Alpha-1 Antitrypsin Deficiency
Last Posted: Mar 05, 2020
- 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
- A quantitative approach for the analysis of clinician recognition of acute respiratory distress syndrome using electronic health record data.
Bechel Meagan A et al. PloS one 2019 14(9) e0222826
- 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
- The location of exon 4 mutations in RP1 raises challenges for genetic counselling and gene therapy.
Nanda A et al. American journal of ophthalmology 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
- 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
- Huge genetic-screening effort helps pinpoint roots of breast cancer
Scientists have sifted through thousands of genetic sequences in search of those that could foster tumours.
H Ledford, Nature, September 12, 2018
- Coping Mechanisms, Psychological Distress, and Quality of Life Prior to Cancer Genetic Counseling.
Di Mattei Valentina E et al. Frontiers in psychology 2018 91218
- CLINGEN Actionability Report for Alpha-1 Antitrypsin Deficiency - SERPINA1
ClinGen Actionability Working Group
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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