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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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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Paediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8251760/ https://www.ncbi.nlm.nih.gov/pubmed/33997957 http://dx.doi.org/10.1111/bjh.17524

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