Detalhe da pesquisa
1.
Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia.
Br J Haematol
; 193(6): 1185-1193, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33997957
2.
Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency.
Haematologica
; 106(10): 2720-2725, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33054133
3.
The Interplay between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance.
Int J Mol Sci
; 22(4)2021 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33672223
4.
Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.
Eur J Haematol
; 100(2): 163-170, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29114930
5.
GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.
Genes (Basel)
; 13(3)2022 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35328001
6.
Transfusion burden in early childhood plays an important role in iron overload in Diamond-Blackfan anaemia.
EJHaem
; 3(4): 1300-1304, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36467824
7.
[A toddler with status dystonicus due to medication]. / Een peuter met een status dystonicus door medicatie.
Ned Tijdschr Geneeskd
; 1652021 06 08.
Artigo
em Holandês
| MEDLINE | ID: mdl-34346598
8.
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.
Eur J Med Genet
; 61(11): 664-673, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29081386
9.
The postgraduate medical education pathway: an international comparison.
GMS J Med Educ
; 34(5): Doc63, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29226231
10.
Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity.
Hemasphere
; 5(7): e591, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34131631