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  1. 1
    The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling

    The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling by Natasha Zeid, Chanan Stauffer, Amy Yang, Hetanshi Naik, Luca Fierro, Jaya Ganesh, Manisha Balwani

    Published 2020-03-01
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  2. 2
    The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

    The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease by Ashlee R. Stiles, Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani, Priya S. Kishnani

    Published 2021-06-01
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