Alpha-1 Antitrypsin Deficiency
Last Posted: Oct 10, 2019
- 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
- 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
- Portuguese consensus document for the management of alpha-1-antitrypsin deficiency.
Lopes A P et al. Pulmonology 2018 Dec 24 Suppl 11-21
- Alpha1-Antitrypsin Deficiency: Transition of Care for the Child With AAT Deficiency into Adulthood.
Lin Henry C et al. Current pediatric reviews 2018 Nov
- 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
- Retrospective analysis of children with α-1 antitrypsin deficiency.
Comba Atakan et al. European journal of gastroenterology & hepatology 2018 30(7) 774-778
- Alpha1-Antitrypsin Deficiency as an Incidental Finding in Clinical Genetic Testing.
Hersh Craig P et al. American journal of respiratory and critical care medicine 2018 Oct
- CLINGEN Actionability Report for Alpha-1 Antitrypsin Deficiency - SERPINA1
ClinGen Actionability Working Group
- Advances in managing COPD related to α 1 -antitrypsin deficiency, an under-recognized genetic disorder.
Craig Timothy J et al. Allergy 2018 Jul
- Alpha-1-Antitrypsin Deficiency: Disease Management and Learning from Studies.
Greulich Timm et al. COPD 2017 Mar 14(sup1) S8-S11
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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