عنوان ترانسليتريتد: Alpha-1-Antitrypsin-Mangel.

المؤلفون: Fähndrich S; Klinik für Pneumologie, Universitätsklinikum Freiburg, Medizinische Fakultät, Albert-Ludwigs-Universität, Killianstraße 5, 79106, Freiburg, Deutschland. sebastian.faehndrich@uniklinik-freiburg.de., Bals R; Klinik für Innere Medizin V, Universitätsklinikum des Saarlandes, Universität des Saarlandes, Kirrbergerstr. 100, 66421, Homburg, Deutschland. robert.bals@uks.eu.

المصدر: Innere Medizin (Heidelberg, Germany) [Inn Med (Heidelb)] 2024 Jun; Vol. 65 (6), pp. 533-537. Date of Electronic Publication: 2024 May 24.

نوع المنشور: Journal Article; Review; English Abstract

بيانات الدورية: Publisher: Springer Medizin Country of Publication: Germany NLM ID: 9918384885306676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2731-7099 (Electronic) Linking ISSN: 27317080 NLM ISO Abbreviation: Inn Med (Heidelb) Subsets: MEDLINE

مواضيع طبية MeSH: alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/therapy , alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin Deficiency*/epidemiology, Humans ; alpha 1-Antitrypsin/genetics ; Quality of Life

المؤلفون: Lacey N; Royal College of Surgeons in Ireland Dublin, Ireland., Teo JYQ; Royal College of Surgeons in Ireland Dublin, Ireland., Baird R; Royal College of Surgeons in Ireland Dublin, Ireland., Forde L; Royal College of Surgeons in Ireland Dublin, Ireland., Hawkins P; Royal College of Surgeons in Ireland Dublin, Ireland., McEnery T; Royal College of Surgeons in Ireland Dublin, Ireland., Lee MQ; Royal College of Surgeons in Ireland Dublin, Ireland., Hoo MCS; Royal College of Surgeons in Ireland Dublin, Ireland., Gogoi D; Royal College of Surgeons in Ireland Dublin, Ireland., Reeves EP; Royal College of Surgeons in Ireland Dublin, Ireland.

المصدر: American journal of respiratory cell and molecular biology [Am J Respir Cell Mol Biol] 2024 Jun; Vol. 70 (6), pp. 524-527.

نوع المنشور: Letter

بيانات الدورية: Publisher: American Thoracic Society Country of Publication: United States NLM ID: 8917225 Publication Model: Print Cited Medium: Internet ISSN: 1535-4989 (Electronic) Linking ISSN: 10441549 NLM ISO Abbreviation: Am J Respir Cell Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: alpha 1-Antitrypsin Deficiency*/drug therapy , Neutrophils*/metabolism , Blood Platelets*/metabolism , Blood Platelets*/drug effects, Humans ; Platelet Aggregation/drug effects ; alpha 1-Antitrypsin/metabolism ; Male ; Female

المؤلفون: Loomba R; Division of Gastroenterology and Hepatology, Department of Medicine, University of California San Diego, San Diego, California, USA., Clark G; Department of Medicine, University of Florida, Gainesville, Florida, USA., Teckman J; Pediatrics and Biochemistry, St. Louis University School of Medicine, Saint Louis, Missouri, USA., Ajmera V; Division of Gastroenterology and Hepatology, Department of Medicine, University of California San Diego, San Diego, California, USA., Behling C; Division of Gastroenterology and Hepatology, Department of Medicine, University of California San Diego, San Diego, California, USA.; Pacific Rim Pathology Lab, San Diego, California, USA., Brantly M; Division of Pulmonary, Critical Care & Sleep Medicine, University of Florida College of Medicine, Gainesville, Florida, USA., Brenner D; Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA., D'Armiento J; Department of Medicine, Columbia University Medical Center, New York, New York, USA., Fried MW; Target RWE, Durham, North Carolina, USA., Iyer JS; PathAI Inc, Boston, Massachusetts, USA., Mandorfer M; Vienna Hepatic Hemodynamic Lab, Division of Gastroenterology & Hepatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria., Rockey DC; Medical University of South Carolina, Charleston, South Carolina, USA., Tincopa M; University of California San Diego, San Diego, California, USA., Vuppalanchi R; Indiana University School of Medicine, Indianapolis, Indiana, USA., Younossi Z; Inova Liver Disease Services, Fairfax, Virginia, USA., Krag A; University of Southern Denmark, Odense, Denmark., Turner AM; University of Birmingham, Birmingham, UK., Strnad P; University Hospital RWTH Aachen, Healthcare Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Aachen, Germany.

