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(1), these studies highlighted lyso-Gb(1) analogs −28, −26, −12 (A/B), +2, +...

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Detalles Bibliográficos
Autores principales: Menkovic, Iskren, Boutin, Michel, Alayoubi, Abdulfatah, Curado, Filipa, Bauer, Peter, Mercier, François E., Auray-Blais, Christiane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9221757/
https://www.ncbi.nlm.nih.gov/pubmed/35741225
http://dx.doi.org/10.3390/diagnostics12061414

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9221757/
https://www.ncbi.nlm.nih.gov/pubmed/35741225
http://dx.doi.org/10.3390/diagnostics12061414

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