Results 31 to 40 of about 32,701 (226)
Alpha-1 antitrypsin deficiency: clarifying the role of the putative protective threshold
European Respiratory Journal, 2021 Alpha-1 antitrypsin deficiency (AATD) is the only readily identifiable monogenic cause of COPD. To date the only condition-specific treatment for AATD-associated COPD is weekly administration of intravenous plasma-purified human alpha-1 antitrypsin (IV ...
A. Franciosi +3 more
semanticscholar +1 more source
Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil
Jornal Brasileiro de Pneumologia, 2021 Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder caused by a mutation in the SERPINA1 gene, which encodes the protease inhibitor alpha-1 antitrypsin (AAT). Severe AATD predisposes individuals to COPD and liver disease.
José R Jardim +5 more
doaj +2 more sources
The spectrum of clinical sequelae associated with alpha-1 antitrypsin deficiency
Therapeutic Advances in Chronic Disease, 2021 Alpha-1 antitrypsin (AAT) deficiency (AATD) is an autosomal co-dominant condition that predisposes to the development of lung disease, primarily emphysema.
V. Tejwani, J. Stoller
semanticscholar +1 more source
AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury
, 2022 Hepatology, EarlyView.
Robert J. Fontana +6 more
wiley +1 more source
The Mechanism of Mitochondrial Injury in Alpha-1 Antitrypsin Deficiency Mediated Liver Disease
International Journal of Molecular Sciences, 2021 Alpha-1 antitrypsin deficiency (AATD) is caused by a single mutation in the SERPINA1 gene, which culminates in the accumulation of misfolded alpha-1 antitrypsin (ZAAT) within the endoplasmic reticulum (ER) of hepatocytes.
N. Khodayari +9 more
semanticscholar +1 more source
ALPHA-1-ANTITRYPSIN DEFICIENCY IN CHILDREN
Медицинский совет, 2017 Hereditary deficiency of the alpha-1-antitrypsin occupies a leading position among the causes of chronic nonspecific lung diseases with emphysema formation.
S. I. MELNIK +5 more
doaj +1 more source
The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes
European Respiratory Journal, 2020 Alpha-1 antitrypsin deficiency (AATD), mainly due to the PI*ZZ genotype in SERPINA1, is one of the most common inherited diseases. Since it is associated with a high disease burden and partially prevented by smoking cessation, identification of PI*ZZ ...
T. Nakanishi +7 more
semanticscholar +1 more source
Severe alpha‐1‐antitrypsin deficiency increases the risk of venous thromboembolism
Journal of Thrombosis and Haemostasis, 2021 Severe alpha‐1‐antitrypsin deficiency (AATD), phenotype PiZZ, is associated with increased risk of liver disease and chronic obstructive pulmonary disease (COPD), but the risk of venous thromboembolism (VTE) is unknown.
Nawfal Basil +6 more
semanticscholar +1 more source
alpha 1-antitrypsin deficiency.
Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace, 1998 Homozygous PIZZ alpha 1-antitrypsin deficiency, which has an incident of 1 in 1600 to 1 in 2000 live births, is the most common genetic cause of liver disease in children. It is also associated with chronic liver disease and hepatocellular carcinoma in adults. It is a well-known cause of pulmonary emphysema.
Paone G, Brantly M.
openaire +5 more sources
GE: Portuguese Journal of Gastroenterology, 2023 Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic diseases and is caused by mutations in the SERPINA1 gene. The homozygous Pi*Z variant is responsible for the majority of the classic severe form of alpha-1 antitrypsin deficiency ...
Nélia Abreu +3 more
doaj +1 more source