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ProteomicsCombined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in Pompe disease
Pompe disease is a rare, lysosomal disorder, characterized by intra-lysosomal glycogen accumulation due to an impaired function of ?-glucosidase enzyme. The laboratory testing for Pompe is usually performed by enzyme activity, genetic test, or urine glucose tetrasaccharide (Glc4) screening by HPLC. ...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-11-07 | MSV000088329 | MassIVE
MetabolomicsGNPS - Untargeted LCHRMS metabolomics reveals novel biomarkers to support mucopolysaccharidoses diagnosis
Untargeted metabolomics enabled the detection of metabolites that could improve our understanding of MPSs physiopathology.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2022-10-24 | MSV000090579 | GNPS
ProteomicsUntargeted LCHRMS metabolomics reveals novel biomarkers to support mucopolysaccharidoses diagnosis
Untargeted metabolomics enabled the detection of metabolites that could improve our understanding of MPSs physiopathology.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2022-10-24 | MSV000090579 | MassIVE
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