Articles with "fingerprinting fabry" as a keyword



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Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects

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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… read more here.

Keywords: fingerprinting fabry; disease; metabolic fingerprinting; disease diagnostic ... See more keywords