Results 151 to 160 of about 12,033 (186)

Fazirsiran for the treatment of alpha-1 antitrypsin deficiency-associated liver disease findings from the SEQUOIA phase 2 trial. [PDF]

Ann Med Surg (Lond)
Liaquat T, Malik BT, Hashmi TH, Arain H, Ali MH, Haque MA.   +5 more
europepmc   +1 more source

Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency. [PDF]

Nat Genet
Brzozowska N, Wu LYD, Khodzhaeva V, Griffiths WJ, Duckworth A, Jung H, Coorens THH, Hooks Y, Chambers JE, Campbell PJ, Marciniak SJ, Hoare M.   +11 more
europepmc   +1 more source

Alpha 1 antitrypsin deficiency

, 2020
openaire   +1 more source

Clinical and Economic Outcomes in Patients With Alpha-1 Antitrypsin Deficiency in a US Medicare Advantage Population. [PDF]

J Health Econ Outcomes Res
Khandelwal N, Hinson J, Nguyen T, Daviano A, Xu Y, Suehs BT, Higgins S, Sanchirico M, Wells JM.   +8 more
europepmc   +1 more source

Signs of Hyperinflation and Ventilation Heterogeneity in Individuals With Severe Alpha-1-Antitrypsin Deficiency at the Age of 42. [PDF]

Int J Chron Obstruct Pulmon Dis
Schramm GR, Wollmer P, Piitulainen E, Zaigham S, Tanash H.   +4 more
europepmc   +1 more source

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Alpha‐1‐Antitrypsin Deficiency

Clinical Liver Disease, 2022
Content available: Author Audio Recording.
Anandini Suri, Dhiren Patel, Jeffery Teckman   +2 more
openaire   +4 more sources

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

Alpha-1 Antitrypsin Deficiency

2023
Alpha-1 antitrypsin (AAT) deficiency is a common monogenic disorder in which there is a strong founder effect of a single missense mutation in SERPINA1, the gene encoding this major circulating serum anti-protease that is normally expressed primarily in hepatocytes.
Alisha M, Gruntman, Wen, Xue, Terence R, Flotte   +2 more
openaire   +3 more sources

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