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

Genetic testing in children with surfactant dysfunction.

Archives of disease in childhood - 1 Jul 2013

Turcu Simona, Ashton Emma, Jenkins Lucy, Gupta Atul, Mok Quen

Abstract excerpt

OBJECTIVES: To present the UK experience in genetic diagnoses of surfactant protein dysfunction disorders and develop a referral algorithm for neonates and children with persistent respiratory problems. MATERIALS AND METHODS: Between 2006 and 2011, 427 cases were referred for surfactant mutation analyses to the North East Thames Regional Molecular Genetics Laboratory at Great Ormond Street Hospital, London. The...

Read the complete abstract on PubMed

Topics

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

Share to ATP-Binding Cassette Transporters
Share to Genetic Testing
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to London

Share to Lung Diseases

Share to Pulmonary Surfactant-Associated Protein B

Share to Pulmonary Surfactant-Associated Protein C

Source

Identifiers

PMID: 23625987
DOI: 10.1136/archdischild-2012-303166

Genes

ABCA3
SFTPB
SFTPC

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic testing in children with surfactant dysfunction.PMID 23625987Read ↗

Genetic disorders of surfactant protein dysfunction: when to consider and how to investigate.Semantic proximity Read ↗

Genetic causes of surfactant protein abnormalitiesSemantic proximity Read ↗

Evaluation and management of inherited disorders of surfactant metabolism.Semantic proximity Read ↗

[Genetic disorders of surfactant].Semantic proximity Read ↗

Genetic Disorders of Surfactant DysfunctionSemantic proximity Read ↗

Genetic disorders of surfactant proteins.Semantic proximity Read ↗

Towards personalized therapies for genetic disorders of surfactant dysfunction.Semantic proximity Read ↗

Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.Semantic proximity Read ↗

ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system.Semantic proximity Read ↗

Surfactant dysfunction.Semantic proximity Read ↗

Genetic disorders of surfactant homeostasis.Semantic proximity Read ↗

Genetic disorders of surfactant homeostasis.Semantic proximity Read ↗

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