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A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry

BACKGROUND: Gaucher's and Fabry's disease are two of the most common treatable lysosomal storage diseases, and have a wide spectrum of clinical symptoms. Early detection is important, because timely initiation of treatments can improve the disease status and prevent complications. However...

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Detalles Bibliográficos
Autores principales: Van Baelen, Amber, Roosens, Laurence, Devos, Sylvie, Verhulst, Stijn, Eyskens, François
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10462886/
https://www.ncbi.nlm.nih.gov/pubmed/37649874
http://dx.doi.org/10.1016/j.ymgmr.2023.100993