Associated Papers
Recognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation Syndrome.
Malhotra N et al.
Hormone Research in Paediatrics, 2024
Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 2023
Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.
Mei M et al.
Translational Pediatrics, 2021
Congenital hyperinsulinism associated with Hirschsprung's disease-a report of an extremely rare case.
Shono T et al.
Surgical Case Reports, 2020
Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T et al.
Clinical Genetics, 2020
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
Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
Heide S et al.
Pediatric Blood & Cancer, 2016
[Congenital central hypoventilation syndrome, report of three cases].
Wang Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
Weese-Mayer DE et al.
Revue Des Maladies Respiratoires, 2013
An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
Weese-Mayer DE et al.
American Journal of Respiratory and Critical Care Medicine, 2010
Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
Weese-Mayer DE et al.
Pediatric Pulmonology, 2009
Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.
Hennewig U et al.
Journal of Human Genetics, 2008