Chargement en cours...
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...
Enregistré dans:
| Publié dans: | J Clin Endocrinol Metab |
|---|---|
| Auteurs principaux: | , , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Endocrine Society
2017
|
| Sujets: | |
| Accès en ligne: | 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 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|