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...

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Spremljeno u:
Bibliografski detalji
Izdano u:Br J Haematol
Glavni autori: 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
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2021
Teme:
Paediatrics
Online pristup: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
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