Browsing by Subject "Lyso-Gb1"

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    The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.
    (Molecular genetics and metabolism reports, 2021-06) Stiles, Ashlee R; Huggins, Erin; Fierro, Luca; Jung, Seung-Hye; Balwani, Manisha; Kishnani, Priya S
    Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine. Glucosylsphingosine has emerged as a sensitive and specific biomarker for GD and treatment response. However, limited information exists on its role in guiding treatment decisions in pre-symptomatic patients identified at birth or due to a positive family history. We present two pediatric patients with GD1 and highlight the utility of glucosylsphingosine monitoring in guiding treatment initiation.