المصدر: Alimentary pharmacology & therapeutics [Aliment Pharmacol Ther] 2024 May; Vol. 59 (10), pp. 1183-1195. Date of Electronic Publication: 2024 Mar 22.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8707234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2036 (Electronic) Linking ISSN: 02692813 NLM ISO Abbreviation: Aliment Pharmacol Ther Subsets: MEDLINE

مواضيع طبية MeSH: alpha 1-Antitrypsin Deficiency*/complications , Biomarkers* , Drug Development* , Liver Diseases*/etiology, Humans ; alpha 1-Antitrypsin ; Risk Factors ; Disease Progression

المؤلفون: Ramos-Díaz R; Fundación Canaria Instituto de Investigación Sanitaria de Canarias (FIISC) - Unidad de Investigación Complejo Hospitalario Universitario de Canarias, Servicio de Farmacia, Tenerife, Spain., Escuela-Escobar A; Genetics Laboratory, Institute of Tropical Diseases and Public Health of the Canary Islands (IUETSPC), Universidad de La Laguna (ULL), Tenerife, Spain; Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), Tenerife, Spain., Díaz-Usera A; Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), Tenerife, Spain., Hernández Pérez JM; Department of Respiratory Medicine, Hospital Universitario de N.S de Candelaria, Tenerife, Spain., González-Carracedo MA; Genetics Laboratory, Institute of Tropical Diseases and Public Health of the Canary Islands (IUETSPC), Universidad de La Laguna (ULL), Tenerife, Spain; Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), Tenerife, Spain. Electronic address: mgonzalc@ull.edu.es., Pérez-Pérez JA; Genetics Laboratory, Institute of Tropical Diseases and Public Health of the Canary Islands (IUETSPC), Universidad de La Laguna (ULL), Tenerife, Spain; Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), Tenerife, Spain.

المصدر: Gene [Gene] 2024 Aug 30; Vol. 921, pp. 148540. Date of Electronic Publication: 2024 May 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: alpha 1-Antitrypsin*/genetics , Real-Time Polymerase Chain Reaction*/methods , Alleles* , Diamines* , Benzothiazoles* , Quinolines* , Organic Chemicals*, Humans ; alpha 1-Antitrypsin Deficiency/genetics ; Polymorphism, Single Nucleotide ; Genotyping Techniques/methods ; Genotype ; Fluorescent Dyes/chemistry

المؤلفون: Chan ED; Department of Academic Affairs, National Jewish Health, Denver, Colorado.

المصدر: American journal of respiratory and critical care medicine [Am J Respir Crit Care Med] 2024 Apr 15; Vol. 209 (8), pp. 1033-1034.

نوع المنشور: Letter

بيانات الدورية: Publisher: American Thoracic Society Country of Publication: United States NLM ID: 9421642 Publication Model: Print Cited Medium: Internet ISSN: 1535-4970 (Electronic) Linking ISSN: 1073449X NLM ISO Abbreviation: Am J Respir Crit Care Med Subsets: MEDLINE

مواضيع طبية MeSH: alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin Deficiency*/drug therapy , alpha 1-Antitrypsin Deficiency*/genetics , Pulmonary Emphysema*, Humans ; alpha 1-Antitrypsin/therapeutic use ; Spirometry

المؤلفون: Ferrarotti I; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Department of Internal Medicine and Therapeutics, Pneumology Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. I.Ferrarotti@smatteo.pv.it., Wencker M; conresp, Loerzweiler, Germany., Chorostowska-Wynimko J; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 22; Vol. 19 (1), pp. 82. Date of Electronic Publication: 2024 Feb 22.

نوع المنشور: Systematic Review; Journal Article; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/complications, Humans ; alpha 1-Antitrypsin/genetics ; Germany ; Italy ; Lung ; Spain

المؤلفون: Karadoğan D; School of Medicine, Department of Chest Diseases, Recep Tayyip Erdoğan University, Rize, Türkiye. cakmakcidilek@yahoo.com., Şahin Ü; School of Medicine, Department of Chest Diseases, Recep Tayyip Erdoğan University, Rize, Türkiye., Dreger B; Pulmonology Medical Affairs, Grifols Deutschland GmbH, Frankfurt, Germany., Grandoso L; Progenika Biopharma, a Grifols company, Derio, Spain., Osaba L; Progenika Biopharma, a Grifols company, Derio, Spain.

