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Article

Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease.

Arquivos de gastroenterologia - 1 Jan 2000

De Tommaso A M, Rossi C L, Escanhoela C A, Serra H G, Bertuzzo C S, Hessel G

Abstract excerpt

BACKGROUND: Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic hepatitis or cirrhosis. A precise diagnosis of Alpha-1-antitrypsin deficiency may be obtained by biochemical or molecular analysis. OBJECTIVE: The purpose of this...

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PMID: 11582965
DOI: 10.1590/s0004-28032001000100012

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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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