Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias.
Front Physiol
; 10: 386, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31040790
14.
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
15.
Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet.
Hemasphere
; 7(3): e844, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36844183
16.
[Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency]. / Cribado neonatal de hemoglobinopatías y déficit de glucosa-6-fosfato deshidrogenasa (G6PD) en Cataluña. Estudio molecular de la anemia falciforme asociada a alfatalasemia y déficit de G6PD.
Med Clin (Barc)
; 129(5): 161-4, 2007 Jun 30.
Artigo
em Espanhol
| MEDLINE | ID: mdl-17669331
17.
Red cell pyruvate kinase deficiency in Spain: A study of 15 cases. / Déficit de piruvato cinasa eritrocitaria en España: estudio de 15 casos.
Med Clin (Barc)
; 148(1): 23-27, 2017 Jan 06.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-27871768
18.
Southeast Asian ovalocytosis detected in a critical patient with COVID-19 pneumonia.
Int J Lab Hematol
; 44(5): e215-e218, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35580896
19.
[Neonatal screening of hemoglobinopathies and glucose-6-phosphate dehydrogenase in Catalonia. Pilot study in anonymous not related population]. / Cribado neonatal de hemoglobinopatías y déficit de glucosa-6-fosfato deshidrogenasa en Cataluña. Estudio piloto en población anónima no relacionada.
Med Clin (Barc)
; 126(8): 281-5, 2006 Mar 04.
Artigo
em Espanhol
| MEDLINE | ID: mdl-16527153
20.
Red Cell Properties after Different Modes of Blood Transportation.
Front Physiol
; 7: 288, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27471472