A Brazilian Rare-Disease Center’s Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF

Gaucher disease (GD, OMIM 230800) is one of the most common lysosomal disorders, being caused by the deficient activity of the enzyme acid β-glucocerebrosidase (Gcase). Three clinical forms of Gaucher’s disease (GD) are classified based on neurological involvement. Type 1 (GD1) is non-neuronopathic,...

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Bibliographic Details
Main Authors: Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano O. Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, Ida Vanessa D. Schwartz
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:International Journal of Molecular Sciences
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Online Access:https://www.mdpi.com/1422-0067/25/5/2870