Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review

BACKGROUND: Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase activity in either fresh peripheral blood leukocytes or dried blood spots, and conf...

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Detalles Bibliográficos
Autores principales: Giuffrida, Gaetano, Markovic, Uros, Condorelli, Annalisa, Calafiore, Valeria, Nicolosi, Daniela, Calagna, Marianna, Grasso, Stephanie, Ragusa, Marco Tindaro Valentino, Gentile, Jennifer, Napolitano, Mariasanta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9926807/
https://www.ncbi.nlm.nih.gov/pubmed/36782327
http://dx.doi.org/10.1186/s13023-023-02623-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9926807/
https://www.ncbi.nlm.nih.gov/pubmed/36782327
http://dx.doi.org/10.1186/s13023-023-02623-7

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