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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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Br J Haematol
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2021
Konular:
Paediatrics
Online Erişim: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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