Alpha-1-antitrypsin Deficiency: Biology, Diagnosis, Clinical Significance, and Emerging Therapies is the authoritative reference on AATD, providing standards for diagnosis, monitoring, treatment and appropriate avenues of research. The book covers the disease from basic biology and epidemiology, to clinical impact, and includes the understanding of the natural history of the disease and the significant advances that have been made in the last 20 years, including the three-dimensional structure of the molecule, its broad biological activity and improved therapeutic options, including replacement therapy and gene therapy. The editors have recruited international experts in the field to contribute evidence-based chapters and insights on future developments in the understanding of this disease. - Provides documentation of the variations in clinical presentation and pathology in a single reference - Presents new insights by pulling together the advances in the understanding of the structure and function of alpha1-antitrypsin deficiency with the genetic variants that cause the disease - Allows for easy reference for the diagnosis of AATD to lead to better therapeutics

BEST BOOK AWARD 2019 FINALIST - HEALTH: GENERAL (AMERICAN BOOK FEST) A knowledgeable handbook with a patient's perspective for those afflicted with the incurable disease known as Alpha-1 Antitrypsin deficiency (A1AD). Alpha-1 Antitrypsin deficiency (A1AD) is a rare genetic, incurable disease which causes the liver to not produce enough of a certain protein that protects and keeps the lungs functional. 100,000 people in the United States have A1AD and 19 million more are carriers for the disease. Since it's so rare, the information available about A1AD has been lacking especially for those suffering unknowingly with the disease. Living with Alpha-1 Antitrypsin Deficiency offers the most up-to-date and comprehensive information on this illness and includes first-hand experience from someone managing the disease. Living with Alpha-1 Antitrypsin Deficiency also includes expert advice from doctors and researchers tackling the disease, with tips on recognizing symptoms and getting the most effective help possible.

Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.

This volume provides protocols that expand on the latest alpha-1-antitrypsin (AAT) research. The chapters in this book are divided in to three sections: Part I is dedicated to patient-oriented research; part II discusses animal models; and Part III focuses on in vitro studies. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and authoritative, Alpha-1 Antitrypsin Deficiency: Methods and Protocols is a valuable resource for researchers, students, and clinican-scientists interested in AAT deficiency, as well as anyone working in the fields of pulmonology and hepatology.

Packed with Board-focused hints, case studies and an onlineBoard-standard MCQ test offering CME credits, this fantastic bookcovers every gastroenterology disease and symptom you’relikely to encounter and is the perfect tool to prepare for Boardexams and certification.