Alpha-1 Antitrypsin Deficiency
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
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 20, 2023
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