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Tabita Magalhães Maia

Observed names: Maia, Tabita, Maia, Tabita Magalhães, T. M. Maia, T. Maia, Tabita M. Maia, Tabita Maia, Tabita M. Maia
ORCID: 0009-0005-5446-7698
Observed ORCID: 0009-0005-5446-7698
OpenAlex ID: A5010980999
Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases
2013 · Celeste Bento, Melanie J. Percy, et al. · Human Mutation · 131
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Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency
2018 · Paola Bianchi, Elisa Fermo, et al. · American Journal of Hematology · 100
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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)?)
2013 · Celeste Bento, Helena Almeida, et al. · European Journal Of Haematology · 50
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Band 3 nullVIENNA, a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis
2016 · Leo Kager, Lesley J. Bruce, et al. · Pediatric Blood & Cancer · 35
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells
2015 · Zita Garate, Oscar Quintana-Bustamante, et al. · Stem Cell Reports · 34
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Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next‐generation sequencing
2017 · Teresa Fidalgo, Patrícia Martinho, et al. · Research and Practice in Thrombosis and Haemostasis · 24
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Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study
2016 · Licínio Manco, Celeste Bento, et al. · Blood Cells Molecules and Diseases · 21
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Transient Neonatal Cyanosis Associated With a New Hb F Variant
2013 · Celeste Bento, Tabita Magalhães Maia, et al. · Journal of Pediatric Hematology/Oncology · 16
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thalassemia major due to acquired uniparental disomy in a previously healthy adolescent
2012 · C. Bento, T. M. Maia, et al. · Haematologica · 10
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Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population
2025 · Diogo Rodrigues, Ana Marcão, et al. · International Journal of Neonatal Screening · 5
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Heterogeneidade Molecular da Deficiência em Glicose-6-Fosfato Desidrogenase (G6PD) na População Portuguesa
2022 · Licínio Manco, Celeste Bento, et al. · Acta Médica Portuguesa · 3
Hb F Levels in β-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the β-Globin Gene Cluster
2022 · Licínio Manco, Raquel Santos, et al. · Hemoglobin · 3
Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers
2020 · Licínio Manco, Celeste Bento, et al. · Hemoglobin · 3
Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias
2018 · Noemi Roy, Melanie Proven, et al. · Blood · 2
Hb Plasencia [ α 125(H8)Leu→Arg ( α 2)] is a Frequent Cause of α + -Thalassemia in the Portuguese Population
2013 · Elizabete Cunha, Celeste Bento, et al. · Hemoglobin · 2
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Variants in the new E1ʹ cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases
2022 · Catarina Dantas Rodrigues, Rita Pombal, et al. · eJHaem · 1
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Interstitial lung disease in acid sphingomyelinase deficiency type B before and after olipudase alfa enzyme replacement therapy
2026 · Maria Clara Maricoto Monteiro, Carlos Bernardo Saraiva, et al. · European Respiratory Journal
Physical impact and health-related quality of life of SCD in adults: the Real-World Portuguese ASCEND Study
2026 · Christopher J Saunders, Madalena Martins, et al. · Journal of sickle cell disease.
Association study of common KLF1 variants with Hb F and Hb A2 levels in β-thalassaemia carriers of Portuguese ancestry
2024 · Licínio Manco, Celeste Bento, et al. · Journal of Genetics
Tratamento de doenças lisossomais de sobrecarga: relatório 2022
2024 · Oliveira, Anabela, Ribeiro, Cristina, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
Tratamento de doenças lisossomais de sobrecarga: relatório 2021
2024 · Oliveira, Anabela, Ribeiro, Cristina, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
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Pb2510: Characterisation of Sickle Cell Disease Patients: a Portuguese Real-world Study (ascend)
2023 · Maria Manuel Deveza, Inês Nogueira Da Fonseca, et al. · HemaSphere
Biomarcadores nas doenças lisossomais de sobrecarga: o que são e o que nos dizem?
2020 · Paulo Gaspar, Hugo Rocha, et al. · Boletim Epidemiológico Observações
Tratamento de doenças lisossomais de sobrecarga: relatório 2019
2020 · Teles, Elisa Leão, Pereira, Carla, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
Comissão Coordenadora do Tratamento das Doenças Lisossomais de Sobrecarga − Relatório de actividades 2018
2020 · Elisa Leão Teles, Anabela Salgueiro‐Oliveira, et al.
Works count: 33
Citation count: 440
H-index: 9
I10-index: 9
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