Results 181 to 190 of about 32,709 (226)

Alpha 1 antitrypsin deficiency

, 2020
openaire   +1 more source

Can Quality of Life Tests Be Useful in Patients Affected by Alpha-1 Antitrypsin Deficiency? [PDF]

J Clin Med
Hernández-Pérez JM, Khadour-Khadour H, Romero-Romero G, García-Bello MÁ.   +3 more
europepmc   +1 more source

Clinical implications of the SERPINA1 variant, M_Palermo, and alpha-1 antitrypsin deficiency in Türkiye. [PDF]

BMC Pulm Med
Karadoğan D, Dreger B, Osaba L, Ahmetoğlu E, Özyurt S, Yılmaz Kara B, Hürsoy N, Telatar TG, Şahin Ü.   +8 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

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

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

Alpha-1-antitrypsin deficiency

, 2017
openaire   +1 more source

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Alpha-1 Antitrypsin Deficiency

Methods in molecular biology, 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
semanticscholar   +4 more sources

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