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Central hypoventilation with PHOX2B expansion mutation presenting in adulthood
The case history is described of a 41 year old male who presented with acute-on-chronic respiratory failure due to PHOX2B mutation-associated central hypoventilation with a quantified impaired response to hypercapnia. He was successfully treated with non-invasive ventilation, which has been continue...
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| Main Authors: | , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BMJ Publishing Group
2009
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3029870/ https://ncbi.nlm.nih.gov/pubmed/21686548 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.09.2008.0946 |
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