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1.
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
Br J Haematol
; 200(2): 249-255, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36177683
2.
A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.
Am J Hematol
; 98(12): 1877-1887, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37671681
3.
AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes.
Haematologica
; 106(1): 238-249, 2021 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31974203
4.
Rapid and reproducible characterization of sickling during automated deoxygenation in sickle cell disease patients.
Am J Hematol
; 94(5): 575-584, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30784099
5.
Decreased activity and stability of pyruvate kinase in sickle cell disease: a novel target for mitapivat therapy.
Blood
; 137(21): 2997-3001, 2021 05 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-33690814
6.
Safety and efficacy of mitapivat, an oral pyruvate kinase activator, in sickle cell disease: A phase 2, open-label study.
Am J Hematol
; 97(7): E226-E229, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35384026
7.
Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway.
PLoS Genet
; 10(5): e1004371, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24875531
8.
Oxygen gradient ektacytometry-derived biomarkers are associated with vaso-occlusive crises and correlate with treatment response in sickle cell disease.
Am J Hematol
; 96(1): E29-E32, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33095451
9.
Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.
Hum Mutat
; 36(11): 1039-42, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26224408
10.
Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis.
Am J Hematol
; 90(3): E35-9, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25388786
11.
Methodological aspects of the oxygenscan in sickle cell disease: A need for standardization.
Am J Hematol
; 95(1): E5-E8, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31591742
12.
Oxygen gradient ektacytometry-derived biomarkers are associated with acute complications in sickle cell disease.
Blood Adv
; 8(2): 276-286, 2024 01 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-37976458
13.
A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease.
EJHaem
; 5(1): 21-32, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38406513
14.
In-vitro and in-silico evidence for oxidative stress as drivers for RDW.
Sci Rep
; 13(1): 9223, 2023 06 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37286717
15.
One-year safety and efficacy of mitapivat in sickle cell disease: follow-up results of a phase 2, open-label study.
Blood Adv
; 7(24): 7539-7550, 2023 12 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-37934880
16.
Methodological aspects of oxygen gradient ektacytometry in sickle cell disease: Effects of sample storage on outcome parameters in distinct patient subgroups.
Clin Hemorheol Microcirc
; 77(4): 391-394, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33361587
17.
Effects of Genotypes and Treatment on Oxygenscan Parameters in Sickle Cell Disease.
Cells
; 10(4)2021 04 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33916502
18.
Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.
Hum Mutat
; 30(3): 446-53, 2009 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19085939
19.
Characterization of Sickling During Controlled Automated Deoxygenation with Oxygen Gradient Ektacytometry.
J Vis Exp
; (153)2019 11 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31762454
20.
The fluid membrane determines mechanics of erythrocyte extracellular vesicles and is softened in hereditary spherocytosis.
Nat Commun
; 9(1): 4960, 2018 11 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-30470753