Results 11 to 20 of about 32,701 (226)

Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency

Acta Médica Portuguesa, 2022
Alpha 1-antitrypsin deficiency is an inherited autosomal codominant disorder, which predisposes patients to lung and/or liver disease. Even though it is considered rare, it is one of the most frequent genetic disorders worldwide, albeit remaining ...
Bebiana Conde, Filipa Costa, Joana Gomes, António Paulo Lopes, Maria Alexandra Mineiro, Orlando Rodrigues, Cristina Santos, Luísa Semedo, Maria Sucena, Catarina Guimarães   +9 more
doaj   +1 more source

Gene therapy for alpha-1 antitrypsin deficiency: an update

Expert Opinion on Biological Therapy, 2023
Introduction Altering the human genetic code has been explored since the early 1990s as a definitive answer for the treatment of monogenic and acquired diseases which do not respond to conventional therapies.
Debora Pires Ferreira, A. Gruntman, T. Flotte   +2 more
semanticscholar   +1 more source

Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry

Respiratory Research, 2022
Background Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO) international registry was founded with the objective of characterising ...
M. Miravitlles, A. Turner, M. Torres-Durán, H. Tanash, Carlota Rodríguez-García, J. López-Campos, J. Chlumsky, Catarina Guimarães, J. Rodríguez-Hermosa, A. Corsico, C. Martínez-González, J. M. Hernández-Pérez, A. Bustamante, D. Parr, F. Casas-Maldonado, A. Hećimović, W. Janssens, B. Lara, M. Barrecheguren, Cruz González, J. Stolk, C. Esquinas, Christian F. Clarenbach   +22 more
semanticscholar   +1 more source

Characteristics of individuals with alpha-1 antitrypsin deficiency from Northern and Southern European countries: EARCO international registry

European Respiratory Journal, 2023
The EARCO registry contains information on >1000 patients with AATD from 15 countries. The demographic characteristics and the disease characteristics are not significantly different in individuals from Northern or Southern European countries.
M. Miravitlles, A. Turner, M. Torres-Durán, H. Tanash, Carlota Rodríguez-García, J. López-Campos, J. Chlumsky, Catarina Guimarães, J. Rodríguez-Hermosa, A. Corsico, C. Martínez-González, J. M. Hernández-Pérez, A. Bustamante, D. Parr, F. Casas-Maldonado, A. Hećimović, W. Janssens, B. Lara, M. Barrecheguren, Cruz González, J. Stolk, C. Esquinas, Christian F. Clarenbach   +22 more
semanticscholar   +1 more source

Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews

European Respiratory Review, 2022
Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder characterised by reduced levels of circulating alpha-1 antitrypsin and an increased risk of lung and liver disease.
M. Miravitlles, M. Herepath, A. Priyendu, Sheetal Sharma, T. Vilchez, O. Vit, M. Haensel, Virginie Lepage, H. Gens, T. Greulich   +9 more
semanticscholar   +1 more source

Association of alpha-1 antitrypsin level and lung function in patients with chronic obstructive pulmonary disease [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2017
Introduction/Objective. Alpha-1 antitrypsin deficiency is a well established inherited risk factor for chronic obstructive pulmonary disease (COPD); however, alpha-1 antitrypsin level may result in different lung function reduction.
Serapinas Danielius, Nutautiene Ruta, Pukinskaite Ruta, Bartkeviciene Daiva, Barkauskiene Diana, Sakalauskas Raimundas   +5 more
doaj   +1 more source

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum

The Application of Clinical Genetics, 2021
Alpha-1-Antitrypsin deficiency (AATD), caused by SERPINA1 mutations, is one of the most prevalent Mendelian disorders among individuals of European descend.
S. Seixas, P. Marques
semanticscholar   +1 more source

Hepatobiliary phenotypes of adults with alpha-1 antitrypsin deficiency

Gut, 2021
Objective Alpha-1 antitrypsin deficiency (AATD) is a common, potentially lethal inborn disorder caused by mutations in alpha-1 antitrypsin (AAT).
M. Fromme, C. Schneider, V. Pereira, K. Hamesch, M. Pons, M. Reichert, F. Benini, P. Ellis, Katrine H Thorhauge, M. Mandorfer, B. Burbaum, V. Woditsch, J. Chorostowska-Wynimko, J. Verbeek, F. Nevens, J. Genescà, M. Miravitlles, Alexa Núñez, B. Schaefer, H. Zoller, S. Janciauskiene, N. Abreu, L. Jasmins, R. Gaspar, R. Liberal, G. Macedo, Ravi Mahadeva, C. Gomes, K. Schneider, M. Trauner, A. Krag, B. Gooptu, D. Thorburn, A. Marshall, J. Hurst, D. Lomas, F. Lammert, N. Gaisa, V. Clark, W. Griffiths, C. Trautwein, A. Turner, N. McElvaney, P. Strnad   +43 more
semanticscholar   +1 more source

Evaluation of Cytosine Base Editing and Adenine Base Editing as a Potential Treatment for Alpha-1 Antitrypsin Deficiency.

Molecular Therapy, 2022
Alpha-1 Antitrypsin Deficiency (AATD) is a rare autosomal codominant disease caused by mutations within the SERPINA1 gene. The most prevalent variant in patients is PiZ SERPINA1 containing a single G>A transition mutation.
M. Packer, Vivek K. Chowdhary, G. Lung, Lo-I Cheng, Yvonne Aratyn-Schaus, D. Leboeuf, Sarah Smith, Aalok Shah, Delai Chen, Marina Zieger, B. Cafferty, Bo-Wen Yan, G. Ciaramella, Francine M. Gregoire, C. Mueller   +14 more
semanticscholar   +1 more source

The prevalence of bronchiectasis in patients with alpha-1 antitrypsin deficiency: initial report of EARCO

Orphanet Journal of Rare Diseases, 2023
Background Although bronchiectasis has been recognised as a feature of some patients with Alpha1-Antitrypsin deficiency the prevalence and characteristics are not widely known.
R. Stockley, A. Pye, J. De Soyza, A. Turner, M. Miravitlles, María Hanan Carlota José Luis Jan Catarina Juan Luis Ang Torres-Duran Tanash Rodríguez-García López-Campos , M. Torres-Durán, H. Tanash, Carlota Rodríguez-García, J. López-Campos, J. Chlumsky, Catarina Guimarães, J. Rodríguez-Hermosa, A. Corsico, C. Martínez-González, J. M. Hernández-Pérez, A. Bustamante, D. Parr, F. Casas-Maldonado, A. Hećimović, W. Janssens, B. Lara, M. Barrecheguren, Cruz González, J. Stolk, Christian F. Clarenbach   +25 more
semanticscholar   +1 more source