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Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders.
- Source :
-
Bioanalysis [Bioanalysis] 2022 Mar; Vol. 14 (5), pp. 289-306. Date of Electronic Publication: 2022 Feb 04. - Publication Year :
- 2022
-
Abstract
- Background: Sphingolipidoses are caused by a defective sphingolipid catabolism, leading to an accumulation of several glycolipid species in tissues and resulting in neurotoxicity and severe systemic manifestations. Methods & results: Urine samples from controls and patients were purified by solid-phase extraction prior to the analysis by ultra-high-performance liquid chromatography (UPLC) combined with MS/MS. A UPLC-MS/MS method for the analysis of 21 urinary creatinine-normalized biomarkers for eight diseases was developed and validated. Conclusion: Considering the growing demand to identify patients with different sphingolipidoses early and reliably, this methodology will be applied for high-risk screening to target efficiently patients with various sphingolipidoses.
Details
- Language :
- English
- ISSN :
- 1757-6199
- Volume :
- 14
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Bioanalysis
- Publication Type :
- Academic Journal
- Accession number :
- 35118880
- Full Text :
- https://doi.org/10.4155/bio-2021-0259