Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia

The diagnostic evaluation of Diamond Blackfan Anaemia (DBA), an inherited bone marrow failure syndrome characterised by erythroid hypoplasia, is challenging because of a broad phenotypic variability and the lack of functional screening tests. In this study, we explored the potential of untargeted me...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Br J Haematol
Autors principals: van Dooijeweert, Birgit, Broeks, Melissa H., van Beers, Eduard J., Verhoeven‐Duif, Nanda M., van Solinge, Wouter W., Nieuwenhuis, Edward E. S., Jans, Judith J., van Wijk, Richard, Bartels, Marije
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2021
Matèries:
Paediatrics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8251760/
https://ncbi.nlm.nih.gov/pubmed/33997957
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bjh.17524
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars