Management of rare diseases in respiratory medicine
SR Johnson - Clinical Medicine, 2007 - ncbi.nlm.nih.gov
Current key developments hepatitis, cirrhosis and hepatocellular carcinoma. 5 It has
become clear that this process also underlies the deficiency of other mutants of a1 …
become clear that this process also underlies the deficiency of other mutants of a1 …
[PDF][PDF] Overview of alpha-1 antitrypsin deficiency-mediated liver disease
E Karatas, S Di-Tommaso, N Dugot-Senant… - European Medical …, 2019 - hal.science
Alpha-1 antitrypsin deficiency (AATD), described in 1963 by Laurell and Eriksson, 1 is a rare
inherited disorder with a prevalence of approximately 1 in 2,000–5,000 births in North …
inherited disorder with a prevalence of approximately 1 in 2,000–5,000 births in North …
α1-Antitrypsin deficiency: best clinical practice
NA Kalsheker - Journal of clinical pathology, 2009 - jcp.bmj.com
α1-Antitrypsin (AAT), a 52 kDa plasma protein, is produced mainly in the liver. It is the most
abundant circulating ser ine p roteinase in hibitor (serpin). It has also previously been called …
abundant circulating ser ine p roteinase in hibitor (serpin). It has also previously been called …
[PDF][PDF] o1-Antitrypsin deficiency: best clinical practice
NA Kalsheker - blood - Citeseer
ABSTRACT o1-Antitrypsin (AAT), a 52 kDa plasma protein, is produced mainly in the liver. It
is the most abundant circulating serine proteinase inhibitor (serpin). It has also previously …
is the most abundant circulating serine proteinase inhibitor (serpin). It has also previously …
[HTML][HTML] Are clinical trials into emerging drugs for the treatment of alpha-1 antitrypsin deficiency providing promising results?
1. Background Alpha-1 Antitrypsin Deficiency (AATD) is a rare disease characterized by low
circulating levels of the serine protease inhibitor Alpha-1 Antitrypsin (AAT). Increased …
circulating levels of the serine protease inhibitor Alpha-1 Antitrypsin (AAT). Increased …
α1-antitrypsin deficiency
U Hatipoğlu, JK Stoller - Clinics in Chest Medicine, 2016 - chestmed.theclinics.com
In 1963, Carl-Bertil Laurell and Sten Eriksson 1 first described AATD based on their noting
the absence of the a1-protein band in serum protein electrophoreses from 5 patients. Three …
the absence of the a1-protein band in serum protein electrophoreses from 5 patients. Three …
GPs Meet Rare Lung Disorders Task Force factsheet: α-1 antitrypsin deficiency
B Balbi - 2014 - Eur Respiratory Soc
Definition α-1 antitrypsin deficiency (AATD) is a genetic disorder that manifests as
pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, or as …
pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, or as …
Circulating polymers in α1-antitrypsin deficiency
L Tan, JA Dickens, DL DeMeo… - European …, 2014 - Eur Respiratory Soc
Most individuals carry two wild-type M alleles of the SERPINA1 gene which encodes a1-
antitrypsin. 95% of severe deficiency of a1-antitrypsin is associated with the Z allele …
antitrypsin. 95% of severe deficiency of a1-antitrypsin is associated with the Z allele …
[PDF][PDF] Alpha1-antitrypsin deficiency: what's new after European Respiratory Society statement
F PaTrUccO, L Venezia, F Gavelli, R Pellicano… - Panminerva …, 2018 - researchgate.net
Alpha-1 antitrypsin deficiency (AATD) is a clinically under-recognized inherited disorder
affecting the lungs and the liver. The most common manifestations are pulmonary …
affecting the lungs and the liver. The most common manifestations are pulmonary …
α1-Antitrypsin deficiency
Abstract α1-Antitrypsin deficiency (A1ATD) is an inherited disorder caused by mutations in
SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes …
SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes …