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Article

ABCA3 mutation-induced congenital pulmonary surfactant deficiency: A case report.

Medicine - 29 Mar 2024

Lei Chunxia, Wan Chunhui, Liu Caixia

Abstract excerpt

INTRODUCTION: Congenital surfactant deficiency, often caused by mutations in genes involved in surfactant biosynthesis such as ABCA3, presents a significant challenge in neonatal care due to its severe respiratory manifestations. This study aims to analyze the clinical data of a newborn male diagnosed with pulmonary surfactant metabolism dysfunction type 3 resulting from ABCA3 gene mutations to provide insights...

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Share to ATP-Binding Cassette Transporters
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pulmonary Alveolar Proteinosis

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Share to Respiratory Distress Syndrome, Newborn

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Source

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Identifiers

PMID: 38552044
DOI: 10.1097/MD.0000000000037622
PMCID: PMC10977586

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.

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