Detalhe da pesquisa
1.
Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.
Pediatr Blood Cancer
; 64(3)2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27718309
2.
Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study.
Blood Cells Mol Dis
; 60: 18-23, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519939
3.
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
Eur J Haematol
; 91(4): 361-8, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23859443
4.
ß Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent.
Haematologica
; 98(1): e4-6, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22875618
5.
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
; 5(6): 1053-1066, 2015 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26549847