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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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| 出版年: | J Clin Endocrinol Metab |
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| 主要な著者: | , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Endocrine Society
2017
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| 主題: | |
| オンライン･アクセス: | 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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