Tabita Maia

Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

Celeste Bento, Melanie J. Percy, Betty Gardie et al. · Human Mutation · 2013 · 125 citations · Full text

Life Sciences, Genetics, Hematology +17

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

Paola Bianchi, Elisa Fermo, Bertil Glader et al. · American Journal of Hematology · 2018 · 93 citations · Full text

Life Sciences, Biochemistry, Hematology +17

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)?)

Celeste Bento, Helena Almeida, Tabita Maia et al. · European Journal Of Haematology · 2013 · 47 citations · Full text

Medicine, Hematology, Molecular Genetics +13

Band 3 null^VIENNA, a novel homozygous <i>SLC4A1</i> p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis

Leo Kager, Lesley J. Bruce, Petra Zeitlhofer et al. · Pediatric Blood & Cancer · 2016 · 45 citations

Medicine, Genetics, Hematology +10

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

Zita Garate, Óscar Quintana-Bustamante, Ana M. Crane et al. · Stem Cell Reports · 2015 · 35 citations · Full text

Life Sciences, Cell Biology, Genetics +17