Results 101 to 110 of about 246,357 (188)

Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review

, 2017
Ross G Edgar,1,2 Mitesh Patel,3 Susan Bayliss,4 Diana Crossley,2,5 Elizabeth Sapey,2,5 Alice M Turner4,6 1Therapy Services, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK; 2Institute of Inflammation and Ageing, University of ...
Edgar RG, Crossley D, Bayliss S, Patel M, Sapey E, Turner AM   +5 more
core  

Characterization of Novel Alpha-1-Antitrypsin Coding Variants in a Mammalian Cellular Model

Advances in genetic screening technologies have considerably accelerated the discovery of rare alpha-1-antitrypsin (AAT) variants. Expression in cellular models is an effective approach to evaluate the pathogenic potential of these new AAT variants ...
Fra, Annamaria, Ben Khlifa, Emna, Denardo, Andrea, Bignotti, Mattia   +3 more
core   +1 more source

Alpha-1 antitrypsin Pi*SZ genotype: estimated prevalence and number of SZ subjects worldwide

, 2017
Ignacio Blanco,1 Patricia Bueno,2 Isidro Diego,3 Sergio Pérez-Holanda,4 Beatriz Lara,5 Francisco Casas-Maldonado,6 Cristina Esquinas,7 Marc Miravitlles7,8 1Alpha1-Antitrypsin Deficiency Spanish Registry (REDAAT), Lung Foundation Breathe, Spanish ...
Esquinas C, Diego I, Bueno P, Miravitlles M, Lara B, Casas-Maldonado F, Pérez-Holanda S, Blanco I   +7 more
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Alpha-1 antitrypsin deficiency in patients with chronic hepatitis

, 2012
Background/aims: Alpha-1 antitrypsin deficiency causes accumulation of mutant alpha-1 antitrypsin molecules in hepatocytes, and is attributed to severe liver injury even in heterozygous state.
Halis SIMSEK, Asli PINAR, Pinar, ASLI, Tatar, G, Gokhan GEDIKOGLU, Özcebe, O, Hasçelık, G, Gulsen HASCELIK, Gonca TATAR, Alp, ALPASLAN, Yahya BUYUKASIK, Altinbaş, A, Gedıkoğlu, G, Akif ALTINBAS, Osman OZCEBE, Yasemin H. BALABAN, Balaban, YH, Şımşek, H, Alparslan ALP, Büyükaşik, Y   +19 more
core   +1 more source

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
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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

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

Alpha-1 Antitrypsin Role in Health and Disease

, 2016
This book offers a comprehensive overview of alpha-1 antitrypsin deficiency, an inherited condition that leads to lung disease in adults and liver disease in adults and children.
Sandhaus, Robert A, Wanner, Adam
core   +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
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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