Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach

Gaucher disease (GD) is a rare autosomal recessive multisystemic lysosomal storage disorder presenting a marked phenotypic and genotypic variability. GD is caused by a deficiency in the glucocerebrosidase enzyme. The diagnosis of GD remains challenging because of the large clinical spectrum associat...

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Udgivet i:Int J Mol Sci
Main Authors: Menkovic, Iskren, Boutin, Michel, Alayoubi, Abdulfatah, Mercier, François E., Rivard, Georges-Étienne, Auray-Blais, Christiane
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7660648/
https://ncbi.nlm.nih.gov/pubmed/33114153
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21217869
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