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Article

Hereditary alpha-1-antitrypsin deficiency and its clinical consequences.

Orphanet journal of rare diseases - 19 Jun 2008

Fregonese Laura, Stolk Jan

Abstract excerpt

Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum. The prevalence in Western Europe and in the USA is estimated at approximately 1 in 2,500 and 1 : 5,000 newborns, and is highly dependent on the Scandinavian...

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Source

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Identifiers

PMID: 18565211
DOI: 10.1186/1750-1172-3-16
PMCID: PMC2441617

Genes

SERPINA1

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.

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