{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T00:42:58Z","timestamp":1778546578267,"version":"3.51.4"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T00:00:00Z","timestamp":1714348800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T00:00:00Z","timestamp":1714348800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"DOI":"10.1007\/s00431-024-05574-8","type":"journal-article","created":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T03:09:57Z","timestamp":1714360197000},"page":"3193-3197","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Neonatal diagnosis of primary ciliary dyskinesia in a high consanguinity population: a single tertiary center experience"],"prefix":"10.1007","volume":"183","author":[{"given":"Noga","family":"Arwas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dvir","family":"Gatt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micha","family":"Aviram","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramy","family":"Abramsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Hazan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aviv","family":"Goldbart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Israel","family":"Amirav","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inbal","family":"Golan-Tripto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,4,29]]},"reference":[{"issue":"145","key":"5574_CR1","doi-asserted-by":"crossref","DOI":"10.1183\/16000617.0023-2017","volume":"26","author":"B Rubbo","year":"2017","unstructured":"Rubbo B, Lucas JS (2017) Clinical care for primary ciliary dyskinesia: current challenges and future directions. Eur Respir Rev 26(145):170023","journal-title":"Eur Respir Rev"},{"key":"5574_CR2","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.jpeds.2013.01.061","volume":"163","author":"TW Ferkol","year":"2013","unstructured":"Ferkol TW, Puffenberger EG, Lie H et al (2013) Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. J Pediatr 163:383\u2013387","journal-title":"J Pediatr"},{"key":"5574_CR3","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1038\/ejhg.2014.79","volume":"23","author":"JP Casey","year":"2015","unstructured":"Casey JP, McGettigan PA, Healy F et al (2015) Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. Eur J Hum Genet 23:210\u2013217","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"5574_CR4","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1016\/S2213-2600(19)30374-1","volume":"8","author":"JS Lucas","year":"2020","unstructured":"Lucas JS, Davis SD, Omran H, Shoemark A (2020) Primary ciliary dyskinesia in the genomics age. Lancet Respir Med 8(2):202\u2013216. https:\/\/doi.org\/10.1016\/S2213-2600(19)30374-1. Epub 2019 Oct 14 PMID: 31624012","journal-title":"Lancet Respir Med"},{"issue":"5","key":"5574_CR5","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/S2213-2600(21)00453-7","volume":"10","author":"WB Hannah","year":"2022","unstructured":"Hannah WB, Seifert BA, Truty R, Zariwala MA, Ameel K, Zhao Y, Nykamp K, Gaston B (2022) The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis. Lancet Respir Med 10(5):459\u2013468","journal-title":"Lancet Respir Med"},{"key":"5574_CR6","doi-asserted-by":"publisher","unstructured":"Horani A, Ferkol TW (2021) Understanding primary ciliary dyskinesia and other ciliopathies. J Pediatr 230:15\u201322.e1. https:\/\/doi.org\/10.1016\/j.jpeds.2020.11.040. Epub 2020 Nov 23. PMID: 33242470; PMCID: PMC8690631","DOI":"10.1016\/j.jpeds.2020.11.040"},{"issue":"8","key":"5574_CR7","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1513\/AnnalsATS.201511-748OC","volume":"13","author":"MW Leigh","year":"2016","unstructured":"Leigh MW, Ferkol TW, Davis SD et al (2016) Clinical features and associated likelihood of primary ciliary dyskinesia in children and adolescents. Ann Am Thorac Soc 13(8):1305\u20131313","journal-title":"Ann Am Thorac Soc"},{"issue":"6","key":"5574_CR8","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1183\/09031936.00001010","volume":"36","author":"CE Kuehni","year":"2010","unstructured":"Kuehni CE, Frischer T, Strippoli MP et al (2010) ERS Task Force on primary ciliary dyskinesia in children. