e-learning
resources
Barcelona 2010
Sunday, 19.09.2010
Genetics of obstruction
Login
Search all ERS
e-learning
resources
Disease Areas
Airways Diseases
Interstitial Lung Diseases
Respiratory Critical Care
Respiratory Infections
Paediatric Respiratory Diseases
Pulmonary Vascular Diseases
Sleep and Breathing Disorders
Thoracic Oncology
Events
International Congress
Courses
Webinars
Conferences
Research Seminars
Journal Clubs
Publications
Breathe
Monograph
ERJ
ERJ Open Research
ERR
European Lung White Book
Handbook Series
Guidelines
All ERS guidelines
e-learning
CME Online
Case reports
Short Videos
SpirXpert
Procedure Videos
CME tests
Reference Database of Respiratory Sounds
Radiology Image Challenge
Brief tobacco interventions
EU Projects
VALUE-Dx
ERN-LUNG
ECRAID
UNITE4TB
Disease Areas
Events
Publications
Guidelines
e-learning
EU Projects
Login
Search
Severe alpha-1-antitrypsin deficiency (A1ATD) caused by Q0
Ourém
mutation: A clinical characterization
L. Vaz-Rodrigues, F. Costa, S. Seixas, J. Rocha, C. Mendonça (Coimbra, Portugal)
Source:
Annual Congress 2010 - Genetics of obstruction
Session:
Genetics of obstruction
Session type:
Thematic Poster Session
Number:
1570
Disease area:
Airway diseases
Rating:
You must
login
to grade this presentation.
Share or cite this content
Citations should be made in the following way:
L. Vaz-Rodrigues, F. Costa, S. Seixas, J. Rocha, C. Mendonça (Coimbra, Portugal). Severe alpha-1-antitrypsin deficiency (A1ATD) caused by Q0
Ourém
mutation: A clinical characterization. Eur Respir J 2010; 36: Suppl. 54, 1570
You must
login
to share this Presentation/Article on Twitter, Facebook, LinkedIn or by email.
Member's Comments
No comment yet.
You must
Login
to comment this presentation.
Related content which might interest you:
Observational cohort study of pulmonary exacerbations in alpha-1 antitrypsin deficiency
Imaging of complicated pneumonia: what is new?
Panel discussion on ERS Statement – A core outcome set for clinical trials evaluating the management of COPD exacerbations
Related content which might interest you:
Tracing down the evolutionary history of Q0
Ourém
, a rare allele associated with severe alpha-1-antitrypsin deficiency (AATD)
Source: Annual Congress 2009 - What is new in molecular pathology and functional genomics of neoplastic and non-neoplastic lung disease?
Year: 2009
Prevalence of alpha-1-antitrypsin deficiency (A1AD) in patients with COPD.
Source: Virtual Congress 2021 – COPD burden, epidemiology and management
Year: 2021
Mortality in individuals with severe alpha-1-antitrypsin deficiency (PiZZ)
Source: Eur Respir J 2006; 28: Suppl. 50, 144s
Year: 2006
Aα360: A measure of disease and treatment efficacy in alpha-1-antitrypsin (A1AT) deficiency
Source: Annual Congress 2010 - COPD: phenotyping and monitoring
Year: 2010
Erythrocyte abnormalities in alpha-1-antitrypsin deficiency (AATD) patients
Source: Annual Congress 2009 - COPD: exacerbation and clinical problems
Year: 2009
Characterization of a population of alpha
1
-antitrypsin deficient (A
1
ATD) patients
Source: Annual Congress 2008 - COPD
Year: 2008
Incidence of alpha-1-antitrypsin (α1-AT) deficiency in patients with COPD in Poland, preliminary report
Source: Eur Respir J 2005; 26: Suppl. 49, 440s
Year: 2005
Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe dyspnea
Source: International Congress 2016 – Molecular targets in pulmonary disease
Year: 2016
A new SERPINA-1 missense mutation associated with alpha-1 antitrypsin deficiency and bronchiectasis.
Source: International Congress 2017 – Current molecular and genetic understanding of lung diseases
Year: 2017
Prevalence and phenotype of subjects carrying rare variants in Argentina for alpha1-antitrypsin deficiency
Source: International Congress 2017 – Current molecular and genetic understanding of lung diseases
Year: 2017
Rare SERPINA1 allele Mwhitstable in patients with Alpha1-antitrypsin deficiency
Source: International Congress 2019 – New molecular signatures in COPD, lung cancer and a1-antitrypsin deficiency
Year: 2019
Young adult with inherited PiMZ alpha-1-antitrypsin deficiency (A1ATD)-related bronchiectasis: characteristic of blood neutrophils and A1AT protein
Source: International Congress 2016 – Translational studies in lung disease
Year: 2016
The incidence of alpha-1-antitrypsin (A1AT) deficiency alleles in Polish population – Preliminary results from newborn screening
Source: Annual Congress 2012 - Recent progress in mechanisms and diagnostics of COPD and asthma
Year: 2012
Mortality of patients with emphysema and alpha-1-antitrypsin deficiency of Pi Z phenotype
Source: Eur Respir J 2001; 18: Suppl. 33, 25s
Year: 2001
Health status changes in alpha-1-antitrypsin deficiency (PiZ phenotype) over 3 years
Source: Annual Congress 2003 - Alpha-1 antitrypsin deficiency and COPD
Year: 2003
MiR-320c regulates SERPINA1 expression and is associated with pulmonary disease in alpha-1-antitrypsin deficiency
Source: International Congress 2016 – How the understanding og molecular and genomic crosstalk is helping to diagnose lung disease
Year: 2016
a
1
-antitrypsin PI*SZ genotype: a SERPINA1 deficiency haplotype with uncertain clinical and therapeutic implications
Source: Eur Respir J, 55 (6) 2000713; 10.1183/13993003.00713-2020
Year: 2020
Investigating change in the COPD assessment test (CAT) within α-1 antitrypsin deficiency (A1ATD)
Source: Annual Congress 2011 - Phenotyping and monitoring of airway diseases
Year: 2011
Role of bronchiectasis in alpha1-antitrypsin deficiency patients: a comparative analysis
Source: International Congress 2019 – Chronic cough, a1-antitrypsin deficiency and other conditions
Year: 2019
We use cookies on our website to give you the most relevant experience by remembering your preferences and repeat visits. By clicking "Accept", you consent to the use of the cookies.
Accept