A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia—Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center

A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia—Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center

Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by dyskinetic cilia. Respiratory symptoms usually start at birth. The lack of diagnostic gold standard tests is challenging, as PCD diagnostics requires different methods with high expertise. We founded PCD-UNIBE as the first c...

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Bibliographic Details
Main Authors: Loretta Müller, Sibel T. Savas, Stefan A. Tschanz, Andrea Stokes, Anaïs Escher, Mirjam Nussbaumer, Marina Bullo, Claudia E. Kuehni, Sylvain Blanchon, Andreas Jung, Nicolas Regamey, Beat Haenni, Martin Schneiter, Jonas Ingold, Elisabeth Kieninger, Carmen Casaulta, Philipp Latzin, on behalf of the Swiss PCD Research Group
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Diagnostics
Subjects:
airways
ciliopathy
air-liquid interface cell culture
high-speed videomicroscopy
immunofluorescence
transmission electron microscopy
Online Access:https://www.mdpi.com/2075-4418/11/9/1540

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https://www.mdpi.com/2075-4418/11/9/1540

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