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J 36(6):1248\u201358","journal-title":"Eur Respir J"},{"issue":"8","key":"5574_CR9","doi-asserted-by":"publisher","first-page":"913","DOI":"10.1164\/rccm.201301-0059CI","volume":"188","author":"MR Knowles","year":"2013","unstructured":"Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW (2013) Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med 188(8):913\u201322. https:\/\/doi.org\/10.1164\/rccm.201301-0059CI. PMID: 23796196; PMCID: PMC3826280","journal-title":"Am J Respir Crit Care Med"},{"issue":"6","key":"5574_CR10","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1111\/j.1651-2227.2002.tb03299.x","volume":"91","author":"ME Coren","year":"2002","unstructured":"Coren ME, Meeks M, Morrison I, Buchdahl RM, Bush A (2002) Primary ciliary dyskinesia: age at diagnosis and symptom history. Acta Paediatr 91(6):667\u2013669","journal-title":"Acta Paediatr"},{"issue":"6","key":"5574_CR11","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1053\/j.semperi.2005.11.001","volume":"30","author":"T Ferkol","year":"2006","unstructured":"Ferkol T, Leigh M (2006) Primary ciliary dyskinesia and newborn respiratory distress. Semin Perinatol 30(6):335\u2013340","journal-title":"Semin Perinatol"},{"issue":"4","key":"5574_CR12","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1007\/s12687-014-0188-y","volume":"5","author":"W Na\u2019amnih","year":"2014","unstructured":"Na\u2019amnih W, Romano-Zelekha O, Kabaha A, Rubin LP, Bilenko N, Jaber L, Honovich M, Shohat T (2014) Prevalence of consanguineous marriages and associated factors among Israeli Bedouins. J Community Genet 5(4):395\u20138. https:\/\/doi.org\/10.1007\/s12687-014-0188-y. Epub 2014 May 10. PMID: 24816554; PMCID: PMC4159474","journal-title":"J Community Genet"},{"key":"5574_CR13","doi-asserted-by":"publisher","unstructured":"Gatt D, Golan Tripto I, Levanon E, Arwas N, Hazan G, Alkrinawi S, Goldbart AD, Aviram M (2024) Stepwise genetic approach for the diagnosis of primary ciliary dyskinesia in highly consanguineous populations. Arch Dis Child archdischild-2023\u2013325921.\u00a0https:\/\/doi.org\/10.1136\/archdischild-2023-325921. Epub ahead of print. PMID: 38296613","DOI":"10.1136\/archdischild-2023-325921"},{"key":"5574_CR14","doi-asserted-by":"publisher","unstructured":"Edwards MO, Kotecha SJ, Kotecha S (2013) Respiratory distress of the term newborn infant. Paediatr Respir Rev 14(1):29\u201336; quiz 36\u20137.\u00a0https:\/\/doi.org\/10.1016\/j.prrv.2012.02.002. Epub 2012 Mar 2. PMID: 23347658","DOI":"10.1016\/j.prrv.2012.02.002"},{"key":"5574_CR15","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1038\/sj.jp.7210987","volume":"23","author":"T Hossain","year":"2003","unstructured":"Hossain T, Kappelman M, Perez-Atayde A et al (2003) Primary ciliary dyskinesia as a cause of neonatal respiratory distress: implications for the neonatologist. J Perinatol 23:684\u2013687","journal-title":"J Perinatol"},{"key":"5574_CR16","doi-asserted-by":"crossref","unstructured":"Goutaki M, Halbeisen FS, Barbato A et al (2020) Late diagnosis of infants with PCD and neonatal respiratory distress. J\u00a0Clin Med 9:2871","DOI":"10.3390\/jcm9092871"},{"issue":"10","key":"5574_CR17","doi-asserted-by":"crossref","first-page":"2376","DOI":"10.1183\/09031936.97.10102376","volume":"10","author":"A Ellerman","year":"1997","unstructured":"Ellerman A, Bisgaard H (1997) Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. Eur Respir J 10(10):2376\u20132379","journal-title":"Eur Respir J"},{"issue":"4","key":"5574_CR18","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1164\/rccm.200303-365OC","volume":"169","author":"PG Noone","year":"2004","unstructured":"Noone PG, Leigh MW, Sannuti A, Minnix SL, Carson JL, Hazucha M, Zariwala MA, Knowles MR (2004) Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 169(4):459\u2013467","journal-title":"Am J Respir Crit Care Med"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-024-05574-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00431-024-05574-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-024-05574-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,22]],"date-time":"2024-07-22T20:19:12Z","timestamp":1721679552000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00431-024-05574-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,29]]},"references-count":18,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2024,8]]}},"alternative-id":["5574"],"URL":"https:\/\/doi.org\/10.1007\/s00431-024-05574-8","relation":{},"ISSN":["1432-1076"],"issn-type":[{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,29]]},"assertion":[{"value":"24 February 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 April 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 April 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 April 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of Soroka University Medical Center.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}