Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease.
Mariana B M de MoraesHygor M R de SouzaMaria L C de OliveiraRoy W A PeakeFernanda B ScalcoRafael GarrettPublished in: Metabolomics : Official journal of the Metabolomic Society (2023)
This study has demonstrated the potential of combined acquisition methods in LC-HRMS for Pompe disease investigation, allowing for routine determination of an established biomarker and discovery of complementary candidate biomarkers that may increase diagnostic accuracy, or improve the risk stratification of patients with disparate clinical phenotypes.
Keyphrases
- high resolution mass spectrometry
- liquid chromatography
- late onset
- ultra high performance liquid chromatography
- mass spectrometry
- gas chromatography
- replacement therapy
- solid phase extraction
- tandem mass spectrometry
- small molecule
- clinical practice
- high throughput
- simultaneous determination
- risk assessment
- early onset
- climate change
- smoking cessation