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

Congenital central hypoventilation syndrome and carbon dioxide sensitivity.

European journal of pediatrics - 1 Dec 2014

Rossor Thomas, Soe Aung, Bhat Ravindra, Greenough Anne

Abstract excerpt

UNLABELLED: Congenital central hypoventilation syndrome (CCHS) is characterised by hypoventilation most marked during sleep and is often associated with abnormalities of the autonomic nervous system. We report an infant with severe CCHS and Hirschsprung disease in whom, while awaiting genotyping, the diagnosis was facilitated by the results of a carbon dioxide (CO2) sensitivity study in the neonatal period and...

Read the complete abstract on PubMed

Topics

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

Share to Carbon Dioxide
Share to DNA
Share to Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypoventilation

Share to Infant, Newborn

Share to Nerve Tissue Proteins

Share to Sleep Apnea, Central

Share to Transcription Factors

Source

Identifiers

PMID: 25319843
DOI: 10.1007/s00431-014-2432-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Congenital central hypoventilation syndrome and carbon dioxide sensitivity.PMID 25319843Read ↗

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

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

Congenital central hypoventilation syndrome and the PHOX2B gene mutation.Semantic proximity Read ↗

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

Congenital central hypoventilation syndrome and ventilatory responses during cardiopulmonary exercise testing.Semantic proximity Read ↗

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

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

Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management.Semantic proximity Read ↗

[Congenital Central Hypoventilation Syndrome: neonatal diagnosis and management].Semantic proximity Read ↗

Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome.Semantic proximity Read ↗

Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.Semantic proximity Read ↗

Later Onset Congenital Central Hypoventilation Syndrome.Semantic proximity Read ↗

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