ArticleDiagnostics (Basel, Switzerland)2022
Quantitation of a Urinary Profile of Biomarkers in Gaucher Disease Type 1 Patients Using Tandem Mass Spectrometry.
Article in Diagnostics (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Review: Utility of mass spectrometry in rare disease research and diagnosis.NPJ genomic medicine · 2025Review
- EnsembleSkinNet: a transfer learning-based framework for efficient skin cancer detection with explainable AI integration.Frontiers in oncology · 2025Article
- UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots.Biomolecules · 2024Article
- Oxidative Stress and Inflammatory Biomarkers for Populations with Occupational Exposure to Nanomaterials: A Systematic Review and Meta-Analysis.Antioxidants (Basel, Switzerland) · 2022Review
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
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
methodUrine samples were purified using solid-phase extraction. A 12 min UPLC-MS/MS method was developed.
resultsValidation assays revealed high precision and accuracy for creatinine and lyso-Gb
conclusionsThese data suggest that the metabolites investigated might be interesting GD biomarkers. More studies with a larger cohort of patients will be needed to better understand the clinical significance of these GD biomarkers.
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