Associated Papers
Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis.
Ditmer M et al.
International Journal of Environmental Research and Public Health, 2021
NH2-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo.
Chang DF et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2021
Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation.
Schirwani S et al.
Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2017
Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.
Weese-Mayer DE et al.
Pediatric Research, 2017
Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.
Magalhães J et al.
Sleep & Breathing = Schlaf & Atmung, 2015
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