Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis.

Respiratory research - 10 Jun 2022

Lopez-Campos José Luis, Osaba Lourdes, Czischke Karen, Jardim José R, Fernandez Acquier Mariano, Ali Abraham, Günen Hakan, Rapun Noelia, Drobnic Estrella, Miravitlles Marc

Abstract excerpt

INTRODUCTION: Currently, strategies for improving alpha1 antitrypsin deficiency (AATD) diagnosis are needed. Here we report the performance of a multinational multiplex-based genotyping test on dried blood spots and buccal swabs sent by post or courier and with web registration for subjects with suspected AATD in Argentina, Brazil, Chile, Colombia, Spain, and Turkey. METHODS: This was an observational,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to alpha 1-Antitrypsin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to alpha 1-Antitrypsin Deficiency

Share to Cross-Sectional Studies

Share to Feasibility Studies

Share to Genotype

Share to Pulmonary Disease, Chronic Obstructive

Source

Open in PubMed Open full text

Identifiers

PMID: 35689213
DOI: 10.1186/s12931-022-02074-x
PMCID: PMC9184812

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis.PMID 35689213Read ↗

Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil.Semantic proximity Read ↗

Results of a Diagnostic Procedure Based on Multiplex Technology on Dried Blood Spots and Buccal Swabs for Subjects With Suspected Alpha1 Antitrypsin Deficiency.Semantic proximity Read ↗

Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.Semantic proximity Read ↗

Prevalence of Alpha-1 Antitrypsin Deficiency (AATD) in a General Population of Northern Italy: A Descriptive AnalysisSemantic proximity Read ↗

Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples.Semantic proximity Read ↗

State-of-the-art testing for alpha-1 antitrypsin deficiency.Semantic proximity Read ↗

Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a Reference Laboratory.Semantic proximity Read ↗

Undetected mutations across different serum alpha1 antitrypsin thresholds: An analysis of the avatar cohort.Semantic proximity Read ↗

Laboratory Diagnosis by Genotyping.Semantic proximity Read ↗

The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes.Semantic proximity Read ↗

Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.Semantic proximity Read ↗

Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.