Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

PURPOSE: We studied galactose supplementation in SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG), caused by mono-allelic pathogenic variants in SLC35A2 (Xp11.23), encoding the ER and Golgi UDP-galactose transporter. Patients present with epileptic encephalopathy, developmental disability,...

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Detalles Bibliográficos
Autores principales: Witters, Peter, Tahata, Shawn, Barone, Rita, Õunap, Katrin, Salvarinova, Ramona, Grønborg, Sabine, Hoganson, George, Scaglia, Fernando, Lewis, Andrea Margaret, Mori, Mari, Sykut-Cegielska, Jolanta, Edmondson, Andrew, He, Miao, Morava, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275909/
https://www.ncbi.nlm.nih.gov/pubmed/32103184
http://dx.doi.org/10.1038/s41436-020-0767-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275909/
https://www.ncbi.nlm.nih.gov/pubmed/32103184
http://dx.doi.org/10.1038/s41436-020-0767-8

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