المؤلفون: Xu KK; Alix School of Medicine, Mayo Clinic, Rochester, MN. Electronic address: xu.kathryn@mayo.edu., Proffer SL; Department of Dermatology, Mayo Clinic, Rochester, MN., Wieland C; Department of Dermatology and Laboratory Medicine, Mayo Clinic, Rochester, MN.

المصدر: Mayo Clinic proceedings [Mayo Clin Proc] 2024 Aug; Vol. 99 (8), pp. 1210-1211. Date of Electronic Publication: 2024 Jul 03.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: [Oxford, England] Country of Publication: England NLM ID: 0405543 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1942-5546 (Electronic) Linking ISSN: 00256196 NLM ISO Abbreviation: Mayo Clin Proc Subsets: MEDLINE

مواضيع طبية MeSH: alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/diagnosis , Panniculitis*/etiology , Panniculitis*/diagnosis, Humans ; Male ; Female ; alpha 1-Antitrypsin/blood ; alpha 1-Antitrypsin/genetics

المؤلفون: Scioscia G; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy; Department of Specialistic Medicine, Respiratory Care Unit, University-Hospital Policlinico of Foggia, Foggia, Italy., Santacroce R; Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy; Medical Genetics Unit, University-Hospital Policlinico of Foggia, 71122 Foggia, Italy., Tondo P; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy. Electronic address: pasquale.tondo@unifg.it., Hoxhallari A; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy; Department of Specialistic Medicine, Respiratory Care Unit, University-Hospital Policlinico of Foggia, Foggia, Italy., Soccio P; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy., Giuffreda E; Department of Specialistic Medicine, Respiratory Care Unit, University-Hospital Policlinico of Foggia, Foggia, Italy., D'Ambrosio MF; Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy; Medical Genetics Unit, University-Hospital Policlinico of Foggia, 71122 Foggia, Italy., Leccese A; Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy; Medical Genetics Unit, University-Hospital Policlinico of Foggia, 71122 Foggia, Italy., Paladini L; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy; Department of Specialistic Medicine, Respiratory Care Unit, University-Hospital Policlinico of Foggia, Foggia, Italy., Natale MP; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy; Department of Specialistic Medicine, Respiratory Care Unit, University-Hospital Policlinico of Foggia, Foggia, Italy., Moriondo G; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy., Foschino Barbaro MP; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy; Department of Specialistic Medicine, Respiratory Care Unit, University-Hospital Policlinico of Foggia, Foggia, Italy., Margaglione M; Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy; Medical Genetics Unit, University-Hospital Policlinico of Foggia, 71122 Foggia, Italy., Lacedonia D; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy; Department of Specialistic Medicine, Respiratory Care Unit, University-Hospital Policlinico of Foggia, Foggia, Italy.

المصدر: Archivos de bronconeumologia [Arch Bronconeumol] 2024 Sep; Vol. 60 (9), pp. 595-597. Date of Electronic Publication: 2024 May 31.

نوع المنشور: Letter; Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier España Country of Publication: Spain NLM ID: 0354720 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1579-2129 (Electronic) Linking ISSN: 03002896 NLM ISO Abbreviation: Arch Bronconeumol Subsets: MEDLINE

مواضيع طبية MeSH: alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/complications, Humans ; Italy/epidemiology ; Male ; Female ; Mass Screening ; Middle Aged ; alpha 1-Antitrypsin/genetics ; Aged ; Adult

المؤلفون: Morrow JD; Brigham and Women's Hospital Boston, Massachusetts.; Harvard Medical School Boston, Massachusetts., Yun JH; Brigham and Women's Hospital Boston, Massachusetts.; Harvard Medical School Boston, Massachusetts., Hersh CP; Brigham and Women's Hospital Boston, Massachusetts.; Harvard Medical School Boston, Massachusetts.

المصدر: American journal of respiratory cell and molecular biology [Am J Respir Cell Mol Biol] 2024 Aug; Vol. 71 (2), pp. 254-256.

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*/genetics , Lung*/metabolism , Lung*/pathology , Transcriptome*/genetics , Single-Cell Analysis*/methods, Humans ; alpha 1-Antitrypsin/genetics ; alpha 1-Antitrypsin/metabolism

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

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: 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; Comment

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: 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: Lechowicz U; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases Warsaw, Poland., Martinez-Delgado B; Molecular Genetics Unit, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), CIBER of Rare Diseases, CIBERER, Madrid, Spain. Electronic address: bmartinezd@isciii.es., Liu B; Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School, Biomedical Research in Endstage and Obstructive Lung Disease Hannover BREATH, Member of the German Center for Lung Research DZL, Hannover, Germany. Electronic address: Liu.Bin@mh-hannover.de., Wrenger S; Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School, Biomedical Research in Endstage and Obstructive Lung Disease Hannover BREATH, Member of the German Center for Lung Research DZL, Hannover, Germany. Electronic address: Wrenger.Sabine@mh-hannover.de., Rozy A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases Warsaw, Poland., Zdral A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases Warsaw, Poland. Electronic address: aneta_zdral@interia.eu., DeLuca DS; Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School, Biomedical Research in Endstage and Obstructive Lung Disease Hannover BREATH, Member of the German Center for Lung Research DZL, Hannover, Germany. Electronic address: DeLuca.David@mh-hannover.de., Welte T; Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School, Biomedical Research in Endstage and Obstructive Lung Disease Hannover BREATH, Member of the German Center for Lung Research DZL, Hannover, Germany. Electronic address: Welte.Tobias@mh-hannover.de., Janciauskiene S; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases Warsaw, Poland; Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School, Biomedical Research in Endstage and Obstructive Lung Disease Hannover BREATH, Member of the German Center for Lung Research DZL, Hannover, Germany. Electronic address: Janciauskiene.Sabina@mh-hannover.de., Chorostowska-Wynimko J; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases Warsaw, Poland.

المصدر: Clinical biochemistry [Clin Biochem] 2024 Apr; Vol. 126, pp. 110736. Date of Electronic Publication: 2024 Feb 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0133660 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2933 (Electronic) Linking ISSN: 00099120 NLM ISO Abbreviation: Clin Biochem Subsets: MEDLINE

مواضيع طبية MeSH: alpha 1-Antitrypsin Deficiency*/genetics , Pregnancy-Associated alpha 2-Macroglobulins* , Pulmonary Disease, Chronic Obstructive*/complications , Pulmonary Disease, Chronic Obstructive*/metabolism, Female ; Animals ; Mice ; Pregnancy ; Humans ; Lung ; Polymers ; alpha 1-Antitrypsin/genetics

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