An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan

Abstract Background Gaucher disease (GD) is an autosomal recessive disease caused by GBA1 mutations resulting in glucosylceramide accumulation in macrophages. GD is characterized by hepatosplenomegaly, anemia, thrombocytopenia, bone complications, and neurological complications. Glucosylsphingosine...

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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	Hiroyuki Ida, Yuko Watanabe, Rieko Sagara, Yoichi Inoue, Jovelle Fernandez
Format:	Article
Language:	English
Published:	BMC 2022-11-01
Subjects:	Biomarkers Gaucher disease Lyso-Gb1 (glucosylsphingosine) Lyso-GL1 (glucosylsphinogosine) Japan Velaglucerase alfa
Online Access:	https://doi.org/10.1186/s13023-022-02549-6