Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency.
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Hereditary alpha-1-antitrypsin deficiency and its clinical consequencesSP-A binds alpha1-antitrypsin in vitro and reduces the association rate constant for neutrophil elastase.Three new alpha1-antitrypsin deficiency variants help to define a C-terminal region regulating conformational change and polymerization.Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesisItalian registry of patients with alpha-1 antitrypsin deficiency: general data and quality of life evaluation.Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.The selective advantage of alpha1-antitrypsin deficiency.Circulating alpha1-antitrypsin in the general population: determinants and association with lung function.Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015.Alpha1-antitrypsin deficiency: current perspective on research, diagnosis, and management.Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report.Genetic predisposition in NAFLD and NASH: impact on severity of liver disease and response to treatment.The effect of α1-antitrypsin deficiency combined with increased bacterial loads on chronic obstructive pulmonary disease pharmacotherapy: A prospective, parallel, controlled pilot studyApplication of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach.Molecular diagnostics of α1-antitrypsin deficiency.Recent advances in α-1-antitrypsin deficiency-related lung disease.PCR-based screening for the most prevalent alpha 1 antitrypsin deficiency mutations (PI S, Z, and Mmalton) in COPD patients from Eastern Tunisia.Can we change a genetically determined future?Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency; Comparison of the Characteristics of PISZ and PIZZ Individuals.The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin deficiency in Ireland: exploiting a national registry to understand a rare disease.A novel alpha1-antitrypsin null variant (PiQ0Milano ).Epidemiology of Rare Lung Diseases: The Challenges and Opportunities to Improve Research and Knowledge.Rapid detection of Mmalton α1-antitrypsin deficiency allele by real-time PCR and melting curves in whole blood, serum and dried blood spot samples.Frequency of Rare Alpha-1 Antitrypsin Variants in Polish Patients with Chronic Respiratory Disorders.Population genetic screening for alpha1-antitrypsin deficiency in a high-prevalence area.Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency.Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression.Rare alpha-1-antitrypsin variants: are they really so rare?Real world evaluation of a novel lateral flow assay (AlphaKit® QuickScreen) for the detection of alpha-1-antitrypsin deficiency
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P2860
Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Prevalence and phenotype of su ...... alpha1-antitrypsin deficiency.
@en
Prevalence and phenotype of su ...... alpha1-antitrypsin deficiency.
@nl
type
label
Prevalence and phenotype of su ...... alpha1-antitrypsin deficiency.
@en
Prevalence and phenotype of su ...... alpha1-antitrypsin deficiency.
@nl
prefLabel
Prevalence and phenotype of su ...... alpha1-antitrypsin deficiency.
@en
Prevalence and phenotype of su ...... alpha1-antitrypsin deficiency.
@nl
P2093
P50
P356
P1476
Prevalence and phenotype of su ...... alpha1-antitrypsin deficiency.
@en
P2093
Baccheschi J
Ferrarotti I
Luisetti M
P304
P356
10.1136/JMG.2004.023903
P407
P577
2005-03-01T00:00:00Z