Results 191 to 200 of about 24,735 (239)

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

Advancing the understanding and treatment of lung pathologies associated with alpha 1 antitrypsin deficiency. [PDF]

Ther Adv Respir Dis
Turner AM, Ficker JH, Vianello A, Clarenbach CF, Janciauskiene S, Chorostowska-Wynimko J, Stolk J, McElvaney NG.   +7 more
europepmc   +1 more source

Alpha-1 antitrypsin deficiency-associated liver disease: From understudied disorder to the poster child of genetic medicine. [PDF]

Hepatol Commun
Fromme M, Klebingat F, Ellis P, Strnad P.   +3 more
europepmc   +1 more source

Progression and Augmentation Therapy in PiSZ and PiZZ Alpha-1 Antitrypsin Deficiency: A Longitudinal Functional and Densitometric Study. [PDF]

Biomolecules
Esmaili S, Rodríguez Hermosa JL, Vargas Centanaro G, Álvarez-Sala JL, Esmaili I, Calle Rubio M.   +5 more
europepmc   +1 more source

Effect of Alpha-1 Antitrypsin Deficiency on Zinc Homeostasis Gene Regulation and Interaction with Endoplasmic Reticulum Stress Response-Associated Genes. [PDF]

Nutrients
Liuzzi JP, Gonzales S, Barbieri MA, Vidal R, Yoo C.   +4 more
europepmc   +1 more source

Alpha-1-antitrypsin deficiency

, 2017
openaire   +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