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Article

Alpha-1-antitrypsin deficiency: diagnosis, pathophysiology, and management.

Current gastroenterology reports - 1 Feb 2006

Teckman Jeffrey H, Lindblad Douglas

Abstract excerpt

Alpha-1-antitrypsin deficiency is a relatively common but under-recognized genetic disease in which individuals homozygous for the mutant Z disease-associated allele are at risk for the development of liver disease and emphysema. The protein product of the mutant Z gene is synthesized in hepatocytes but accumulates intracellularly rather than being appropriately secreted. The downstream effects of the...

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PMID: 16510030
DOI: 10.1007/s11894-006-0059-8

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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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