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罕见病药物的可及性:为原发性纤毛运动障碍疾呼

Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia.

作者信息

Crowley Suzanne, Azevedo Inês, Boon Mieke, Bush Andrew, Eber Ernst, Haarman Eric, Karadag Bulent, Kötz Karsten, Leigh Margaret, Moreno-Galdó Antonio, Mussaffi Huda, Nielsen Kim G, Omran Heymut, Papon Jean-François, Pohunek Petr, Priftis Kostas, Rindlisbacher Bernhard, Santamaria Francesca, Valiulis Arunas, Witt Michal, Yiallouros Panayiotis, Zivkovic Zorica, Kuehni Claudia E, Lucas Jane S

机构信息

Paediatric Dept for Lung and Allergic diseases, Oslo University Hospital, Oslo, Norway.

Centro Materno-Pediátrico, Centro Hospitalar Universitário de S. João, Porto, Portugal.

出版信息

ERJ Open Res. 2020 Sep 14;6(3). doi: 10.1183/23120541.00377-2020. eCollection 2020 Jul.

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Primary ciliary dyskinesia in the genomics age.
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The burden of rare diseases.
Am J Med Genet A. 2019 Jun;179(6):885-892. doi: 10.1002/ajmg.a.61124. Epub 2019 Mar 18.
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Dornase alfa for cystic fibrosis.
Cochrane Database Syst Rev. 2018 Sep 6;9(9):CD001127. doi: 10.1002/14651858.CD001127.pub4.
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Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study.
Eur Respir J. 2018 Aug 23;52(2). doi: 10.1183/13993003.01040-2018. Print 2018 Aug.
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Variation in treatment strategies for the eradication of Pseudomonas aeruginosa in primary ciliary dyskinesia across European centers.
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