Alpha-1 Antitrypsin Deficiency
Last Posted: Oct 28, 2021
- 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
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
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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
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