Detalhe da pesquisa
1.
Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.
Blood
; 139(16): 2534-2546, 2022 04 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35030251
2.
Neutral-Coating Capillary Electrophoresis Coupled with High-Resolution Mass Spectrometry for Top-Down Identification of Hemoglobin Variants.
Clin Chem
; 69(1): 56-67, 2023 01 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36308334
3.
The active component of ginseng, ginsenoside Rb1, improves erythropoiesis in models of Diamond-Blackfan anemia by targeting Nemo-like kinase.
J Biol Chem
; 297(3): 100988, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34298020
4.
Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency.
N Engl J Med
; 381(10): 933-944, 2019 09 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31483964
5.
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
Inglês
| MEDLINE | ID: mdl-34298585
6.
The Genetic Landscape of Diamond-Blackfan Anemia.
Am J Hum Genet
; 103(6): 930-947, 2018 12 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30503522
7.
The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency.
Br J Haematol
; 192(6): 1092-1096, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32463523
8.
Comorbidities and complications in adults with pyruvate kinase deficiency.
Eur J Haematol
; 106(4): 484-492, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33370479
9.
Pyruvate kinase deficiency in children.
Pediatr Blood Cancer
; 68(9): e29148, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34125488
10.
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Blood
; 131(20): 2183-2192, 2018 05 17.
Artigo
Inglês
| MEDLINE | ID: mdl-29549173
11.
The variable manifestations of disease in pyruvate kinase deficiency and their management.
Haematologica
; 105(9): 2229-2239, 2020 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33054048
12.
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Am J Hematol
; 95(5): 472-482, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32043619
13.
L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry.
Pediatr Blood Cancer
; 67(12): e28748, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33025707
14.
Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study.
Haematologica
; 104(10): 1974-1983, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30948484
15.
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
Inglês
| MEDLINE | ID: mdl-30358897
16.
Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation.
Pediatr Blood Cancer
; 65(9): e27220, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29749692
17.
The Genetic Landscape of Diamond-Blackfan Anemia.
Am J Hum Genet
; 104(2): 356, 2019 Feb 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30735661
18.
Loss of Forkhead box M1 promotes erythropoiesis through increased proliferation of erythroid progenitors.
Haematologica
; 102(5): 826-834, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28154085
19.
Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD.
Am J Hematol
; 97(3): E120-E125, 2022 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34989415
20.
TNF-mediated inflammation represses GATA1 and activates p38 MAP kinase in RPS19-deficient hematopoietic progenitors.
Blood
; 124(25): 3791-8, 2014 Dec 11.
Artigo
Inglês
| MEDLINE | ID: mdl-25270909