المصدر: BMC pulmonary medicine [BMC Pulm Med] 2024 Feb 21; Vol. 24 (1), pp. 91. Date of Electronic Publication: 2024 Feb 21.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968563 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2466 (Electronic) Linking ISSN: 14712466 NLM ISO Abbreviation: BMC Pulm Med Subsets: MEDLINE

مواضيع طبية MeSH: alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/complications, Female ; Humans ; Adult ; Homozygote ; Turkey ; Sequence Deletion ; alpha 1-Antitrypsin/genetics ; Lung/diagnostic imaging

المؤلفون: Laviña E; Servicio de Neumología, Hospital Universitario de Guadalajara, Guadalajara, Spain.; Escuela de Doctorado, Programa Doctoral en Ciencias de la Salud, Universidad de Alcalá, Alcalá de Henares, Madrid, Spain., Lumbreras S; Departamento de Organización Industrial, Escuela Técnica Superior de Ingeniería (ICAI), Universidad Pontificia Comillas - IIT, Madrid, Spain., Bravo L; Servicio de Neumología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, Spain., Soriano JB; Servicio de Neumología, Hospital Universitario de la Princesa; Facultad de Medicina, Universidad Autónoma de Madrid; and Centro de Investigación Biomédica En Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III; All in Madrid, Madrid, Spain., Izquierdo JL; Servicio de Neumología, Hospital Universitario de Guadalajara, Guadalajara, Spain.; Departamento de Medicina y Especialidades Médicas, Universidad de Alcalá, Alcalá de Henares, Madrid, Spain., Rodríguez JM; Servicio de Neumología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, Spain.; Departamento de Medicina y Especialidades Médicas, Universidad de Alcalá, Alcalá de Henares, Madrid, Spain.

المصدر: International journal of chronic obstructive pulmonary disease [Int J Chron Obstruct Pulmon Dis] 2024 Feb 03; Vol. 19, pp. 353-361. Date of Electronic Publication: 2024 Feb 03 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: DOVE Medical Press Country of Publication: New Zealand NLM ID: 101273481 Publication Model: eCollection Cited Medium: Internet ISSN: 1178-2005 (Electronic) Linking ISSN: 11769106 NLM ISO Abbreviation: Int J Chron Obstruct Pulmon Dis Subsets: MEDLINE

مواضيع طبية MeSH: alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin Deficiency*/diagnostic imaging , Pulmonary Disease, Chronic Obstructive*/epidemiology , Pulmonary Emphysema*/diagnostic imaging , Pulmonary Emphysema*/epidemiology , Pulmonary Emphysema*/genetics, Humans ; alpha 1-Antitrypsin/genetics ; Case-Control Studies ; Thorax ; Tomography, X-Ray Computed

المؤلفون: Ellis P; Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.; University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom., Parekh G; Mologic Ltd, Thurleigh, Bedford, United Kingdom., Duvoix A; Mologic Ltd, Thurleigh, Bedford, United Kingdom., Watson L; Mologic Ltd, Thurleigh, Bedford, United Kingdom., Sharp A; Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom., Mobeen F; Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom., Pye A; Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom., Stockley R; Institute of Inflammation and Aging, University of Birmingham, Birmingham, United Kingdom., Turner A; Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.; University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom.

المصدر: PloS one [PLoS One] 2024 Feb 02; Vol. 19 (2), pp. e0297125. Date of Electronic Publication: 2024 Feb 02 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Pulmonary Disease, Chronic Obstructive*/complications , Pulmonary Disease, Chronic Obstructive*/diagnosis , Pulmonary Disease, Chronic Obstructive*/drug therapy , alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin Deficiency*/drug therapy, Humans ; Quality of Life ; Lung ; Disease Progression ; Biomarkers ; alpha 1-Antitrypsin

المؤلفون: Hogarth DK; University of Chicago Medical Center, Chicago, IL, USA. Electronic address: dhogarth@uchicago.edu., Delage A; Institut Universitaire de Cardiologie et de Pneumologie de Québec, Hôpital Laval, Quebec, Canada; Université de Sherbrooke, Sherbrooke, Canada., Zgoda MA; Dignity Health Medical Group, Phoenix, AZ, USA., Nsiah-Dosu S; Olympus Europa SE & Co. KG, Hamburg, Germany., Himes D; Olympus Corporation of America, Westborough, MA, USA., Reed MF; Penn State Health Milton S. Hershey Medical Center, Hershey, PA, USA.

المصدر: Respiratory medicine [Respir Med] 2024 Apr; Vol. 224, pp. 107565. Date of Electronic Publication: 2024 Feb 14.

نوع المنشور: Multicenter Study; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 8908438 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-3064 (Electronic) Linking ISSN: 09546111 NLM ISO Abbreviation: Respir Med Subsets: MEDLINE

مواضيع طبية MeSH: Pulmonary Emphysema* , alpha 1-Antitrypsin Deficiency*/complications , Pulmonary Disease, Chronic Obstructive*/complications, Humans ; Quality of Life ; Prospective Studies ; Forced Expiratory Volume ; Dyspnea/complications ; Treatment Outcome ; alpha 1-Antitrypsin