Results 81 to 90 of about 26,843 (195)

Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update

, 2017
Ignacio Blanco,1 Patricia Bueno,2 Isidro Diego,3 Sergio Pérez-Holanda,4 Francisco Casas-Maldonado,5 Cristina Esquinas,6 Marc Miravitlles6,7 1Alpha1-Antitrypsin Deficiency Spanish Registry (REDAAT), Fundación Respira, Spanish Society of ...
Esquinas C, Diego I, Bueno P, Miravitlles M, Casas-Maldonado F, Pérez-Holanda S, Blanco I   +6 more
core  

Alpha-1 Antitrypsin Deficiency Screening Using Serum Protein Electrophoresis [PDF]

Background: Alpha-1 antitrypsin is encoded by the polymorphic SERPINA1 gene, with pathogenic variants causing alpha-1 antitrypsin deficiency.
García-Zafra, Laura, García-Gutiérrez, Almudena, del Castillo-Díez, Enrique, Perales-Afán, Juan José, Torralba-Cabeza, Miguel Ángel, Menao, Sebastián   +5 more
core   +1 more source

When ‘Liver Enzymes’ Are Not Hepatic: Late‐Onset Pompe Disease

Medical Journal of Australia, Volume 224, Issue 6, June 2026.
ABSTRACT Elevated liver function tests are commonly attributed to hepatic disease but may reflect extrahepatic pathology. We describe the case of an 18‐year‐old athletic woman with a 2‐year history of elevated aspartate aminotransferase (AST), alanine aminotransferase (ALT) and creatine kinase (CK) levels, initially investigated extensively for hepatic
Shauna Madigan, Georgina England, Wayne Rankin   +2 more
wiley   +1 more source

Vascular Pathology in Alpha 1 Antitrypsin Deficient Chronic Obstructive Pulmonary Disease and Emphysema Patients: Case Reports

Matthew Gordon,1,* Andrew J Gangemi,1,* Eric L Sandwith,2,* Maruti Kumaran,3,* Friedrich Kueppers1,* 1Department of Thoracic Medicine and Surgery, Lewis Katz School of Medicine at Temple University, Philadelphia, PA, USA; 2HCA Florida
Gordon M, Gangemi AJ, Sandwith EL, Kumaran M, Kueppers F   +4 more
core  

Alpha-1-Antitrypsin-Mangel

, 2009
ZusammenfassungDer Alpha-1-Antitrypsin-Mangel ist eine auto-somal-kodominant vererbbare Krankheit mit einer Prävalenz von 1:2000–1:5000. Typische klinische Merkmale sind die frühzeitige Entwicklung einer chronisch obstruktiven Lungenerkrankung mit ...
M. Dahlheim, N. Schwerk, M. Bredt
core   +1 more source

Anxiety and depression in patients with alpha-1 antitrypsin deficiency: current insights and impact on quality of life

, 2019
Tatsiana Beiko, Charlie StrangeDivision of Pulmonary and Critical Care Medicine, Medical University of South Carolina, Charleston, SC, USAAbstract: Chronic physical illness is associated with significant vulnerability for emotional disorders.
Beiko T, Strange C
core  

Exploration of Mutations of Alpha-1-Antitrypsin

, 2018
Alpha-1-Antitrypsin is a protein that functions as a protease inhibitor specifically for neutrophil elastase, an enzyme which breaks down elastin in the lungs.
Sanders, Robby, Edwards, Shelley
core  

Is It Time Alpha-1 Antitrypsin Deficiency Had a Specific Patient Reported Outcome Measure? A Review

Joshua De Soyza, Hung-Yeh Chien, Adeola Ayodotun Onasanya, Alice M Turner Institute of Applied Health Sciences, University of Birmingham, Birmingham, UKCorrespondence: Joshua De Soyza, Email j.desoyza@bham.ac.ukAbstract: Alpha-1 antitrypsin deficiency ...
Chien HY, Onasanya AA, De Soyza J, Turner AM   +3 more
core  

Improving adherence to alpha-1 antitrypsin deficiency screening guidelines using the pulmonary function laboratory

, 2017
Landy V Luna Diaz,1 Isabella Iupe,1 Bruno Zavala,1 Kira C Balestrini,1 Andrea Guerrero,1 Gregory Holt,1,2 Rafael Calderon-Candelario,1,2 Mehdi Mirsaeidi,1,2 Michael Campos1,21Miami Veterans Administration Medical Center, Miami, FL, 2Division of Pulmonary,
Luna Diaz LV, Calderon-Candelario R, Zavala B, Guerrero A, Balestrini KC, Campos M, Iupe I, Mirsaeidi M, Holt G   +8 more
core  

Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency in an Elderly Patient. [PDF]

Diagnostics (Basel)
Ragnoli B, Pochetti P, Veselagu X, Malerba M.   +3 more
europepmc   +1 more source