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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[Alpha-1 antitrypsin deficiency. Two case reports]
1Interna do Complementar de Medicina Interna.
Revista Portuguesa De Pneumologia
|March 26, 2008
Abstract:
The alpha-1 antitrypsin deficiency is an hereditary autosomic codominant disease. The phenotype Pi ZZ is associated more frequently with pulmonary disease and is responsible for the presence of emphysema early in life, particularly in smokers. The author's present two cases which diagnosis were performed later in life and in which other factors could be also responsible for clinical manifestations.
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