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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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Principais autores: Nathaniel Kleytman, Jiapeng Ruan, Audrey Ruan, Bailin Zhang, Vagishwari Murugesan, Haiqun Lin, Lilu Guo, Katherine Klinger, Pramod K. Mistry
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021-12-01
coleção:Molecular Genetics and Metabolism Reports
Assuntos:
Gaucher disease
Substrate reduction therapy
Glucosylsphingosphingosine
Eliglustat
Splenomegaly
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S2214426921000926
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