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Last Posted: Jan 05, 2023

• 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)
• 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
• 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
• 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
• Gene Therapy in Rare Respiratory Diseases: What Have We Learned So Far?
  Bañuls Lucía et al. Journal of clinical medicine 2020 Aug 9(8)
• 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
• Advances in Alpha-1 Antitrypsin Gene Therapy.
  Lorincz Reka et al. American journal of respiratory cell and molecular biology 2020 Jul
• Alpha-1 Antitrypsin Deficiency: a Rare Disease?
  Cortes-Lopez Roxana et al. Current allergy and asthma reports 2020 Jun 20(9) 51
• 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
• 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
• Alpha-1 Antitrypsin Deficiency and Pregnancy.
  Gaeckle Nate T et al. COPD 2020 Apr 1-7
• 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
• 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
• 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
• 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
• Identifying Alpha-1 Antitrypsin Deficiency Based on Computed Tomography Evidence of Emphysema.
  Miskoff Jeffrey A et al. Cureus 2019 Jan 11(1) e3971
• Pharmacogenomics of chronic obstructive pulmonary disease.
  Hersh Craig P et al. Expert review of respiratory medicine 2019 Mar
• A Stress Buffering Perspective on the Progression of Alpha-1 Antitrypsin Deficiency.
  Tian Xi et al. Health communication 2019 Mar 1-9
• 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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