Primary ciliary dyskinesia: overlooked and undertreated in children. J Paediatr Child Health 2014; 50: 952-958.Hosie, P., Fitzgerald, D. A., Jaffe, A., Birman, C. S. & Morgan, L. Primary ciliary dyskinesia: overlooked and undertreated in children. Journal of paediatrics and child health...
Primary ciliary dyskinesia: diagnosis in children with inconclusive ultrastructural evaluation. Pediatr Allerg Immunol. 2001;12(5):274–82.Pifferi M, Cangiotti AM, Ragazzo V, et al. Primary ciliary dyskinesia: diagnosis in children with inconclusive ultrastructural findings. Pediatr Allergy Immunol 2001...
关键词:群体测序;基因测序;变异检测;文献简介标题(英文):Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China标题(…
We present a 10-year-boy who came with recurrent respiratory-infections with Dextrocardia and bilateral Bronchiectasis for interesting clinical presentation.#PCD is rare inherited disease with mutations which impair normal cilia function, characterized by impaired muco-ciliary clearance, causing recurrent-...
Primary ciliary dyskinesia (PCD) is a recessive genetic disorder that is characterized by sinopulmonary disease and reflects abnormal ciliary structure and... - 《Circulation》 被引量: 384发表: 2007年 Primary ciliary dyskinesia (PCD) in children - age at diagnosis and symptom history Age at diagn...
PCD = primary ciliary dyskinesia. a Bronchiectasis in PCD shows a predominance for middle- and lower-lobe involvement. Approximately 80% of children with PCD have a history of neonatal respiratory distress at term birth,14,16 but this prevalence decreases for those who receive a diagnosis in adul...
Secondary ciliary dyskinesia may be seen in diseases associated with acute and chronic airway inflammation and infection. This review will focus primarily on PCD, the genetically transmitted form of the disease, with a brief review of the structure and function of normal and dysfunctional cilia, ...
Acta Paediatr 2002; 9(6): 667-9.Coren ME, Meeks M, Morrison I, Buchdahl RM, Bush A (2002) Primary ciliary dyskinesia: age at diagnosis and ... ME Coren,M Meeks,I Morrison,... - 《Acta Paediatrica》 被引量: 281发表: 2010年 Early diagnosis of primary ciliary dyskinesia in a newbo...
Cilia and ear: a study on adults affected by primary ciliary dyskinesia. Ann Otol Rhinol Laryngol. 2017;126(4):322-327. doi:10.1177/0003489417691299PubMedGoogle ScholarCrossref 13. Prulière-Escabasse V, Coste A, Chauvin P, et al. Otologic features in childre...
Primary Ciliary DyskinesiaJason Lobo, MD [Assistant Professor of Medicine], Maimoona A Zariwala, PhD [Associate Professor of Medicine and Laboratory Medicine], and Peadar G Noone, MD, FCCP, FRCPI [Professor of Medicine]The Division of Pulmonary Diseases, University of North Carolina Chapel Hill,...