High prevalence of CCDC103 p. His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic …

A Shoemark, E Moya, RA Hirst, MP Patel, EA Robson… - Thorax, 2018 - thorax.bmj.com
Rationale Primary ciliary dyskinesia is a genetically heterogeneous inherited condition
characterised by progressive lung disease arising from abnormal cilia function …

Progress in diagnosing primary ciliary dyskinesia: the North American perspective

MG O'Connor, A Horani, AJ Shapiro - Diagnostics, 2021 - mdpi.com
Primary Ciliary Dyskinesia (PCD) is a rare, under-recognized disease that affects respiratory
ciliary function, resulting in chronic oto-sino-pulmonary disease. The PCD clinical phenotype …

Primary ciliary dyskinesia, an orphan disease

M Boon, M Jorissen, M Proesmans… - European journal of …, 2013 - Springer
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific
primary structural and/or functional abnormalities of the motile cilia, in contrast with the …

Potential of the electronic nose for the detection of respiratory diseases with and without infection

JC Licht, H Grasemann - International Journal of Molecular Sciences, 2020 - mdpi.com
Respiratory tract infections are common, and when affecting the lower airways and lungs,
can result in significant morbidity and mortality. There is an unfilled need for simple, non …

[PDF][PDF] Chronic obstructive pulmonary disease-diagnosis and management of stable disease; a personalized approach to care, using the treatable traits concept based …

J Zatloukal, K Brat, K Neumannova… - … Papers of the …, 2020 - biomed.papers.upol.cz
Treatment of COPD should reflect the complexity and heterogeneity of the disease and be
tailored to individual patients. Major goals of COPD treatment are symptom reduction and …

Primary ciliary dyskinesia

J Lobo, MA Zariwala, PG Noone - Seminars in respiratory and …, 2015 - thieme-connect.com
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure,
function, and biogenesis leading to chronic infections of the respiratory tract, fertility …

Limitations of nasal nitric oxide measurement for diagnosis of primary ciliary dyskinesia with normal ultrastructure

J Raidt, H Krenz, J Tebbe… - Annals of the …, 2022 - atsjournals.org
Rationale: Primary ciliary dyskinesia (PCD) is a heterogeneous, multisystem disorder
characterized by defective ciliary beating. Diagnostic guidelines of the American Thoracic …

Presentation of primary ciliary dyskinesia in children: 30 years' experience

PH Hosie, DA Fitzgerald, A Jaffe… - … of paediatrics and …, 2015 - Wiley Online Library
Aim Primary ciliary dyskinesia (PCD) is a rare (1: 15 000) condition resulting in recurrent
suppurative respiratory tract infections, progressive lung damage and hearing impairment …

The RSPH4A Gene in Primary Ciliary Dyskinesia

W De Jesús-Rojas, J Meléndez-Montañez… - International Journal of …, 2023 - mdpi.com
The radial spoke head protein 4 homolog A (RSPH4A) gene is one of more than 50 genes
that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. Genetic mutations in …

[HTML][HTML] Clinical care for primary ciliary dyskinesia: current challenges and future directions

B Rubbo, JS Lucas - European Respiratory Review, 2017 - Eur Respiratory Soc
Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia,
leading to impaired mucociliary clearance. It is estimated that the vast majority of patients …