Results 111 to 120 of about 18,796 (222)

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
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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

The Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosis

Journal of Education, Health and Sport
Introduction: Alpha-1 antitrypsin (AAT) is a glycoprotein produced by liver, belonging to the serine protease inhibitor family. Alpha-1 antitrypsin deficiency (AATD) is very common autosomal recessive genetic disease caused by point mutation in ...
Dawid Kościołek, Michał Urbaś, Martyna Kępczyk, Aleksandra Kościołek, Kaja Surowiecka, Jakub Misiak, Miłosz Ojdana, Konrad Szalbot, Mikołaj Tokarski, Natalia Marczak   +9 more
doaj   +1 more source

Therapeutics: Gene Therapy for Alpha-1 Antitrypsin Deficiency

, 2017
This review seeks to give an overview of alpha-1 antitrypsin deficiency, including the different disease phenotypes that it encompasses. We then describe the different therapeutic endeavors that have been undertaken to address these different phenotypes.
Flotte, Terence R., Gruntman, Alisha M
core   +1 more source

Liver Disease in Alpha-1-Antitrypsin Deficiency

, 2019
Alpha-1-antitrypsin deficiency is a hereditary disorder characterized by a deficiency of the primarily liver-produced enzyme alpha-1-antitrypsin. In children, it remains the most common genetic cause of liver disease.
Alice Turner, Awan, Zoya, Turner, Alice, Zoya Awan   +3 more
core   +1 more source

Liver:: Alpha-1-Antitrypsin Deficiency.

, 1900
Alpha-1-antitrypsin deficiency. COMMENT: Bile stasis and a micronodular cirrhosis are seen in this example of enzyme deficiency disease.
MUSC Department of Pathology and Laboratory Medicine
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The delay effect of sulfur mustard gas on phenotype and plasma alpha-1-antitrypsin activity in war victim patients

مجله دانشگاه علوم پزشکی گرگان, 2010
Background and Objective: Alpha-1 antitrypsin deficiency is recognized as a etiological base in lung injury. Therefore this study was performed to determine plasma level of alpha-1 antitrypsin in war victims exposed to sulfur mustard gas.
Majid Shohrati (PhD), Navvab Shamspour (MSc), Afshin Mohsenifar (PhD), Mostafa Ghanei (MD)   +3 more
doaj  

Pulmonary artery aneurysm as a rare manifestation of Alpha-1 antitrypsin deficiency

Respiratory Medicine Case Reports
Alpha-1 antitrypsin is a relatively well-known genetic disease known to primarily affect the lungs and liver. Extrapulmonary manifestations of this disease have been reported, including vascular aneurysms.
Mark A. Colantonio, Sanjana Aggarwal, Himanshu Deshwal   +2 more
doaj   +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
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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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