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Glucosylsphingosine levels at diagnosis of Gaucher disease

Classification of mild type 1, severe type 1, and neuronopathic Gaucher disease (nGD) was based on genotypes. Glucosylsphingosine (lyso-Gb1) levels of subjects with wild-type GBA1 were considered to be the control.

Abbreviations: lyso-Gb1, glucosylsphingosine; nGD, neuronopathic Gaucher disease; NS, non-significant. Black dots represent the outliers.

(Source: Dinur T, Bauer P, Beetz C, et al. Gaucher disease diagnosis using Lyso-Gb1 on dry blood spot samples: time to change the paradigm? Int J Mol Sci 2022;23[3]:1627. Creative Commons Attribution [CC BY] License,