Results 11 to 20 of about 30,835,114 (202)
Alpha-1 antitrypsin deficiency [PDF]
Respiratory Medicine, 2010 To review the topic of alpha-1 antitrypsin (AAT) deficiency.Narrative literature review.Much work has been carried out on this condition with many questions being answered but still further questions remain.AAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly.
Tomás P. Carroll +2 more
exaly +12 more sources
International Journal of COPD, 2018 Kenneth R Chapman,1 Joanna Chorostowska-Wynimko,2 A Rembert Koczulla,3 Ilaria Ferrarotti,4 Noel G McElvaney5 1Department of Medicine, University of Toronto, Toronto, ON, Canada; 2Department of Genetics and Clinical Immunology, National Institute of ...
Andreas Rembert Koczulla +1 more
exaly +4 more sources
Alpha-1 antitrypsin deficiency associated with increased risk of venous thromboembolism: a nationwide cohort study in Denmark [PDF]
Research and Practice in Thrombosis and HaemostasisBackground: Mechanistic investigations suggest that alpha-1 antitrypsin may influence hemostatic processes; however, whether alpha-1 antitrypsin deficiency is associated with an elevated risk of venous thromboembolism is unclear.
Sine Voss David +5 more
doaj +2 more sources
ALPHA-1-ANTITRYPSIN DEFICIENCY IN CHILDREN [PDF]
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 +2 more sources
Alpha-1 antitrypsin deficiency [PDF]
Archives of Disease in Childhood, 2001 α-1 antitrypsin is synthesised in the liver and protects lung alveolar tissues from destruction by neutrophil elastase. α-1 antitrypsin deficiency is a common autosomal recessive condition (1:1600 to 1:1800) in which liver disease results from retention of abnormal polymerised α-1 antitrypsin in the endoplasmic reticulum of hepatocytes, and emphysema ...
Primhak, R.A., Tanner, M.S.
openaire +6 more sources
COVID-19 outcomes in individuals with severe alpha-1 antitrypsin deficiency in Sweden [PDF]
Scientific ReportsWe have previously found using questionnaire/interview data on COVID-19 outcomes, that most subjects with severe alpha-1-antitrypsin deficiency (AATD) exhibit mild COVID-19 infection and those who additionally have COPD are at increased risk of severe ...
Suneela Zaigham +2 more
doaj +2 more sources
Emphysema in an 11-month-old boy with alpha-1 antitrypsin deficiency. [PDF]
Pediatr InvestigPediatric development of emphysema in Alpha‐1 Antitrypsin Deficiency (A1ATD) has been rarely described. In this case report, we document an 11‐month boy with A1ATD phenotype PiZZ with basilar centrilobular emphysema, the earliest such documented case.
Yi I +3 more
europepmc +2 more sources
Exacerbations, health status and sibling pair comparisons in severe Alpha-1-Antitrypsin Deficiency [PDF]
, 2007 Alpha-1-Antitrypsin Deficiency (AATD) is a risk factor for the development of early-onset emphysema and airflow obstruction. The current work defines exacerbations, lung function and health status in these patients including sibling pairs.
Needham, Michelle
core +7 more sources
Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency
Acta Médica Portuguesa, 2022 Alpha 1-antitrypsin deficiency is an inherited autosomal codominant disorder, which predisposes patients to lung and/or liver disease. Even though it is considered rare, it is one of the most frequent genetic disorders worldwide, albeit remaining ...
Bebiana Conde +9 more
doaj +1 more source
Association of alpha-1 antitrypsin level and lung function in patients with chronic obstructive pulmonary disease [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2017 Introduction/Objective. Alpha-1 antitrypsin deficiency is a well established inherited risk factor for chronic obstructive pulmonary disease (COPD); however, alpha-1 antitrypsin level may result in different lung function reduction.
Serapinas Danielius +5 more
doaj +1 more source