Results 121 to 130 of about 26,458 (238)

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

Lung transplant outcomes for recipients with alpha-1 antitrypsin deficiency, by use of alpha-1 antitrypsin augmentation therapy

JHLT Open
Background: For patients with alpha-1 antitrypsin (AAT) deficiency, AAT augmentation therapy can be an important part of care. However, for those who require a lung transplant (LT), there is currently only limited information to guide the use of AAT ...
Atharv V. Oak, MEng, Jessica M. Ruck, MD, PhD, Alfred J. Casillan, MD, PhD, Armaan F. Akbar, BS, Ramon A. Riojas, MD, PhD, Pali D. Shah, MD, Jinny S. Ha, MD, MHS, Sara Strout, PharmD, Allan B. Massie, PhD, Dorry L. Segev, MD, PhD, Christian A. Merlo, MD, MPH, Errol L. Bush, MD   +11 more
doaj   +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  

Alpha 1-Antitrypsin-Labor und Alpha 1-Antitrypsin-Register [PDF]

Pneumologie, 2004
R. Bals, C. Vogelmeier
openaire   +1 more source

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  

Alpha-1 antitrypsin and serum albumin levels in tear fluid of healthy subjects and in persons with conjunctival diseases

Indian Journal of Ophthalmology, 1988
Alpha-1 antitrypsin and serum albumin levels were measured in the tear fluids in 81 healthy subjects and 142 patients with conjunctival diseases. The levels of the two proteins were independent of age and sex.
Sen D, Sarin G, Mathur M
doaj  

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
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