Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects

CONTEXT: TMEM165 deficiency is a severe multisystem disease that manifests with metabolic, endocrine, and skeletal involvement. It leads to one type of congenital disorders of glycosylation (CDG), a rapidly growing group of inherited diseases in which the glycosylation process is altered. Patients h...

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Bibliografiske detaljer
Udgivet i:J Clin Endocrinol Metab
Main Authors: Morelle, Willy, Potelle, Sven, Witters, Peter, Wong, Sunnie, Climer, Leslie, Lupashin, Vladimir, Matthijs, Gert, Gadomski, Therese, Jaeken, Jaak, Cassiman, David, Morava, Eva, Foulquier, François
Format: Artigo
Sprog:Inglês
Udgivet: Endocrine Society 2017
Fag:
Clinical Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6283449/
https://ncbi.nlm.nih.gov/pubmed/28323990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2016-3443
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