ReviewOrphanet journal of rare diseases2020
Detection of alpha-1 antitrypsin deficiency: the past, present and future.
Review in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.Orphanet journal of rare diseases · 2024Pooled it
- Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews.European respiratory review : an official journal of the European Respiratory Society · 2022Pooled it
- Evaluating Alpha-1 Antitrypsin Deficiency testing across Europe to ensure diagnostic accuracy: an EARCO multicentre project.Respiratory research · 2026Article
- Clinical Characteristics and Health Care Resource Utilization Among Individuals Undergoing Alpha-1 Antitrypsin Testing in a Quaternary Health System.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2026Article
- Patient experience of alpha-1 antitrypsin deficiency-associated liver disease: a qualitative study.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2025Article
- Alpha-1 antitrypsin deficiency-associated liver disease: From understudied disorder to the poster child of genetic medicine.Hepatology communications · 2025Review
- Accurate Identification of Pathogenic Mutations Conferring αCHEST pulmonary · 2025Article
- Improving the Likelihood of Identifying Alpha-1 Antitrypsin Deficiency Among Patients With COPD: A Novel Predictive Model Using Real-World Data.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2025Article
- Clinical and Economic Outcomes in Patients With Alpha-1 Antitrypsin Deficiency in a US Medicare Advantage Population.Journal of health economics and outcomes research · 2025Article
- Association of circulating Z-polymer with adverse clinical outcomes and liver fibrosis in adults with alpha-1 antitrypsin deficiency.United European gastroenterology journal · 2024Article
- Improving Wildfire Readiness Among Patients With Chronic Obstructive Pulmonary Disease and Asthma: Applying a Population Health Approach to Climate Change.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2024Article
- Transient growth factor expression via mRNA in lipid nanoparticles promotes hepatocyte cell therapy in mice.Nature communications · 2024Article
- Detection of Alpha-1 Antitrypsin Levels in Chronic Obstructive Pulmonary Disease in Respiratory Clinics in Spain: Results of the EPOCONSUL 2021 Audit.Journal of clinical medicine · 2024Article
- Recommendations for the diagnosis and treatment of alpha-1 antitrypsin deficiency.Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia · 2024Article
- Berberine potentiates liver inflammation and fibrosis in the PI*Z hAAT transgenic murine model.PloS one · 2024Article
- Alpha-1-Antitrypsin (A1AT) Proteotyping by LC-MS/MS.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Provider Education in Alpha 1 Antitrypsin Deficiency: Try Again, Fail Again, Fail Better.ATS scholar · 2023Article
- Impact of Coronavirus Disease 2019 and Vaccination Attitudes on Alpha-1 Antitrypsin Deficiency.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2023Article
- Cardiovascular Risk Associated with Alpha-1 Antitrypsin Deficiency (AATD) Genotypes: A Meta-Analysis with Meta-Regressions.Journal of clinical medicine · 2023Article
- Development of a risk score to increase detection of severe alpha-1 antitrypsin deficiency.ERJ open research · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 11 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMost patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development. Improving the detection rate for AATD is therefore a high priority for the Alpha-1 Foundation. A workshop was held on June 23, 2019 in Orlando, Florida during which stakeholders from the research, pharmaceutical, and patient communities focused on the topic of alpha-1 antitrypsin deficiency detection.
resultsA variety of detection strategies have been explored in the past and new approaches are emerging as technology advances. Targeted detection includes patients with chronic obstructive pulmonary disease, unexplained chronic liver disease, and family members of affected individuals. Newborn screening, electronic medical record data mining, and direct-to-consumer testing remain options for future detection strategies.
conclusionThese meeting proceedings can serve as a basis for innovative approaches to the detection of alpha-1 antitrypsin deficiency.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.