Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency

The diagnostic evaluation and clinical characterization of rare hereditary anemia (RHA) is to date still challenging. In particular, there is little knowledge of the broad metabolic impact of many of the molecular defects underlying RHA. In this study we explored the potential of untargeted metabolo...

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Detalles Bibliográficos
Autores principales: van Dooijeweert, Birgit, Broeks, Melissa H., Verhoeven-Duif, Nanda M., van Beers, Eduard J., Nieuwenhuis, Edward E.S., van Solinge, Wouter W., Bartels, Marije, Jans, Judith J.M., van Wijk, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8485668/
https://www.ncbi.nlm.nih.gov/pubmed/33054133
http://dx.doi.org/10.3324/haematol.2020.266957

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8485668/
https://www.ncbi.nlm.nih.gov/pubmed/33054133
http://dx.doi.org/10.3324/haematol.2020.266957

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