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  • Title: Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease.
    Author: Rasmussen CA, Quadri A, Vucko E, Kim K, Hickey R, Baker JJ, Charrow J, Prada CE.
    Journal: Mol Genet Metab; 2024 Jan; 141(1):107736. PubMed ID: 38000346.
    Abstract:
    Glucosylsphingosine (lyso-GL1) is a biomarker used to monitor disease and treatment response in Gaucher disease. Data from adults show that higher values of lyso-GL1 are associated with increased disease progression, however similar data in the pediatric population is lacking. In a cohort of pediatric patients, we present a relationship between lyso-GL1 value and Gaucher type, age, and treatment response. Data from this study may serve as a reference for providers monitoring children with Gaucher disease.
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