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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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Principais autores: Hiroyuki Ida, Yuko Watanabe, Rieko Sagara, Yoichi Inoue, Jovelle Fernandez
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2022-11-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Biomarkers
Gaucher disease
Lyso-Gb1 (glucosylsphingosine)
Lyso-GL1 (glucosylsphinogosine)
Japan
Velaglucerase alfa
Online adgang:https://doi.org/10.1186/s13023-022-02549-6
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