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Alpha-1 antitrypsin deficiency associated with increased risk of venous thromboembolism: a nationwide cohort study in Denmark2026 Research and Practice in Thrombosis and Haemostasis article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Sine Voss David, Malin Fromme, Katharina Remih, Børge Grønne Nordestgaard, Pavel Strnad, Morten Dahl
0citations -
Pyridoxine or pyridoxal‐5‐phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study2022 Developmental Medicine & Child Neurology article Medicine Trypanosoma species research and implications Open access
Allan Bayat, Ángel Aledo‐Serrano, António Gil‐Nagel, Christian M. Korff, Ashley E. Thomas, Christian M. Boßelmann, +5 more
16citations -
Is iron deficiency caused by BMPR2 mutations or dysfunction in pulmonary arterial hypertension patients?2023 Pulmonary Circulation article Medicine Pulmonary Hypertension Research and Treatments Open access
Vivienne Theobald, Ekkehard Grünig, Nicola Benjamin, Hans‐Jürgen Seyfarth, Michael Halank, Marc Andre Schneider, +11 more
8citations -
Loss of the Mechanistic Target of Rapamycin Complex 1 Causes a Lethal Alpha-1 Antitrypsin Deficiency–Associated Liver Disease2026 RWTH Publications (RWTH Aachen) article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Lisa Bewersdorf, S. Haber, Ines Volkert, Katharina Remih, Annika Groß, Christian Preisinger, +11 more
0citations -
Review article: New developments in biomarkers and clinical drug development in alpha‐1 antitrypsin deficiency‐related liver disease2024 Alimentary Pharmacology & Therapeutics article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Rohit Seth Loomba, Ginger Clark, Jeffrey H. Teckman, Veeral H. Ajmera, Cynthia A. Behling, Mark Brantly, +12 more
11citations -
New cis -Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency2020 American Journal of Respiratory Cell and Molecular Biology article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Nerea Matamala, Gema Gómez‐Mariano, José Antonio Pérez Pérez, Beatriz Baladrón, María Torres‐Durán, Francisco Javier Michel, +7 more
7citations -
Alcohol consumption and liver phenotype of individuals with alpha‐1 antitrypsin deficiency2024 Liver International article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Malin Fromme, Carolin Victoria Schneider, Nurdan Güldiken, Samira Amzou, Yizhao Luo, Mònica Pons, +15 more
6citations -
Severe alpha-1 antitrypsin deficiency is associated with a higher risk of complications after first decompensation than other aetiologies of cirrhosis2025 JHEP Reports article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Lorenz Balcar, Malin Fromme, Naomi Kappe, Benedikt Schaefer, Soňa Fraňková, Lukas Van Melkebeke, +19 more
2citations -
Identification of potential confounding factors for the evaluation of clinical outcomes in alpha-1-antitrypsin deficiency-associated liver disease2025 Journal of Medicine Surgery and Public Health article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Heiner Wedemeyer, Frank Tacke, Christoph P. Berg, Pavel Strnad, Thomas Welsh, Daniela Skalt, +2 more
0citations -
Fazirsiran for Liver Disease Associated with Alpha 1 -Antitrypsin Deficiency2022 New England Journal of Medicine article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access cited by 3 patents
Pavel Strnad, Mattias Mandorfer, Gourab Choudhury, William J. Griffiths, Christian Trautwein, Rohit Seth Loomba, +7 more
120citations -
Once-weekly Somapacitan is Effective and Well Tolerated in Adults with GH Deficiency: A Randomized Phase 3 Trial2020 The Journal of Clinical Endocrinology & Metabolism article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Gudmundur Johannsson, Murray B. Gordon, Michael Højby Rasmussen, Ida Holme Håkonsson, Wölfram Karges, Claus Sværke, +3 more
81citations -
Hepatobiliary phenotypes of adults with alpha-1 antitrypsin deficiency2021 Gut article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Malin Fromme, Carolin Victoria Schneider, Vítor Magno Pereira, Karim Hamesch, Mònica Pons, Matthias Reichert, +38 more
80citations -
Fazirsiran for Adults With Alpha-1 Antitrypsin Deficiency Liver Disease: A Phase 2 Placebo Controlled Trial (SEQUOIA)2024 Gastroenterology article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Virginia Clark, Charlie Strange, Pavel Strnad, Antonio J. Sanchez, Paul Yien Kwo, Vítor Magno Pereira, +18 more
31citations