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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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Detalhes bibliográficos
Principais autores: Barratt, Shaney, Kendrick, Adrian, Buchanan, Fiona, Whittle, Adam
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2009
Assuntos:
Acesso em linha: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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