Homozygous deficiency of alpha-1 antitrypsin is the most common inborn error or metabolism in Europe. Severe deficiency of this major protease inhibitor in serum is associated with chronic obstructive lung disease, chronic liver disease in adults and neonatal hepatitis. An overview is given of the ...
OBJECTIVE: Alpha1-antitrypsin deficiency is a rare hereditary disorder. Deficient patients are at a higher risk to develop lung emphysema at an early age. The alpha1-antitrypsin registry was founded on 1996 to get new insights into the pathogenesis of the disease and to develop new therapeutic ...
Koinzidenz von Granulomatose mit Polyangiitis und alpha-1-Antitrypsin-Mangeldoi:10.1055/s-0043-1761044Baier, JLepiorz, MMetzler, CPfeifer, MPneumologie
Lungenvolumenreduktion mit Einweg-Ventilen bei fortgeschrittenem Lungenemphysem bei Alpha-1-Antitrypsin-Mangel: Ergebnisse aus dem Lungenemphysemregister e.V.doi:10.1055/s-0043-1761011Thomas, SStanzel, FGrah, CHolland, AGebhardt, AFicker, J...
Alpha-1 antitrypsinHeterozygous deficiencyChronic liver diseaseNo Abstract available for this article.doi:10.1007/s11812-011-0079-7Karin Schmid-Scherzer2. Medizinische Abteilung Lungenabteilung Wilhelminenspital der Stadt Wien AustriaMeinhard Kneussl...
Laboratory testing in suspected alpha-1-antitrypsin (A1AT) deficiency involves analysis of A1AT concentrations and identification of specific alleles by genotyping or phenotyping. The purpose of this study was to define and evaluate a strategy that provides reliable laboratory evaluation of A1AT ...
Update Alpha-1-Antitrypsin-Mangeldoi:10.1007/s15033-024-4040-8Greulich, TimmUniversitätsklinikum Gießen und Marburg GmbH, Klinik für Innere Medizin, Marburg, DeutschlandBselt, TobiasDt. Zentrum für Lungenforschung, UKGM - Univ.-Klinikum Gießen und Marburg GmbH, Marburg, Deutschland...
doi:10.1007/s11812-011-0011-1Karin Schmid-Scherzer2. Medizinische Abteilung Lungenabteilung Wilhelminenspital der Stadt Wien Medizinische Universität Wien AustriaMeinhard Kneussl2. Medizinische Abteilung Lungenabteilung Wilhelminenspital der Stadt Wien Medizinische Universität Wien Austria...
Schlüsselwörter: Alpha-1-AntitrypsinmangelProteaseninhibitormangelAortenaneurysmaRisikofaktorenA potential role of homozygous or heterozygous alpha-1-antitrypsin deficiency alleles Pi * Z or Pi*S in the pathogenesis of aortic aneurysms has been debated in recently published papers. Therefore, we have...
Impuls gegen Alpha-1-AntitrypsinmangelThe treatment and management of chronic obstructive pulmonary disease (COPD) have gone through significant changes over the past decade. This plenary session, part of the 2015 COPD9USA conference, examines how the diagnosis and management of COPD has become more...