Introduction Altering the human genetic code has been explored since the early 1990s as a
definitive answer for the treatment of monogenic and acquired diseases which do not …

Abstract Alpha-1 antitrypsin (AAT) deficiency is a common single-gene disorder among
Northern Europeans and North Americans. The carrier frequency for the common missense …

This review seeks to give an overview of alpha-1 antitrypsin deficiency, including the
different disease phenotypes that it encompasses. We then describe the different therapeutic …

Intravenous infusion of alpha-1 antitrypsin (AAT) was approved by the United States Food
and Drug Administration (FDA) to treat emphysema associated with AAT deficiency (AATD) …

Alpha-1 antitrypsin (A1AT) is a 52 kDa serine protease inhibitor that is synthesized in and
secreted from the liver. Although it is present in all tissues in the body the present consensus …

Alpha-1 antitrypsin (AAT) is a protease inhibitor belonging to the serpin family. A number of
identified mutations in the SERPINA1 gene encoding this protein result in alpha-1 antitrypsin …

Abstract Alpha-1 antitrypsin Deficiency (AATD) has been an attractive target for the
development of gene therapy because it is a common single gene disorder, for which there …

Introduction: Alpha-1 antitrypsin deficiency (AATD) is a relatively common, but under-
recognized condition which manifests commonly with liver cirrhosis and emphysema …

Introduction: As a common monogenic disease, α-1 antitrypsin (AAT) deficiency has
undergone thorough investigation for the development of gene therapy. The most common …

Providing a broad overview of basic and clinical aspects of alpha 1-antitrypsin (a 1AT)
deficiency, this up-to-date reference discusses the complex pathobiological processes …