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Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis
The methionyl-tRNA synthetase (MARS) mutation is a very rare cause of congenital pulmonary alveolar proteinosis. We report a 6-month-old boy born with symmetrical intrauterine growth retardation presented with unexplained persistent tachypnea and hypoxemia associated with severe failure to thrive, a...
Autores principales: | Alzaid, Mohammed, Alshamrani, Abdullah, Harbi, Adel S. Al, Alenzi, Ayed, Mohamed, Sarar |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Saudi Medical Journal
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402458/ https://www.ncbi.nlm.nih.gov/pubmed/30723866 http://dx.doi.org/10.15537/smj.2019.2.23908 |
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