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Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24043223
Abstract: Fabry disease (FD) is an X-linked lysosomal storage disorder where impaired α-galactosidase A enzyme activity leads to the intracellular accumulation of undegraded glycosphingolipids, including globotriaosylsphingosine (lyso-Gb3) and related analogues. Lyso-Gb3 and related analogues are useful…
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Keywords:
lyso gb3;
globotriaosylsphingosine;
dried blood;
analysis ... See more keywords