Central hypoventilation with PHOX2B expansion mutation presenting in adulthood

Shaney Barratt; Adrian Kendrick; Fiona Buchanan; Adam Whittle

doi:10.1136/bcr.09.2008.0946

Central hypoventilation with PHOX2B expansion mutation presenting in adulthood

Shaney Barratt
, Adrian Kendrick
, Fiona Buchanan
, Adam Whittle

Research output: Contribution to journal › Article (Academic Journal) › peer-review

2 Citations (Scopus)

Abstract

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 continued nocturnally at home.

Original language	English
Journal	BMJ Case Reports
Volume	2009
DOIs	https://doi.org/10.1136/bcr.09.2008.0946
Publication status	Published - 2009

Research Groups and Themes

Academic Respiratory Unit

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10.1136/bcr.09.2008.0946

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title = "Central hypoventilation with PHOX2B expansion mutation presenting in adulthood",

abstract = "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 continued nocturnally at home.",

author = "Shaney Barratt and Adrian Kendrick and Fiona Buchanan and Adam Whittle",

year = "2009",

doi = "10.1136/bcr.09.2008.0946",

language = "English",

volume = "2009",

journal = "BMJ Case Reports",

issn = "1757-790X",

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TY - JOUR

T1 - Central hypoventilation with PHOX2B expansion mutation presenting in adulthood

AU - Barratt, Shaney

AU - Kendrick, Adrian

AU - Buchanan, Fiona

AU - Whittle, Adam

PY - 2009

Y1 - 2009

N2 - 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 continued nocturnally at home.

AB - 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 continued nocturnally at home.

U2 - 10.1136/bcr.09.2008.0946

DO - 10.1136/bcr.09.2008.0946

M3 - Article (Academic Journal)

C2 - 21686548

SN - 1757-790X

VL - 2009

JO - BMJ Case Reports

JF - BMJ Case Reports

ER -

Central hypoventilation with PHOX2B expansion mutation presenting in adulthood

Abstract

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