A disorder of surfactant metabolism without identified genetic mutations

BACKGROUND: Surfactant metabolism disorders may result in diffuse lung disease in children. CASE PRESENTATION: We report a 3-years-old boy with dry cough, progressive hypoxemia, dyspnea and bilateral ground glass opacities at chest high-resolution computed tomography (HRCT) who had no variants in ge...

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Bibliographic Details
Published in:Ital J Pediatr
Main Authors: Montella, Silvia, Vece, Timothy J., Langston, Claire, Carrera, Paola, Nogee, Lawrence M., Hamvas, Aaron, Manna, Angelo, Cervasio, Mara, Santamaria, Francesca
Format: Artigo
Language:Inglês
Published: BioMed Central 2015
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4658764/
https://ncbi.nlm.nih.gov/pubmed/26606984
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-015-0198-3
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