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

24 Aug 2020

Abstract excerpt

BACKGROUND: Pulmonary alveolar proteinosis (PAP) is a heterogeneous condition with more than 100 different underlying disorders that need to be differentiated to target therapeutic options, which are generally limited. METHODS: The clinical course of two brothers with pathogenic variants in the methionyl-tRNA synthetase (MARS)1 gene was compared to previously published patients. Functional studies in...

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PMID: 32833345
DOI: 10.1002/ppul.25031

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