Quantitation of a Urinary Profile of Biomarkers in Gaucher Disease Type 1 Patients Using Tandem Mass Spectrometry

Gaucher disease is a rare inherited disorder caused by a deficiency of the lysosomal acid beta-glucocerebrosidase enzyme. Metabolomic studies by our group targeted several new potential urinary biomarkers. Apart from lyso-Gb<sub>1</sub>, these studies highlighted lyso-Gb<sub>1</...

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Bibliographic Details
Published in:Diagnostics
Main Authors: Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, Filipa Curado, Peter Bauer, François E. Mercier, Christiane Auray-Blais
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Subjects:
Gaucher disease type 1
urine
biomarkers
glucosylsphingosine
lyso-Gb<sub>1</sub>
lyso-Gb<sub>1</sub> analogs
Online Access:https://www.mdpi.com/2075-4418/12/6/1414

Internet

https://www.mdpi.com/2075-4418/12/6/1414

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