Detalhe da pesquisa
1.
Haemoglobinopathies and other rare anemias in Spain: ten years of a nationwide registry (REHem-AR).
Ann Hematol
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38763941
2.
Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis.
Haematologica
; 105(2): 338-347, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147440
3.
The variable manifestations of disease in pyruvate kinase deficiency and their management.
Haematologica
; 105(9): 2229-2239, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33054048
4.
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
em Inglês
| MEDLINE | ID: mdl-30358897
5.
The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper.
Br J Haematol
; 198(3): 459-477, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35661144
6.
Heterogeneity of G6PD deficiency prevalence in Mozambique: a school-based cross-sectional survey in three different regions.
Malar J
; 16(1): 36, 2017 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28103889
7.
Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency.
Mol Ther
; 24(7): 1187-98, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27138040
8.
The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies.
Am J Hematol
; 96(11): E416-E420, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34406671
9.
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.
Lancet Haematol
; 11(3): e228-e239, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38330977
10.
Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience.
Orphanet J Rare Dis
; 18(1): 341, 2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37908000
11.
Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective.
Lancet Haematol
; 10(8): e687-e694, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451300
12.
Low affinity hemoglobinopathy (Hb Vigo) due to a new mutation of beta globin gene (c200 A>T; Lys>Ile). A cause of rare anemia misdiagnosis.
Am J Hematol
; 92(4): E38-E40, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28066926
13.
Combining microfluidics with machine learning algorithms for RBC classification in rare hereditary hemolytic anemia.
Sci Rep
; 11(1): 13553, 2021 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34193899
14.
Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases.
Front Physiol
; 12: 628236, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33613322
15.
Pathophysiology of Anemia in HIV-Infected Children Exposed to Malaria.
Am J Trop Med Hyg
; 104(3): 1003-1012, 2021 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33534758
16.
Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.
Am J Hematol
; 90(12): E217-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26315463
17.
Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases - Is It Time to Update the EU's Orphan Regulation? And if so, What Should be Changed?
Biomed Hub
; 5(2): 1-11, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33564657
18.
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias.
Front Physiol
; 10: 386, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31040790
19.
[Hemoglobinopathy Newcastle: use of chromatography and first case reported in Spain]. / Hemoglobinopatía Newcastle: utilidad de la cromatografía y descripción del primer caso en España.
Med Clin (Barc)
; 130(12): 455-8, 2008 Apr 05.
Artigo
em Espanhol
| MEDLINE | ID: mdl-18405501
20.
A Previously Unrecognized Ca2+-inhibited Nonselective Cation Channel in Red Blood Cells.
Hemasphere
; 2(5): e146, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30887009