Detalhe da pesquisa
1.
Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.
Br J Haematol
; 202(3): 674-685, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246471
2.
Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress.
Blood Cells Mol Dis
; 97: 102690, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35871033
3.
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Haematologica
; 106(5): 1303-1310, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32241839
4.
Importance of Hepcidin in the Etiopathogenesis of Anemia in Inflammatory Bowel Disease.
Dig Dis Sci
; 66(10): 3263-3269, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33063192
5.
Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions.
Blood Cells Mol Dis
; 81: 102380, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31855845
6.
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Blood
; 131(20): 2183-2192, 2018 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29549173
7.
Severe linezolid-induced lactic acidosis in a child with acute lymphoblastic leukemia: A case report.
J Infect Chemother
; 26(12): 1316-1318, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32859497
8.
Changes in serum hepcidin levels in children with inflammatory bowel disease during anti-inflammatory treatment.
J Paediatr Child Health
; 56(2): 276-282, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31411363
9.
Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia.
Int J Mol Sci
; 21(24)2020 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33348919
10.
Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.
Blood Cells Mol Dis
; 69: 23-29, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28803808
11.
Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia.
Blood
; 128(10): 1418-23, 2016 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27389715
12.
Hepcidin in newly diagnosed inflammatory bowel disease in children.
J Paediatr Child Health
; 54(12): 1362-1367, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29923651
13.
Rare anemias from the group of congenital bone marrow failure syndromes.
Vnitr Lek
; 64(5): 488-500, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193517
14.
15.
Recommendations regarding splenectomy in hereditary hemolytic anemias.
Haematologica
; 102(8): 1304-1313, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550188
16.
Eltrombopag for children with chronic immune thrombocytopenia (PETIT2): a randomised, multicentre, placebo-controlled trial.
Lancet
; 386(10004): 1649-58, 2015 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26231455
17.
Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome.
Haematologica
; 101(6): 707-16, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27013649
18.
Molecular Characterization of ß-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations.
Hemoglobin
; 40(3): 156-62, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26956563
19.
Characterization of the severe phenotype of pyruvate kinase deficiency.
Am J Hematol
; 95(10): E281-E285, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619047
20.
Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.
Br J Haematol
; 165(4): 556-63, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24533562