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Turkish Journal Of Medical Sciences (2023)
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Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common
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TURKISH JOURNAL OF MEDICAL SCIENCES (2022)
Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis
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RESPIRATORY RESEARCH (2022)
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Utility of routine screening for alpha-1 antitrypsin deficiency in patients with bronchiectasis
Luis Carreto et al.
THORAX (2020)
Detection of alpha-1 antitrypsin deficiency: the past, present and future
Mark Brantly et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
The Importance of Reference Centers and Registries for Rare Diseases: The Example of Alpha-1 Antitrypsin Deficiency
Marc Miravitlles et al.
COPD-JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE (2020)
The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency: The Association Between Diagnostic Delay and Worsened Clinical Status
Vickram Tejwani et al.
RESPIRATORY CARE (2019)
Alpha-1-Antitrypsin Deficiency Liver Disease
Dhiren Patel et al.
CLINICS IN LIVER DISEASE (2018)
Real world evaluation of a novel lateral flow assay (AlphaKit® QuickScreen) for the detection of alpha-1-antitrypsin deficiency
Timm Greulich et al.
RESPIRATORY RESEARCH (2018)
Barriers to healthcare among Muslim women: A narrative review of the literature
Sean Tackett et al.
WOMENS STUDIES INTERNATIONAL FORUM (2018)
European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency
Marc Miravitlles et al.
EUROPEAN RESPIRATORY JOURNAL (2017)
Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal
Deolinda Silva et al.
RESPIRATORY MEDICINE (2016)
The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult
Robert A. Sandhaus et al.
CHRONIC OBSTRUCTIVE PULMONARY DISEASES-JOURNAL OF THE COPD FOUNDATION (2016)
Indications for Active Case Searches and Intravenous Alpha-1 Antitrypsin Treatment for Patients With Alpha-1 Antitrypsin Deficiency Chronic Pulmonary Obstructive Disease: An Update
Francisco Casas et al.
ARCHIVOS DE BRONCONEUMOLOGIA (2015)
Indications for Active Case Searches and Intravenous Alpha-1 Antitrypsin Treatment for Patients With Alpha-1 Antitrypsin Deficiency Chronic Pulmonary Obstructive Disease: An Update
Francisco Casas et al.
ARCHIVOS DE BRONCONEUMOLOGIA (2015)
Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland
Jan Haggblom et al.
EUROPEAN CLINICAL RESPIRATORY JOURNAL (2015)
Role of alpha-1 antitrypsin in human health and disease
F. de Serres et al.
JOURNAL OF INTERNAL MEDICINE (2014)
PCR-Based Screening for the Most Prevalent Alpha 1 Antitrypsin Deficiency Mutations (PI S, Z, and Mmalton) in COPD Patients from Eastern Tunisia
Sabri Denden et al.
BIOCHEMICAL GENETICS (2013)
Serum levels and genotype distribution of α1-antitrypsin in the general population
Ilaria Ferrarotti et al.
THORAX (2012)
Rare alpha-1-antitrypsin variants: are they really so rare?
Francisco Rodriguez-Frias et al.
THERAPEUTIC ADVANCES IN RESPIRATORY DISEASE (2012)
Ethnic differences in alpha-1 antitrypsin deficiency in the United States of America
Frederick J. de Serres et al.
Therapeutic Advances in Respiratory Disease (2010)
Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report
Sabri Denden et al.
ORPHANET JOURNAL OF RARE DISEASES (2009)
SERPINA1 gene variants in individuals from the general population with reduced α1-antitrypsin concentrations
Michele Zorzetto et al.
CLINICAL CHEMISTRY (2008)
The prevalence of alpha1-antitrypsin deficiency in a representative population sample from Poland
Marcin P. Kaczor et al.
RESPIRATORY MEDICINE (2007)
Laboratory diagnosis of alpha1-antitrypsin deficiency
Ilaria Ferrarotti et al.
TRANSLATIONAL RESEARCH (2007)
Estimated numbers and prevalence of Pl*S and Pl*Z deficiency alleles of α1-antitrypsin deficiency in Asia
F. J. de Serres et al.
EUROPEAN RESPIRATORY JOURNAL (2006)
Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha-antitrypsin deficiency in European countries
I Blanco et al.
EUROPEAN RESPIRATORY JOURNAL (2006)
Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency
I Ferrarotti et al.
JOURNAL OF MEDICAL GENETICS (2005)
American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2003)
Occupational exposure risks in individuals with PI*Z α1-antitrypsin deficiency
AS Mayer et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2000)
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