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</...

書誌詳細
出版年:	Diagnostics
主要な著者:	Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, Filipa Curado, Peter Bauer, François E. Mercier, Christiane Auray-Blais
フォーマット:	論文
言語:	英語
出版事項:	MDPI AG 2022-06-01
主題:	Gaucher disease type 1 urine biomarkers glucosylsphingosine lyso-Gb<sub>1</sub> lyso-Gb<sub>1</sub> analogs
オンライン･アクセス:	https://www.mdpi.com/2075-4418/12/6/1414

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