Ribeiro, M. L.
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Credit Name
Ribeiro, M. L.
Name
Ribeiro, Letícia
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Ribeiro, L.
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Status
UC Researcher
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Results 1-12 of 12 (Search time: 0.006 seconds).
| Issue Date | Title | Author(s) | Type | Access | |
|---|---|---|---|---|---|
| 1 | 2016 | Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency | Pereira, Janet ; Bento, Celeste ; Manco, Licinio ; Gonzalez, Ataulfo ; Vagace, Jose ; Ribeiro, Maria Letícia | article | openAccess |
| 2 | 28-Feb-2003 | A deficiência em piruvato-quinase (PK) na população portuguesa : estudos de genética molecular e populacional | Manco, Licínio Manuel Mendes | doctoralThesis | embargoedAccess |
| 3 | 2016 | Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing | Del Orbe Barreto, R. ; Arrizabalaga, B. ; De la Hoz, A. B. ; García-Orad, Á. ; Tejada, M. I. ; Garcia-Ruiz, J. C. ; Fidalgo, T. ; Bento, C. ; Manco, L. ; Ribeiro, M. L. | article | openAccess |
| 4 | 2015 | Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study | Fidalgo, Teresa ; Martinho, Patrícia ; Salvado, Ramon ; Manco, Licínio ; Oliveira, Ana C. ; Pinto, Catarina S. ; Gonçalves, Elsa ; Marques, Dalila ; Sevivas, Teresa ; Martins, Natália ; Ribeiro, Maria Letícia | article | openAccess |
| 5 | 2016 | Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study | Manco, Licínio ; Bento, Celeste ; Victor, Bruno L. ; Pereira, Janet ; Relvas, Luís ; Brito, Rui M. ; Seabra, Carlos ; Maia, Tabita M. ; Ribeiro, M. Letícia | article | openAccess |
| 6 | Jun-2015 | Intragenic haplotype analysis of common HFE mutations in the Portuguese population | Toste, Sandra ; Relvas, Luís ; Pinto, Catarina ; Bento, Celeste ; Abade, Augusto ; Ribeiro, M. Letícia ; Manco, Licínio | article | embargoedAccess |
| 7 | 2006 | Molecular characterization of five Portuguese patients with pyrimidine 5’-nucleotidase deficient hemolytic anemia showing three new P5’N-I mutations | Manco, Licínio ; Relvas, Luís ; Pinto, C. Silva ; Pereira, Janet ; Almeida, A. Bessa ; Ribeiro, M. Letícia | article | openAccess |
| 8 | 2007 | Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles | Manco, Licínio ; Gonçalves, Paula ; Antunes, Patrícia ; Maduro, Filomena ; Abade, Augusto ; Ribeiro, M. Letícia | article | openAccess |
| 9 | 2015 | Polymorphic variations influencing fetal hemoglobin levels: Association study in beta-thalassemia carriers and in normal individuals of Portuguese origin | Pereira, Clara ; Relvas, Luís ; Bento, Celeste ; Abade, Augusto ; Ribeiro, M. Letícia ; Manco, Licínio | article | openAccess |
| 10 | 2012 | Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria | Machado, Patrícia ; Manco, Licínio ; Gomes, Cláudia; Mendes, Cristina ; Fernandes, Natércia; Salomé, Graça; Sitoe, Luis; Chibute, Sérgio; Langa, José; Ribeiro, Letícia ; Miranda, Juliana ; Cano, Jorge ; Pinto, João; Amorim, António ; do Rosário, Virgílio E; Arez, Ana Paula | article | openAccess |
| 11 | 2016 | Severe neonatal jaundice due to ade novoglucose-6-phosphate dehydrogenase deficient mutation | Del Orbe Barreto, R. ; Arrizabalaga, B. ; de la Hoz, A. B ; Aragües, P. ; Garcia-Ruiz, J. C. ; Arrieta, A. ; Adán, R. ; Manco, L. ; Macedo-Ribeiro, S. ; Bento, C. ; Ribeiro, M. L. | article | openAccess |
| 12 | 2005 | Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis | Manco, Licínio ; Gonçalves, Paula ; Macedo-Ribeiro, Sandra ; Seabra, Carlos ; Melo, Paula ; Ribeiro, Maria Letícia | article | openAccess |