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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...
Autores principales: | Giuffrida, Gaetano, Markovic, Uros, Condorelli, Annalisa, Calafiore, Valeria, Nicolosi, Daniela, Calagna, Marianna, Grasso, Stephanie, Ragusa, Marco Tindaro Valentino, Gentile, Jennifer, Napolitano, Mariasanta |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
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 |
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