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
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
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
Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications [PDF]
Orphanet Journal of Rare DiseasesBackground Individuals heterozygous for alpha-1 antitrypsin deficiency (AATD) have one copy of the normal “M” allele and one copy of an abnormal allele (“Z”, “S”, or another variant) in the SERPINA1 gene.
Craig P. Hersh +18 more
doaj +2 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
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
AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury
, 2022 Hepatology, EarlyView.
Robert J. Fontana +6 more
wiley +1 more source
Alpha-1-antitrypsin: a novel human high temperature requirement protease A1 (HTRA1) substrate in human placental tissue. [PDF]
PLoS ONE, 2014 The human serine protease high temperature requirement A1 (HTRA1) is highly expressed in the placental tissue, especially in the last trimester of gestation. This suggests that HTRA1 is involved in placental formation and function.
Violette Frochaux +4 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