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 <i>GLA</i> gene encoding the α-galactosidase A enzyme. This enzyme cleaves the last sugar unit of glycosphingolipids, including globotriaosylceramide (Gb<sub>3</sub>), globotriaosylsphingosine...
Main Authors: | , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-08-01
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Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/21/17/6114 |