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Alpha-1 antitrypsin deficiency: outstanding questions and future directions

11 Jul 2018

Abstract excerpt

BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. METHODS: In this review, we summarise and update current knowledge on alpha-1 antitrypsin deficiency in order to identify and...

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PMID: 29996870
DOI: 10.1186/s13023-018-0856-9

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