Detalhe da pesquisa
1.
Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.
Br J Haematol
; 204(5): 2040-2048, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38415930
2.
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
Br J Haematol
; 200(2): 249-255, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36177683
3.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Haematologica
; 108(6): 1652-1666, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36700397
4.
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Haematologica
; 108(11): 3068-3085, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317877
5.
A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.
Am J Hematol
; 98(12): 1877-1887, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37671681
6.
Red blood cell phenotyping from 3D confocal images using artificial neural networks.
PLoS Comput Biol
; 17(5): e1008934, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33983926
7.
Proton pump inhibition for secondary hemochromatosis in hereditary anemia: a phase III placebo-controlled randomized cross-over clinical trial.
Am J Hematol
; 97(7): 924-932, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35472008
8.
Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia.
Br J Haematol
; 193(6): 1185-1193, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33997957
9.
Comparisons of oxygen gradient ektacytometry parameters between sickle cell patients with or without α-thalassaemia.
Br J Haematol
; 195(4): 629-633, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34396507
10.
Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency.
Haematologica
; 106(10): 2720-2725, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33054133
11.
AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes.
Haematologica
; 106(1): 238-249, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31974203
12.
Recommendations for diagnosis and treatment of methemoglobinemia.
Am J Hematol
; 96(12): 1666-1678, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34467556
13.
Infantile Pyknocytosis in a Premature Dichorionic Diamniotic Twin.
J Pediatr Hematol Oncol
; 43(7): e1037-e1039, 2021 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33235153
14.
The Interplay between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance.
Int J Mol Sci
; 22(4)2021 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33672223
15.
Mechanical Stress Induces Ca2+-Dependent Signal Transduction in Erythroblasts and Modulates Erythropoiesis.
Int J Mol Sci
; 22(2)2021 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33478008
16.
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood
; 132(5): 469-483, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891534
17.
The variable manifestations of disease in pyruvate kinase deficiency and their management.
Haematologica
; 105(9): 2229-2239, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33054048
18.
Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis.
Haematologica
; 105(2): 338-347, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147440
19.
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Am J Hematol
; 95(5): 472-482, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043619
20.
Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene.
J Pediatr Hematol Oncol
; 42(7): e696-e697, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31415279