Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

Abstract Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive lysosomal accumulation of glucosylceramide (GlcCer) and its deacylated derivate, glucosylsphingosine (GlcSph). GC...

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Bibliographic Details
Main Authors: A. Dardis, H. Michelakakis, P. Rozenfeld, K. Fumic, J. Wagner, E. Pavan, M. Fuller, S. Revel-Vilk, D. Hughes, T. Cox, J. Aerts, the International Working Group of Gaucher Disease (IWGGD)
Format: Article
Language:English
Published: BMC 2022-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Gaucher disease
Biomarkers
Enzyme activity
Genetic testing
Online Access:https://doi.org/10.1186/s13023-022-02573-6

Internet

https://doi.org/10.1186/s13023-022-02573-6

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