Results 191 to 200 of about 32,709 (226)

Alpha-1 antitrypsin deficiency: a re-surfacing adult liver disorder.

Journal of Hepatology, 2021
Alpha-1 antitrypsin deficiency (AATD) arises from mutations in the SERPINA1 gene encoding alpha-1 antitrypsin (AAT) that lead to AAT retention in the endoplasmic reticulum of hepatocytes, causing proteotoxic liver injury and loss-of-function lung disease.
M. Fromme, C. Schneider, C. Trautwein, N. Brunetti‐Pierri, P. Strnad   +4 more
semanticscholar   +1 more source

Alpha-1 Antitrypsin Deficiency

Journal of Insurance Medicine, 2015
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
SK Kabra, Rakesh Lodha, Kana Jat
  +5 more sources

Cancer risk in severe alpha-1-antitrypsin deficiency

European Respiratory Journal, 2022
Background Severe alpha-1-antitrypsin deficiency (AATD), phenotype PiZZ, is a risk factor for pulmonary emphysema and liver disease, but its effect on cancer risk is unknown.
Adriana-Maria Hiller, M. Ekström, E. Piitulainen, A. Lindberg, E. Rönmark, H. Tanash   +5 more
semanticscholar   +1 more source

Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort.

Journal of Hepatology, 2018
BACKGROUND & AIMS Alpha-1 antitrypsin deficiency (AATD) is an uncommonly recognized cause of liver disease in adults, with descriptions of its natural history limited to case series and patient-reported data from disease registries.
V. Clark, George Marek, Chen Liu, Amy Collinsworth, Jonathan Shuster, T. Kurtz, Joanna L Nolte, M. Brantly   +7 more
semanticscholar   +1 more source

Alpha-1-Antitrypsin Deficiency Panniculitis

Dermatologic Clinics, 2008
Alpha-1-antitrypsin deficiency is a congenital error of metabolism linked to pulmonary (emphysema) and liver (cirrhosis) disease. Since 1972, panniculitis has been associated with this deficiency, initially related to Weber-Christian syndrome and finally as a differentiated entity.
Ricardo, Valverde, Belén, Rosales, Francisco Javier, Ortiz-de Frutos, José Luis, Rodríguez-Peralto, Pablo L, Ortiz-Romero   +4 more
openaire   +2 more sources

Alpha-1-antitrypsin augmentation therapy for alpha-1-antitrypsin deficiency

The American Journal of Medicine, 1988
Alpha-1-antitrypsin (A1AT) deficiency is a genetic disorder characterized by low serum levels of A1AT and a high risk for the development of emphysema. A1AT is the principal inhibitor of neutrophil elastase, such that a deficiency of A1AT results in insufficient anti-elastase protection in the lower respiratory tract, thus allowing neutrophil elastase ...
R C, Hubbard, R G, Crystal
openaire   +2 more sources

Alpha-1 Antitrypsin Deficiency Associated COPD.

Clinics in Chest Medicine, 2020
Alpha-1 antitrypsin deficiency (AATD) was the first genetic risk factor for chronic obstructive pulmonary disease (COPD) described. In the more than 50 years since its description, the disease continues to provide insights into more common forms of COPD.
C. Strange
semanticscholar   +1 more source

[Alpha 1-antitrypsin deficiency].

Revue des maladies respiratoires, 2016
Pulmonary emphysema and liver disease are the clinical expressions of alpha 1-antitrypsin deficiency, an autosomal recessive genetic disease.Alpha 1-antitrypsin deficiency is usually associated with the homozygous Z variant of the SERPINA1 gene.
openaire   +2 more sources

Detecting Alpha-1 Antitrypsin Deficiency

Annals of the American Thoracic Society, 2016
Alpha-1 antitrypsin deficiency is a widely underrecognized condition, with evidence of persisting long diagnostic delays and patients' frequent need to see multiple physicians before initial diagnosis. Reasons for underrecognition include inadequate understanding of alpha-1 antitrypsin deficiency by physicians and allied health care providers; failure ...
openaire   +2 more sources

Deficiency of Alpha-1 Antitrypsin

Annals of Internal Medicine, 1973
Excerpt It is almost a decade since genetic deficiency of alpha-1 antitrypsin was discovered in Malmo, Sweden, by Laurell and Eriksson (1) and shown to be associated with a tendency to early-onset ...
openaire   +2 more sources