B. Rubin
{"title":"原发性纤毛运动障碍","authors":"B. Rubin","doi":"10.1542/9781610021432-part05-ch70","DOIUrl":null,"url":null,"abstract":"*Corresponding author. E-mail address: miguel.armengot@gmail.com (M. Armengot Carceller). Abstract Primary ciliary dyskinesia is a genetically inherited syndrome characterised by ciliary immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections from birth, male sterility by spermatozoid immotility and situs inversus in 40%-50% of patients (Kartagener’s syndrome). Diagnosis is made by analysing ciliary motility with high-speed digital video and ciliary ultrastructure. The wide distribution and functions of the cilia in the body mean that this dysfunction can generate other ciliopathies apart from primary ciliary dyskinesia. © 2008 Elsevier España, S.L. All rights reserved.","PeriodicalId":376952,"journal":{"name":"Pediatric Pulmonology, Asthma, and Sleep Medicine: A Quick Reference Guide","volume":"38 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2018-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Primary Ciliary Dyskinesia\",\"authors\":\"B. Rubin\",\"doi\":\"10.1542/9781610021432-part05-ch70\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"*Corresponding author. E-mail address: miguel.armengot@gmail.com (M. Armengot Carceller). Abstract Primary ciliary dyskinesia is a genetically inherited syndrome characterised by ciliary immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections from birth, male sterility by spermatozoid immotility and situs inversus in 40%-50% of patients (Kartagener’s syndrome). Diagnosis is made by analysing ciliary motility with high-speed digital video and ciliary ultrastructure. The wide distribution and functions of the cilia in the body mean that this dysfunction can generate other ciliopathies apart from primary ciliary dyskinesia. © 2008 Elsevier España, S.L. All rights reserved.\",\"PeriodicalId\":376952,\"journal\":{\"name\":\"Pediatric Pulmonology, Asthma, and Sleep Medicine: A Quick Reference Guide\",\"volume\":\"38 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Pulmonology, Asthma, and Sleep Medicine: A Quick Reference Guide\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1542/9781610021432-part05-ch70\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Pulmonology, Asthma, and Sleep Medicine: A Quick Reference Guide","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1542/9781610021432-part05-ch70","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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