Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening

Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening

Introduction: Gaucher disease is a lysosomal storage disease due to deficiency of glucocerebrosidase, leading to the accumulation of glucosylceramide, particularly in macrophages. In addition to storage, secondary abnormalities such as inflammation, cellular stress, and impaired autophagy may contri...

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Bibliographic Details
Main Authors: V. Gragnaniello, D. Gueraldi, A. Saracini, D. Velasquez Rivas, C. Cazzorla, L. Salviati, A.B. Burlina
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Gaucher disease
Inflammation
Autophagy
Newborn screening
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000023
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