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 …

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 …

Objectives: Identify the etiology and epidemiology of alpha 1 antitrypsin deficiency. Describe
the evaluation of alpha-1 antitrypsin deficiency. Outline the treatment and management …

Alpha-1-antitrypsin Deficiency: Biology, Diagnosis, Clinical Significance, and Emerging
Therapies is the authoritative reference on AATD, providing standards for diagnosis …

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 …

The classical form of α1-antitrypsin deficiency (ATD) is an autosomal co-dominant disorder
that affects~ 1 in 3000 live births and is an important genetic cause of lung and liver disease …

In the last 13 years, three gene therapy trials for the treatment of α-1 antitrypsin deficiency
have been conducted. The first trial delivered plasmid encoding the α-1 antitrypsin cDNA to …

The book was triggered by the expansion in the field of alpha-1 antitrypsin (AAT) research.
While by no means exhaustive, this book is meant to provide the essential protocols to …

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) …

Abstract Purpose of Review The aim of the study is to review the liver disease caused by
alpha-1 antitrypsin deficiency (A1ATD), including pathogenesis, epidemiology, diagnostic …