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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...

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Detalles Bibliográficos
Autores principales:	Boutin, Michel, Lavoie, Pamela, Menkovic, Iskren, Toupin, Amanda, Abaoui, Mona, Elidrissi-Elawad, Maha, Arthus, Marie-Françoise, Fortier, Carole, Ménard, Claudia, Maranda, Bruno, Bichet, Daniel G., Auray-Blais, Christiane
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503492/ https://www.ncbi.nlm.nih.gov/pubmed/32854306 http://dx.doi.org/10.3390/ijms21176114

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