Guidelines for diagnosis and management of congenital central hypoventilation syndrome

BACKGROUND: 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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: 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, Katz-Salamon, Miriam
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2020
Konular:
Review
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7503443/
https://ncbi.nlm.nih.gov/pubmed/32958024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01460-2
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller