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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Главные авторы:	Hiroyuki Ida, Yuko Watanabe, Rieko Sagara, Yoichi Inoue, Jovelle Fernandez
Формат:	Artigo
Язык:	Inglês
Опубликовано:	BMC 2022-11-01
Серии:	Orphanet Journal of Rare Diseases
Предметы:	Biomarkers Gaucher disease Lyso-Gb1 (glucosylsphingosine) Lyso-GL1 (glucosylsphinogosine) Japan Velaglucerase alfa
Online-ссылка:	https://doi.org/10.1186/s13023-022-02549-6
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