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This book offers a comprehensive overview of alpha-1 antitrypsin deficiency, an inherited condition that leads to lung disease in adults and liver disease in adults and children and is associated with chronic obstructive lung disease in adults. While it is a rare condition, the mechanisms underlying the clinical manifestations of this deficiency have been largely clarified. Treatment, however, is available only for the lung disease that arises from the condition, thus necessitating continued research into new and alternative therapeutic solutions. The book discusses the biology of alpha-1 antitrypsin, protein misfolding and polymerization, and diagnosis and treatment of alpha-1 antitrypsin deficiency and its associated diseases. It concludes with a discussion of rare disorders linked to alpha-1 antitrypsin deficiency and the role of healthcare organizations in the treatment of these diseases. Written for pulmonary clinicians and scientists, Alpha-1 Antitrypsin: Role in Health and Disease is a valuable resource that sheds light on this rare disease.
Alpha-1-Antitrypsin and the Serpins Carrell, Robin Pages 1-15 Alpha-1 Antitrypsin: The Protein Lussier, Bethany (et al.) Pages 17-30 Misfolding and Polymerisation of Alpha Gooptu, Bibek (et al.) Pages 31-52 Managing the Adaptive Proteostatic Landscape: Restoring Resilience in Alpha-1 Antitrypsin Deficiency Wang, Chao (et al.) Pages 53-83 United States Targeted Detection Program for Alpha-1 Antitrypsin Deficiency Tonelli, Adriano R. (et al.) Pages 85-98 Lung Disease of Alpha-1 Antitrypsin Deficiency Sandhaus, Robert A. Pages 99-110 Liver Disease in a1-Antitrypsin Deficiency Mukherjee, Amitava (et al.) Pages 111-140 Alpha-1 Antitrypsin as a Therapeutic Agent for Conditions not Associated with Alpha-1 Antitrypsin Deficiency Wanner, Adam Pages 141-155 The Alpha-1 Constellation of Voluntary Health Organizations as a Paradigm for Confronting Rare Diseases Walsh, John W.