Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

Documenti analoghi

• Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS)
  di: Di Lascio, Simona, et al.
  Pubblicazione: (2021)
• Nonsense Pathogenic Variants in Exon One of PHOX2B Lead to Translational Reinitiation in Congenital Central Hypoventilation Syndrome
  di: Cain, Jacob T., et al.
  Pubblicazione: (2017)
• Novel mutation-deletion in the PHOX2B gene of the patient diagnosed with Neuroblastoma, Hirschsprung’s Disease, and Congenital Central Hypoventilation Syndrome (NB-HSCR-CCHS) Cluster
  di: Szymońska, Izabela, et al.
  Pubblicazione: (2015)
• Anesthetic management of a child with congenital central hypoventilation syndrome (CCHS, Ondine's curse) for dental treatment.
  di: Ishibashi, Hajime, et al.
  Pubblicazione: (2004)
• Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease
  di: Paglietti, Maria Giovanna, et al.
  Pubblicazione: (2019)