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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Hlavní autoři:	Hiroyuki Ida, Yuko Watanabe, Rieko Sagara, Yoichi Inoue, Jovelle Fernandez
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2022-11-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Biomarkers Gaucher disease Lyso-Gb1 (glucosylsphingosine) Lyso-GL1 (glucosylsphinogosine) Japan Velaglucerase alfa
On-line přístup:	https://doi.org/10.1186/s13023-022-02549-6
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