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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503492/
https://www.ncbi.nlm.nih.gov/pubmed/32854306
http://dx.doi.org/10.3390/ijms21176114

Ejemplares similares