Results 21 to 30 of about 30,835,114 (202)
Alpha-1 Antitrypsin Deficiency Liver Disease [PDF]
Clinics in Liver Disease, 2021 Liver disease in homozygous ZZ alpha-1 antitrypsin (AAT) deficiency occurs due to the accumulation of large quantities of AAT mutant Z protein polymers in the liver. The mutant Z protein folds improperly during biogenesis and is retained within the hepatocytes rather than appropriately secreted.
Dhiren, Patel +2 more
openaire +3 more sources
Respiratory Research, 2023 Background Alpha-1-antitrypsin (AAT) deficiency (AATD) is a genetic disorder that can manifest as lung disease. A delay between onset of symptoms and diagnosis of AATD is common and associated with worse clinical status and more advanced disease stage ...
Tobias Meischl +12 more
doaj +1 more source
Alpha-1 Antitrypsin Deficiency: Principles of Care
Acta Médica Portuguesa, 2020 Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and ...
Joana F. Rodrigues +9 more
doaj +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
Orphanet Journal of Rare Diseases, 2021 Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers. The aim of this study was to determine if there was an increase in alpha-1 antitrypsin deficient alleles ...
Cormac McCarthy +6 more
doaj +1 more source
Alpha-1 Antitrypsin Deficiency: Home Therapy
Frontiers in Pharmacology, 2021 While available in only a few countries, home therapy is a possible strategy for the treatment of alpha-1 antitrypsin deficiency. We want to describe our experience in the management of human alpha-1 antitrypsin using home care intravenous augmentation ...
Anna Annunziata +5 more
doaj +1 more source
Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD
Multidisciplinary Respiratory Medicine, 2017 Background Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD in Kazakh patients with COPD using dried blood spot specimens ...
Ardak Zhumagaliyeva +12 more
doaj +1 more source
Three new Alpha1-Antitrypsin deficiency variants help to define a C-Terminal region regulating conformational change and polymerization [PDF]
, 2012 Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT plasma levels, predisposing adults to pulmonary emphysema.
Fra Anna M. +76 more
core +2 more sources
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
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