Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands.

European journal of pediatrics - 1 Feb 2024

Evers-Bikker E E, de Weerd W, Wijkstra P J, Corel L, Verweij L P, Vosse B A H

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is a rare condition characterized by central hypoventilation, leading to the majority of patients being dependent on ventilatory support during sleep. This condition is often accompanied by various associated symptoms, due to a PHOX2B gene variant involved in neuronal crest cell migration. This study is the first to review the characteristics and outcomes in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypoventilation

Share to Infant, Newborn

Share to Netherlands

Share to Respiration, Artificial

Share to Sleep Apnea, Central

Share to Transcription Factors

Source

Identifiers

PMID: 38001308
DOI: 10.1007/s00431-023-05339-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands.PMID 38001308Read ↗

The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype.Semantic proximity Read ↗

Clinical practices and prognosis of Congenital Central Hypoventilation Syndrome : based on 20-year-records in KoreaSemantic proximity Read ↗

Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center.Semantic proximity Read ↗

Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder.Semantic proximity Read ↗

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Semantic proximity Read ↗

Extended clinical phenotype of late-onset congenital central hypoventilation syndrome in children with PHOX2B mutationsSemantic proximity Read ↗

Guidelines for diagnosis and management of congenital central hypoventilation syndrome.Semantic proximity Read ↗

Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations.Semantic proximity Read ↗

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.Semantic proximity Read ↗

Congenital central hypoventilation syndrome: diagnosis and management.Semantic proximity Read ↗

Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?Semantic proximity Read ↗

Congenital Central Hypoventilation Syndrome in Neonates: Report of Fourteen New Cases and A Review of the LiteratureSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.