Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles

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...

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Bibliographic Details
Main Authors: Michel Boutin, Pamela Lavoie, Iskren Menkovic, Amanda Toupin, Mona Abaoui, Maha Elidrissi-Elawad, Marie-Françoise Arthus, Carole Fortier, Claudia Ménard, Bruno Maranda, Daniel G. Bichet, Christiane Auray-Blais
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:International Journal of Molecular Sciences
Subjects:
Fabry disease
diurnal variation
globotriaosylceramide
globotriaosylsphingosine
mass spectrometry
glycosphingolipids
Online Access:https://www.mdpi.com/1422-0067/21/17/6114

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https://www.mdpi.com/1422-0067/21/17/6114

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