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Alpha-1 antitrypsin deficiency

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest Level of Evidence Only (35)Meta-analysis (8)Treatment guideline (5)Phase 3 study (8)Randomized trial (8)Systematic review (6)Clinical Trial (169)Review article (176)Early study (phase 1 or 2) (18)Case report (114)Laboratory or animal study (26)Commentary or editorial (90)Retracted publication (1) Only studies currently recruiting participants (28)

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Publications and studies (1172)

• Alpha-1 antitrypsin inhibits Clostridium botulinum C2 toxin, Corynebacterium diphtheriae diphtheria toxin and B. anthracis fusion toxin. (2024/09/11) ♡
• An Electronic Health Record-Based Strategy to Enhance Detection of Alpha-1 Antitrypsin Deficiency. (2024/09/10) ♡
• Limb Perfusion Delivery of a rAAV1 Alpha-1 Antitrypsin Vector in Non-Human Primates Is Safe but Insufficient for Therapy. (2024/09/10) ♡
• Impact of Hypoxia on Neutrophil Degranulation and Inflammatory Response in Alpha-1 Antitrypsin Deficiency Patients. (2024/09/02) ♡
• A Report on a Targeted Screening Population for Alpha-1-Antitrypsin Deficiency (AATD) in Central-Southern Italy. (2024/09/01) ♡
• Ex vivo study on the human blood neutrophil circadian features and effects of alpha1-antitrypsin and lipopolysaccharide. (2024/09/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Genetic background of pulmonary (vascular) diseases - how much is written in the codes? (2024/09/01) ♡
• Allelic frequency of pathogenic α(1)-antitrypsin variants in the Japanese population: Results from a survey of open Japanese genetic variation databases. (2024/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. The value of alpha-1 antitrypsin functional testing and genotyping for the diagnosis of the MS variant of alpha-1 antitrypsin deficiency-associated panniculitis. (2024/09/01) ♡
• [Validation of a method for measuring the antielastolytic activity of human circulating alpha1-antitrypsin]. (2024/08/30) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Alpha-1 antitrypsin deficiency associated with rare SERPINA1 alleles p.(Phe76del) and p.(Asp280Val): A family study. (2024/08/28) ♡
• Alpha-1 antitrypsin deficiency and Pi*Z allele as important co-factors in the development of liver fibrosis. (2024/08/27) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Alpha(1)-Antitrypsin Deficiency. (2024/08/22) ♡
• Assessment and monitoring of lung disease in patients with severe alpha 1 antitrypsin deficiency: a european delphi consensus of the EARCO group. (2024/08/19) ♡
• Alpha-1 Antitrypsin Deficiency. (2024/08/17) ♡
• Differences in bile acid profiles between cholestatic diseases - Development of a high throughput assay for dried bloodspots. (2024/08/15) ♡
• Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a Lithuanian Cohort of Wheezing Small Children. (2024/08/05) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Panniculitis in α(1)-Antitrypsin Deficiency. (2024/08/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Lung Single-Cell Transcriptomics in Alpha-1 Antitrypsin Deficiency. (2024/08/01) ♡
• Patterns and unique features of infantile cholestasis among Arabs. (2024/07/30) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Anasarca Secondary to Protein-Losing Enteropathy Leading to the Diagnosis of a Gastrointestinal Neuroendocrine Tumor in a Young Female: A Case Report From an Indian Suburb. (2024/07/30) ♡
• Improving Wildfire Readiness Among Patients With Chronic Obstructive Pulmonary Disease and Asthma: Applying a Population Health Approach to Climate Change. (2024/07/25) ♡
• Retrospective Database Analysis of Liver-Related Clinical Events in Adult and Pediatric Patients with Alpha-1 Antitrypsin Deficiency in the United States. (2024/07/24) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Antitrypsin deficiency: still more to learn about the lung after 60 years. (2024/07/22) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Applied physiological principles in the management of a lung allograft to thoracic cavity size mismatch in severe emphysema. (2024/07/20) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A rare AAT variant presenting in a COPD patient: Q0 amersfoort mutation. (2024/07/05) ♡
• Accurate Identification of Pathogenic Mutations Conferring α(1)-Antitrypsin Deficiency by a Novel Multiplexed Molecular Assay. (2024/07/04) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A novel in vitro cell model of the proteinase/antiproteinase balance observed in alpha-1 antitrypsin deficiency. (2024/07/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project. (2024/06/26) ♡
• Pi∗S and Pi∗Z Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4-Independent Enhancer. (2024/06/25) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Induced Pluripotent Stem Cells and CRISPR-Cas9 Innovations for Treating Alpha-1 Antitrypsin Deficiency and Glycogen Storage Diseases. (2024/06/18) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Posttransplant Lymphoproliferative Disorder in a Patient With Alpha-1 Antitrypsin Deficiency: A Case Report. (2024/06/10) ♡
• Alpha-1-Antitrypsin Deficiency in Children-Unmet Needs Concerning the Liver Manifestation. (2024/06/06) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. [Alpha 1-antitrypsin deficiency]. (2024/06/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Augmentation Therapy Decreases Platelet-Neutrophil Aggregates in Alpha-1 Antitrypsin Deficiency. (2024/06/01) ♡
• Prevalence of alpha-1 antitrypsin deficiency in patients with acute exacerbation of chronic obstructive pulmonary disease: Insights from a prospective study. (2024/06/01) ♡
• Recombinant Alpha-1 Antitrypsin-Fc Fusion Protein INBRX-101 in Adults With Alpha-1 Antitrypsin Deficiency: A Phase 1 Study. (2024/05/29) ♡
• Clinical trial attitudes among individuals with Alpha-1 antitrypsin deficiency. (2024/05/23) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Assessing the efficacy of Alpha(1)-Proteinase inhibitor (human) augmentation therapy for Alpha(1)-Antitrypsin deficiency - Related emphysema: Challenges and opportunities. (2024/05/23) ♡
• Occurrence of Emphysema in Individuals With Williams-Beuren Syndrome: A Narrative Review. (2024/05/14) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. KF4 anti-CELA1 Antibody and Purified α1-Antitrypsin Have Similar but Not Additive Efficacy in Preventing Emphysema in Murine α1-Antitrypsin Deficiency. (2024/05/10) ♡
• Circulating Mitochondrial DNA Is Associated With High Levels of Fatigue in Two Independent Sarcoidosis Cohorts. (2024/05/01) ♡
• Biomarkers Associated With Future Severe Liver Disease in Children With Alpha-1-Antitrypsin Deficiency. (2024/04/26) ♡
• Tracing genetic diversity captures the molecular basis of misfolding disease. (2024/04/18) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Alpha-1 antitrypsin deficiency. (2024/04/12) ♡
• Long-Term SGRQ Stability in a Cohort of Individuals with Alpha-1 Antitrypsin Deficiency-Associated Lung Disease. (2024/04/10) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Neutrophilic Panniculitides. (2024/04/01) ♡
• Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression. (2024/04/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Alpha-1 antitrypsin deficiency in Madeira Island: The first null variant and the contribution of deficient genotypes. (2024/03/01) ♡
• Danish children with ZZ-homozygous alpha-1 antitrypsin deficiency are more affected on liver parameters than children with heterozygosity. (2024/03/01) ♡

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