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Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene encoding the α-galactosidase A enzyme. This enzyme cleaves the last sugar unit of glycosphingolipids, including globotriaosylceramide (Gb(3)), globotriaosylsphingosine (lyso-Gb(3)), and galabiosylceramide (Ga...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Int J Mol Sci |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
MDPI
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7503492/ https://ncbi.nlm.nih.gov/pubmed/32854306 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21176114 |
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