Detalhe da pesquisa
1.
Rasburicase-induced Methemoglobinemia: A Case Report and Literature Review.
J Pediatr Hematol Oncol
; 43(6): e886-e890, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33122582
2.
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
3.
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
4.
A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia.
Clin Lab
; 59(3-4): 421-4, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23724634
5.
Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency.
Sci Rep
; 13(1): 4395, 2023 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36927785
6.
A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.
Mol Genet Metab
; 106(4): 455-61, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22705348
7.
Pyruvate Kinase Deficiency: Current Challenges and Future Prospects.
J Blood Med
; 13: 461-471, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36072510
8.
Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis.
Front Physiol
; 13: 949044, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36035481
9.
Case report: Transfusion independence and abolition of extravascular hemolysis in a PNH patient treated with pegcetacoplan.
Front Immunol
; 13: 1060923, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36532073
10.
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Front Physiol
; 12: 684569, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34093240
11.
CDAII presenting as hydrops foetalis: molecular characterization of two cases.
Blood Cells Mol Dis
; 45(1): 20-2, 2010 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20381388
12.
Congenital Hemolytic Anemias: Is There a Role for the Immune System?
Front Immunol
; 11: 1309, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32655575
13.
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.
Hum Mutat
; 30(9): 1292-8, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19621418
14.
Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases.
Front Physiol
; 10: 467, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31133865
15.
Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.
Blood Cells Mol Dis
; 41(1): 50-5, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18343696
16.
Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect.
Haematologica
; 93(9): 1310-7, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18641031
17.
Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families.
Case Rep Hematol
; 2017: 2769570, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28367341
18.
'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation.
Sci Rep
; 7(1): 1744, 2017 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28496185
19.
Gardos channelopathy: functional analysis of a novel KCNN4 variant.
Blood Adv
; 4(24): 6336-6341, 2020 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33351129
20.
A case of congenital red cell pyruvate kinase deficiency associated with hereditary stomatocytosis.
Blood Cells Mol Dis
; 41(3): 261-2, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18708292