1, and FEV1\/FVC ratio in White adults in Brazil and those suggested by the Global Lung Function Initiative. J Bras Pneumol [Internet]. [cited 2018 Aug 3]"},{"key":"#cr-split#-45017_CR44.2","unstructured":"40(4), 397-402. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25210962 (2012)."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-019-45017-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-019-45017-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-019-45017-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,17]],"date-time":"2022-12-17T10:27:58Z","timestamp":1671272878000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-019-45017-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,18]]},"references-count":48,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2019,12]]}},"alternative-id":["45017"],"URL":"https:\/\/doi.org\/10.1038\/s41598-019-45017-1","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,18]]},"assertion":[{"value":"23 January 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 May 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 June 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"8693"}}