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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 evidence only (32)Meta-analysis (8)Treatment guideline (5)Randomized trial (8)Systematic review (6)Phase 3 study (5)Clinical trial (181)Review article (176)Early study (phase 1 or 2) (9)Case report (114)Laboratory or animal study (26)Commentary or editorial (90)Retracted publication (1)

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Publications and studies (1172)

• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Co-occurrence of Alpha-1 Antitrypsin Deficiency (AATD) and Common Variable Immunodeficiency (CVID): A Case Report. (2025/11/13) ♡
• 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. Rare liver diseases - Etiology, diagnosis and management: A review. (2025/11/12) ♡
• A compact base editor rescues AATD-associated liver and lung disease in mouse models. (2025/11/05) ♡
• The Epidemiology of Alpha-1 Antitrypsin Deficiency in Norway. (2025/11/05) ♡
• Lung disease in never-smokers with severe α(1)-antitrypsin deficiency: the EARCO Registry. (2025/11/03) ♡
• 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. Molecular Advances in Cholestatic Liver Diseases. (2025/11/01) ♡
• Administrative coding for alpha-1 antitrypsin deficiency including the pi*ZZ phenotype is accurate in Sweden. (2025/11/01) ♡
• Pioglitazone reduces hepatic α-1 antitrypsin accumulation through autophagy and AMPK activation in α-1 antitrypsin-deficient mice. (2025/11/01) ♡
• 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. Pediatric Liver Diseases: Next-Generation Therapies. (2025/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Lisdexamfetamine-Induced Angioedema and Leukocytoclastic Vasculitis: A Case Report. (2025/11/01) ♡
• 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. Rare but relevant: Genetic liver disease in the general medical setting. (2025/11/01) ♡
• Elevated alpha-1 antitrypsin and C-reactive protein: association on all-cause and cause-specific mortality in older adults. (2025/10/29) ♡
• Role of the alpha-1 antitrypsin in the progression and severity of COVID-19 infection among Saudi patients. (2025/10/28) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: α1-antitrypsin deficiency causing persistent pleural effusion and multilobar alveolar emphysema in a young dog. (2025/10/28) ♡
• α(1)-Antitrypsin deficiency and increased risk of atrial fibrillation in two large population-based cohorts. (2025/10/27) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Is α(1)-antitrypsin deficiency a cardiovascular risk factor? (2025/10/27) ♡
• Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Alpha-1 antitrypsin deficiency and granulomatosis with polyangiitis: a systematic review and meta-analysis. (2025/10/22) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Early-onset bibasilar emphysema in a patient with PLCG2-related immune dysregulation. (2025/10/18) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Characterization of alpha-1 antitrypsin in a Pi∗ZZ patient with emphysema: a case report. (2025/10/17) ♡
• 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 new SERPINA1 null allele of the PI*S-plus type: PI*Q0(Tegueste). (2025/10/10) ♡
• Protein Aggregates in Heterozygous Alpha-1 Antitrypsin Phenotype Is a Marker for Progressive Disease. (2025/10/07) ♡
• Distribution of SERPINA1 gene mutations in patients with spontaneous pneumothorax: A cross-sectional study from a tertiary chest diseases clinic in Turkiye. (2025/10/03) ♡
• Characterisation of patients with Alpha-1 antitrypsin deficiency using unsupervised machine learning tools. (2025/10/01) ♡
• Galectin-8 binding to alpha-1 antitrypsin is a physiological mechanism in healthy individuals but exacerbates the symptoms of alpha-1 antitrypsin deficiency. (2025/10/01) ♡
• Improving Screening for Alpha-1 Antitrypsin Deficiency in Adults with COPD. (2025/10/01) ♡
• Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Applications of Artificial Intelligence in Alpha-1 Antitrypsin Deficiency: A Systematic Review from a Respiratory Medicine Perspective. (2025/09/30) ♡
• Pi*M Palermo Mutation in Bronchiectasis due to Alpha-1 Antitrypsin Deficiency: A Rare Genetic Cause. (2025/09/29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Plasma proteome correlations with liver stiffness in pediatric cholestasis implicate epithelial to mesenchymal transition. (2025/09/29) ♡
• 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. Toward precision medicine in COPD: phenotypes, endotypes, biomarkers, and treatable traits. (2025/09/29) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. A cure for alpha-1? Novel therapeutics in alpha-1 antitrypsin deficiency. (2025/09/25) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Phenotypic Expression of Respiratory Diseases and Tailored Treatment in Patients with Intermediate Alpha-1 Antitrypsin Deficiency: Evidence from a Retrospective Analysis of a Selected Cohort of Patients. (2025/09/25) ♡
• 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. Alpha-1 antitrypsin deficiency: genetics, clinical manifestations, AI prognostics, and advanced imaging in liver disease. (2025/09/23) ♡
• Strawberry Gingivitis as the Initial Manifestation of Granulomatosis with Polyangiitis in A Patient with Alpha-1 Antitrypsin Deficiency. (2025/09/16) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Upadacitinib in a Refractory Case of Alpha-1 Antitrypsin Deficiency-Related Panniculitis. (2025/09/16) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. PiComplutense (p.Pro393Thr): A novel SERPINA1 variant in Alpha-1 antitrypsin deficiency identified in two siblings. (2025/09/15) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. A synergistic approach to curative liver therapy: multiplex CRISPR-Cas12a and repair drive for alpha-1 antitrypsin deficiency (AATD). (2025/09/15) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Shotgun metagenomics detects the human pegivirus complete genome in a pediatric patient with acute hepatitis of unknown etiology: a case report. (2025/09/11) ♡
• Prospective Multicenter Longitudinal Measurement of Liver Stiffness in School-Age Children With Cholestatic Liver Disease. (2025/09/02) ♡
• Sleep apnea among individuals with Alpha-1 antitrypsin deficiency-associated lung disease. (2025/09/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of an induced pluripotent stem cell line HHUUKDi013-A (ISRM-AATD-iPSC-3) from a pediatric patient of Alpha-I Antitrypsin Deficiency (AATD). (2025/09/01) ♡
• Correction to 'Underdiagnosis of Alpha-1 Antitrypsin Deficiency in Cirrhotic Liver Transplant Candidates: Findings From a Multicenter Retrospective Study'. (2025/09/01) ♡
• 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. Next-Generation Regenerative Therapies for Alpha-1 Antitrypsin Deficiency: Molecular Pathogenesis to Clinical Translation. (2025/09/01) ♡
• Alpha-1 Antitrypsin Genotype Distribution in Patients with Emphysema. (2025/08/11) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prevalence of genetic mutations in Alpha-1 antitrypsin in patients with difficult-to-treat asthma in Colombia. (2025/08/08) ♡
• Impact of Acute Kidney Injury on Mortality Outcomes in Patients Hospitalized for COPD Exacerbation: A National Inpatient Sample Analysis. (2025/07/31) ♡
• Alpha-1 antitrypsin deficiency with the rare IZ phenotype presenting as cystic lung disease. (2025/07/18) ♡
• Assessing inflammatory protein biomarkers in COPD subjects with and without alpha-1 antitrypsin deficiency. (2025/07/15) ♡
• Rethinking FIB-4: The hidden zonal bias in alpha-1 antitrypsin deficiency. (2025/07/14) ♡
• Increased exacerbations and hospitalizations among PI*MZ compared to PI*MM individuals: an electronic health record analysis. (2025/07/11) ♡
• Susceptibility of alpha-1 antitrypsin deficiency variants to polymer-blocking therapy. (2025/07/08) ♡

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