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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...
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| 出版年: | Saudi Med J |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Saudi Medical Journal
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6402458/ https://ncbi.nlm.nih.gov/pubmed/30723866 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15537/smj.2019.2.23908 |
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