Dataset Information

Untargeted LCHRMS metabolomics reveals novel biomarkers to support mucopolysaccharidoses diagnosis

ABSTRACT: Untargeted metabolomics enabled the detection of metabolites that could improve our understanding of MPSs physiopathology.

INSTRUMENT(S): Q Exactive Plus

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

SUBMITTER: Clarisse Torres

PROVIDER: MSV000090579 | MassIVE | Mon Oct 24 12:35:00 BST 2022

REPOSITORIES: MassIVE

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Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses.

Torres Clarisse L CL Scalco Fernanda B FB de Oliveira Maria Lúcia C MLC Peake Roy W A RWA Garrett Rafael R

Clinica chimica acta; international journal of clinical chemistry 20230209

<h4>Background</h4>Mucopolysaccharidoses (MPSs) are inherited genetic diseases caused by an absence or deficiency of lysosomal enzymes responsible for catabolizing glycosaminoglycans (GAGs). Undiagnosed patients, or those without adequate treatment in early life, can be severely and irreversibly affected by the disease. In this study, we applied liquid chromatography-high resolution mass spectrometry (LC-HRMS)-based untargeted metabolomics to identify potential biomarkers for MPS disorders to be ...[more]

PMID: 36764508

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