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

Summary 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 untar...

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Bibliographic Details
Published in:	British journal of haematology Vol. 193; no. 6; pp. 1185 - 1193
Main Authors:	Dooijeweert, Birgit, Broeks, Melissa H., Beers, Eduard J., Verhoeven‐Duif, Nanda M., Solinge, Wouter W., Nieuwenhuis, Edward E. S., Jans, Judith J., Wijk, Richard, Bartels, Marije
Format:	Journal Article
Language:	English
Published:	England Blackwell Publishing Ltd 01.06.2021 John Wiley and Sons Inc
Subjects:	Anemia Blood Bone marrow Diamond Blackfan Anaemia disease fingerprint dried blood spots Genetic variability Hematology Hypoplasia Learning algorithms Machine learning machine‐learning algorithm Metabolism Metabolites Metabolomics Paediatrics Research Paper untargeted metabolomics machine-learning algorithm untargeted metabolomics Diamond Blackfan Anaemia dried blood spots disease fingerprint
ISSN:	0007-1048, 1365-2141, 1365-2141
Online Access:	Get full text
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