Guidelines for diagnosis and management of congenital central hypoventilation syndrome
Guidelines for diagnosis and management of congenital central hypoventilation syndrome
About this item
Full title
Author / Creator
Trang, Ha , Samuels, Martin , Ceccherini, Isabella , Frerick, Matthias , Garcia-Teresa, Maria Angeles , Peters, Jochen , Schoeber, Johannes , Migdal, Marek , Markstrom, Agneta , Ottonello, Giancarlo , Piumelli, Raffaele , Estevao, Maria Helena , Senecic-Cala, Irena , Gnidovec-Strazisar, Barbara , Pfleger, Andreas , Porto-Abal, Raquel and Katz-Salamon, Miriam
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a...
Alternative Titles
Full title
Guidelines for diagnosis and management of congenital central hypoventilation syndrome
Authors, Artists and Contributors
Author / Creator
Samuels, Martin
Ceccherini, Isabella
Frerick, Matthias
Garcia-Teresa, Maria Angeles
Peters, Jochen
Schoeber, Johannes
Migdal, Marek
Markstrom, Agneta
Ottonello, Giancarlo
Piumelli, Raffaele
Estevao, Maria Helena
Senecic-Cala, Irena
Gnidovec-Strazisar, Barbara
Pfleger, Andreas
Porto-Abal, Raquel
Katz-Salamon, Miriam
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_6d484979e66841ffb1ce84f9a23224fe
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6d484979e66841ffb1ce84f9a23224fe
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-020-01460-2
