Alpha-1 Antitrypsin Deficiency
Last Posted: Nov 05, 2020
- 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
- Alpha-1 Antitrypsin Deficiency: a Rare Disease?
Cortes-Lopez Roxana et al. Current allergy and asthma reports 2020 Jun 20(9) 51
- 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
- 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
- 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
- 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
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
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