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Article

Glucosylsphingosine is a reliable response biomarker in G aucher disease

23 Feb 2018

Abstract excerpt

Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by impaired activity of β-glucocerebrosidase due to mutations in the GBA1 gene. While glucosylsphingosine (Lyso-Gb1), the deacylated form of glucosylceramide, is an optimal diagnostic biomarker of GD,1, 2 there is a substantial lack of studies identifying a valid biomarker which quantifies patient response to therapy (rate or response...

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PMID: 29473199
DOI: 10.1002/ajh.25074

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