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

Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population.

Acta medica portuguesa - 1 Feb 2023

Manco Licínio, Bento Celeste, Relvas Luís, Maia Tabita, Ribeiro Maria Letícia

Abstract excerpt

INTRODUCTION: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme defect in the world, affecting more than 500 million people. In Portugal, the average frequency of G6PD deficiency in males was estimated at about 0.5% and since the year 2000 several G6PD-deficient alleles have been identified. The main goal of this study was to improve the knowledge on the molecular heterogeneity of G6PD...

Read the complete abstract on PubMed

Topics

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

Share to Glucosephosphate Dehydrogenase
Share to Glucosephosphate Dehydrogenase Deficiency

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Portugal

Source

Identifiers

PMID: 36150187
DOI: 10.20344/amp.17584

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population.PMID 36150187Read ↗

Glucose-6-phosphate dehydrogenase deficiency in Portugal: biochemical and mutational profiles, heterogeneity, and haplotype association.Semantic proximity Read ↗

Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy.Semantic proximity Read ↗

Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants.Semantic proximity Read ↗

Molecular heterogeneity of G6PD deficiency in an Amazonian population and description of four new variants.Semantic proximity Read ↗

Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD Mediterranean.Semantic proximity Read ↗

Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene.Semantic proximity Read ↗

An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population.Semantic proximity Read ↗

G6PD Potenza: A Novel Pathogenic Variant Broadens the Mutational Landscape in the Italian PopulationSemantic proximity Read ↗

Prevalence and spectrum of mutations causing G6PD deficiency in Indian populations.Semantic proximity Read ↗

Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Mexico: overall results of a 7-year project.Semantic proximity Read ↗

G6PD Potenza: A Novel Pathogenic Variant Broadening the Mutational Landscape in the Italian Population.Semantic proximity Read ↗

Glucose-6-phosphate dehydrogenase deficiency: a historical perspectiveSemantic proximity Read ↗

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