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...

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Detalles Bibliográficos
Autores principales: Alzaid, Mohammed, Alshamrani, Abdullah, Harbi, Adel S. Al, Alenzi, Ayed, Mohamed, Sarar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2019
Materias:
Case Report
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

Internet

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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