Detalhe da pesquisa
1.
Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.
N Engl J Med
; 385(22): 2059-2065, 2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34818480
2.
Post-Transcriptional Genetic Silencing of BCL11A to Treat Sickle Cell Disease.
N Engl J Med
; 384(3): 205-215, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33283990
3.
Ticagrelor vs placebo for the reduction of vaso-occlusive crises in pediatric sickle cell disease: the HESTIA3 study.
Blood
; 140(13): 1470-1481, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35849650
4.
The Risk of Kidney Injury in Patients With Sickle Cell Disease Treated With Ketorolac for Acute Pain.
J Pediatr Hematol Oncol
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38691085
5.
Ketamine use for management of vaso-occlusive pain in pediatric sickle cell disease.
Pediatr Blood Cancer
; 70(5): e30254, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36861789
6.
Consensus definition of essential, optimal, and suggested components of a pediatric sickle cell disease center.
Pediatr Blood Cancer
; 70(1): e29961, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36094289
7.
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Hum Mutat
; 42(11): 1367-1383, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34298585
8.
A systematic review of ketamine for the management of vaso-occlusive pain in sickle cell disease.
Pediatr Blood Cancer
; 68(7): e28989, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33788404
9.
An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation.
J Inherit Metab Dis
; 43(4): 880-890, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32064623
10.
A Multinational Trial of Prasugrel for Sickle Cell Vaso-Occlusive Events.
N Engl J Med
; 374(7): 625-35, 2016 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26644172
11.
Clinical and laboratory outcomes following total or partial splenectomy in patients with hereditary spherocytosis.
Pediatr Hematol Oncol
; 36(6): 382-389, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31347415
12.
Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.
Hum Mutat
; 39(3): 389-393, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29288557
13.
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.
Blood
; 128(15): 1913-1917, 2016 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27488349
14.
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
Haematologica
; 103(12): 2008-2015, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30026338
15.
The effect of iron chelation therapy on overall survival in sickle cell disease and ß-thalassemia: A systematic review.
Am J Hematol
; 93(7): 943-952, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29635754
16.
Hydroxycarbamide versus chronic transfusion for maintenance of transcranial doppler flow velocities in children with sickle cell anaemia-TCD With Transfusions Changing to Hydroxyurea (TWiTCH): a multicentre, open-label, phase 3, non-inferiority trial.
Lancet
; 387(10019): 661-670, 2016 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-26670617
17.
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Blood
; 126(25): 2734-8, 2015 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26491070
18.
Ringed sideroblasts in ß-thalassemia.
Pediatr Blood Cancer
; 64(5)2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27808451
19.
Successful utilization of an electronic pain diary in a multinational phase 3 interventional study of pediatric sickle cell anemia.
Clin Trials
; 14(6): 563-571, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28743191
20.
Magnetic resonance imaging/angiography and transcranial Doppler velocities in sickle cell anemia: results from the SWiTCH trial.
Blood
; 124(6): 891-8, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24914136