Detalhe da pesquisa
1.
Glycolytic activity and in vitro effect of the pyruvate kinase activator AG-946 in red blood cells from low-risk myelodysplastic syndromes patients: A proof-of-concept study.
Am J Hematol
; 99(6): 1201-1204, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38563490
2.
The impact of COVID-19 on menstrual cycle's alterations, in relation to depression and sleep disturbances: a prospective observational study in a population of medical students.
BMC Womens Health
; 24(1): 130, 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38373995
3.
Changing trends of splenectomy in hereditary spherocytosis: The experience of a reference Centre in the last 40 years.
Br J Haematol
; 198(5): 912-915, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35277856
4.
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
5.
Recommendations for diagnosis and treatment of methemoglobinemia.
Am J Hematol
; 96(12): 1666-1678, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34467556
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.
Molecular heterogeneity of pyruvate kinase deficiency.
Haematologica
; 105(9): 2218-2228, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33054047
8.
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
9.
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
10.
Iron overload in congenital haemolytic anaemias: role of hepcidin and cytokines and predictive value of ferritin and transferrin saturation.
Br J Haematol
; 185(3): 523-531, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30828802
11.
Integrating clinical, morphological, and molecular data to assess prognosis in patients with primary myelofibrosis at diagnosis: A practical approach.
Hematol Oncol
; 37(4): 424-433, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31359447
12.
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Am J Hematol
; 94(1): 149-161, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30358897
13.
A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency.
J Pediatr Hematol Oncol
; 41(1): e1-e2, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30028822
14.
A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A Case Report.
J Pediatr Hematol Oncol
; 41(8): e484-e486, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30951028
15.
When alpha spectrin null alleles meet low expression alpha spectrin polymorphisms.
Br J Haematol
; 203(4): 684-687, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37565283
16.
Overhydrated hereditary stomatocytosis: A rare cause of familiar persistent macrocytosis due to SLC4A1 variants.
Pediatr Blood Cancer
; : e30344, 2023 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057369
17.
Severe hemolytic anemia in a newborn: Look out for rare Gardos channelopathies due to KCNN4 mutation.
Pediatr Blood Cancer
; 70(8): e30325, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37132095
18.
A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat.
J Pediatr Hematol Oncol
; 40(7): e458-e460, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29309376
19.
Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia.
J Pediatr Hematol Oncol
; 40(7): e421-e423, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29846281
20.
Adenomyosis and Endometrial Cancer: Literature Review.
Gynecol Obstet Invest
; 83(4): 313-328, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29874641