Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease

In Gaucher disease (GD), genetic deficiency of acid β-glucosidase leads to accumulation of its substrate glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph). Lipid-laden cells, most prominently seen as macrophages engorged with GlcCer and GlcSph-laden lysosomes, trigger chronic metabolic infl...

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Autori principali:	Nathaniel Kleytman, Jiapeng Ruan, Audrey Ruan, Bailin Zhang, Vagishwari Murugesan, Haiqun Lin, Lilu Guo, Katherine Klinger, Pramod K. Mistry
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Elsevier 2021-12-01
Serie:	Molecular Genetics and Metabolism Reports
Soggetti:	Gaucher disease Substrate reduction therapy Glucosylsphingosphingosine Eliglustat Splenomegaly
Accesso online:	http://www.sciencedirect.com/science/article/pii/S2214426921000926
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