Article
Diagnosis of alpha-1 antitrypsin deficiency: modalities, indications and diagnosis strategy.
Revue des maladies respiratoires - 1 Oct 2014
Balduyck M, Odou M-F, Zerimech F, Porchet N, Lafitte J-J, Maitre B
Abstract excerpt
Alpha-1 antitrypsin (α1-AT) deficiency is an autosomal recessive genetic disorder, which predisposes affected patients to development of pulmonary emphysema or liver cirrhosis. Despite the guidelines from the American Thoracic Society and the European Respiratory Society about α1-AT deficiency screening, it remains significantly under recognized. So, it seems necessary to propose an efficient and suitable...
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