Tabita M. Maia

Coimbra, 3000602, Portugal

Last Updated: 09/26/2026

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Found 15 publications

Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.

Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.

Journal: International journal of neonatal screening

Published: January 08, 2025

Association study of common KLF1 variants with Hb F and Hb A2 levels in β-thalassaemia carriers of Portuguese ancestry.

Association study of common KLF1 variants with Hb F and Hb A2 levels in β-thalassaemia carriers of Portuguese ancestry.

Journal: Journal of genetics

Published: October 24, 2024

Hb F Levels in β-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the β-Globin Gene Cluster.

Hb F Levels in β-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the β-Globin Gene Cluster.

Journal: Hemoglobin

Published: May 31, 2022

Variants in the new E1' cryptic exon of the VHL gene associated with congenital erythrocytosis-Description of three cases.

Variants in the new E1' cryptic exon of the VHL gene associated with congenital erythrocytosis-Description of three cases.

Journal: EJHaem

Published: February 18, 2022

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

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

Journal: Acta medica portuguesa

Published: November 26, 2021

Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers.

Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers.

Journal: Hemoglobin

Published: April 23, 2020

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.

Journal: American journal of hematology

Published: July 19, 2018

Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.

Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.

Journal: Research and practice in thrombosis and haemostasis

Published: March 01, 2017

Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.

Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.

Journal: Pediatric blood & cancer

Published: May 18, 2016

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study.

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study.

Journal: Blood cells, molecules & diseases

Published: March 30, 2016

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Journal: Stem cell reports

Published: February 06, 2015

Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

Journal: European journal of haematology

Published: July 14, 2013

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Last Updated: 09/26/2026