Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry

Molecular Genetics and Metabolism（2021）

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摘要

Glycomic profiling by liquid chromatography mass spectrometry identifies a range of lysosomal storage disorders. This test can be used in clinical evaluations to rapidly focus a diagnosis, as well as to clarify or support additional gene sequencing and enzyme studies.

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关键词

Lysosomal storage disorders,Inborn errors of metabolism,Glycomics,Metabolomics,Biomarker discovery,Liquid chromatography mass spectrometry

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