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A non-BRICHOS surfactant protein c mutation disrupts epithelial cell function and intercellular signaling

artículo científico publicado en 2010

ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.

artículo científico publicado en 2018

Comorbidity and long-term clinical outcome of laryngotracheal clefts type III and IV: Systematic analysis of new cases

artículo científico publicado en 2020

Delivery of Alpha-1 Antitrypsin to Airways

artículo científico publicado en 2016

Development and validation of a health-related quality of life questionnaire for pediatric patients with interstitial lung disease

artículo científico publicado en 2018

Do Not Miss Acute Diffuse Panbronchiolitis for Tree-in-Bud: Case Series of a Rare Lung Disease

artículo científico publicado en 2022

Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.

artículo científico publicado en 2018

Heterozygous <i>OAS1</i> gain-of-function variants cause an autoinflammatory immunodeficiency

artículo científico publicado en 2021

Lung ultrasound-a new diagnostic modality in persistent tachypnea of infancy

scientific article published on 24 January 2020

Lymphocytic interstitial pneumonia and follicular bronchiolitis in children: A registry-based case series

scientific article published on 10 February 2020

Persistent Tachypnea of Infancy. Usual and Aberrant

artículo científico publicado en 2015

Persistent tachypnea of infancy - Follow up at school age

artículo científico publicado en 2020

Potentiation of ABCA3 lipid transport function by ivacaftor and genistein

scientific article published on 18 June 2019

Prospective evaluation of hydroxychloroquine in pediatric interstitial lung diseases: Study protocol for an investigator-initiated, randomized controlled, parallel-group clinical trial

scientific article published on 03 April 2020

Pushing chILD Forward: The Bright Future of Children's Interstitial Lung Diseases.

artículo científico publicado en 2015

Quantitative Lipidomics in Pulmonary Alveolar Proteinosis

artículo científico publicado en 2019

Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants

artículo científico publicado en 2020

Surfactant lipidomics in healthy children and childhood interstitial lung disease

artículo científico publicado en 2015

The Human Phenotype Ontology in 2024: phenotypes around the world

artículo científico publicado en 2023

The surfactant protein C mutation A116D alters cellular processing, stress tolerance, surfactant lipid composition, and immune cell activation

artículo científico publicado en 2012

Variation in the Bombesin Staining of Pulmonary Neuroendocrine Cells in Pediatric Pulmonary Disorders - A Useful Marker for Airway Maturity

scientific article published on 18 June 2020

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