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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
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Last data update: May 09, 2024
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Detection of Alpha-1 Antitrypsin Levels in Chronic Obstructive Pulmonary Disease in Respiratory Clinics in Spain: Results of the EPOCONSUL 2021 Audit.
Myriam Calle Rubio et al. J Clin Med 2024 13(4)
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Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations.
Elena Martín-González et al. Pulmonology 2023
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Genetic and Serum Screening for Alpha-1-Antitrypsin Deficiency in Adult Patients with Cystic Fibrosis: A Single-Center Experience.
Amati Francesco et al. Biomedicines 2022 10(12)
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Leave no one behind: inclusion of alpha-1 antitrypsin deficiency patients in COVID-19 vaccine trials
C Yang, EJHG, January 28, 2022
Prevalence of Alpha-1 Antitrypsin Deficiency, Self-reported Behavior Change, and Healthcare Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report.
Ashenhurst James R et al. Chest 2021
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Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil.
Jardim José R et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 2021 47(3) e20200380
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Comorbidity Associations with AATD Among Commercially Insured and Medicare Beneficiaries with COPD in the US.
Sandhaus Robert et al. International journal of chronic obstructive pulmonary disease 2020 152389-2397
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Gene Therapy in Rare Respiratory Diseases: What Have We Learned So Far?
Bañuls Lucía et al. Journal of clinical medicine 2020 Aug 9(8)
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Leveraging Population Genomics for Individualized Correction of the Hallmarks of Alpha-1 Antitrypsin Deficiency.
Wang Chao et al. Chronic obstructive pulmonary diseases (Miami, Fla.) 2020 Jul 7(3) 224-246
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Advances in Alpha-1 Antitrypsin Gene Therapy.
Lorincz Reka et al. American journal of respiratory cell and molecular biology 2020 Jul
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Alpha-1 Antitrypsin Deficiency: a Rare Disease?
Cortes-Lopez Roxana et al. Current allergy and asthma reports 2020 Jun 20(9) 51
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Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology.
Veith Martina et al. International journal of chronic obstructive pulmonary disease 2019 142535-2542
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Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.
Nicastro Emanuele et al. The Journal of pediatrics 2019 21154-62.e4
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Detection of alpha-1 antitrypsin deficiency: the past, present and future.
Brantly Mark et al. Orphanet journal of rare diseases 2020 Apr 15(1) 96
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Alpha-1 Antitrypsin Deficiency and Pregnancy.
Gaeckle Nate T et al. COPD 2020 Apr 1-7
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New Patient-Centric Approaches to the Management of Alpha-1 Antitrypsin Deficiency.
Chorostowska-Wynimko Joanna et al. International journal of chronic obstructive pulmonary disease 2020 15345-355
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Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management.
Schonfeld Emily A et al. The Medical clinics of North America 2019 Nov 103(6) 991-1003
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CLINGEN Actionability Report for Alpha-1 Antitrypsin Deficiency - SERPINA1
ClinGen Actionability Working Group
Alpha-1 antitrypsin deficiency: From the lung to the heart?
Curjuric Ivan et al. Atherosclerosis 2018 270166-172
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Alpha-1 antitrypsin deficiency: outstanding questions and future directions.
Torres-Durán María et al. Orphanet journal of rare diseases 2018 13(1) 114
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Clinical Experience with SERPINA1 DNA Sequencing to Detect Alpha-1 Antitrypsin Deficiency.
Maltais François et al. Annals of the American Thoracic Society 2018 15(2) 266-268
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Identifying Alpha-1 Antitrypsin Deficiency Based on Computed Tomography Evidence of Emphysema.
Miskoff Jeffrey A et al. Cureus 2019 Jan 11(1) e3971
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Pharmacogenomics of chronic obstructive pulmonary disease.
Hersh Craig P et al. Expert review of respiratory medicine 2019 Mar
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A Stress Buffering Perspective on the Progression of Alpha-1 Antitrypsin Deficiency.
Tian Xi et al. Health communication 2019 Mar 1-9
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Genetic profiling for disease stratification in chronic obstructive pulmonary disease and asthma.
Rathnayake Senani N H et al. Current opinion in pulmonary medicine 2019 Feb
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Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?
da Costa Cláudia Henrique et al. BMC research notes 2019 Jan 12(1) 10
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Portuguese consensus document for the management of alpha-1-antitrypsin deficiency.
Lopes A P et al. Pulmonology 2018 Dec 24 Suppl 11-21
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A Novel Approach to Screening for Alpha-1 Antitrypsin Deficiency: Inpatient Testing at a Teaching Institution.
Tasch James J et al. Chronic obstructive pulmonary diseases (Miami, Fla.) 2018 Apr 5(2) 106-110
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Alpha-1-Antitrypsin Deficiency: Disease Management and Learning from Studies.
Greulich Timm et al. COPD 2017 Mar 14(sup1) S8-S11
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Long-term clinical outcomes following treatment with alpha 1-proteinase inhibitor for COPD associated with alpha-1 antitrypsin deficiency: a look at the evidence.
Rahaghi Franck F et al. Respiratory research 2017 May 18(1) 105
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 09, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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