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Published in 2022 at "Metabolites"
DOI: 10.3390/metabo12080703
Abstract: Fabry disease (FD) is an X-linked lysosomal disease due to a deficiency in the activity of the lysosomal-galactosidase A (GalA), a key enzyme in the glycosphingolipid degradation pathway. FD is a complex disease with a…
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Keywords:
fingerprinting fabry;
disease;
metabolic fingerprinting;
disease diagnostic ... See more keywords