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-Gb₁, these studies highlighted lyso-Gb₁ analogs −28, −26...

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Principais autores:	Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, Filipa Curado, Peter Bauer, François E. Mercier, Christiane Auray-Blais
格式:	Artigo
語言:	Inglês
出版:	MDPI AG 2022-06-01
叢編:	Diagnostics
主題:	Gaucher disease type 1 urine biomarkers glucosylsphingosine lyso-Gb<sub>1</sub> lyso-Gb<sub>1</sub> analogs
在線閱讀:	https://www.mdpi.com/2075-4418/12/6/1414
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