טוען...
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
BACKGROUND: TMEM199 deficiency was recently shown in four patients to cause liver disease with steatosis, elevated serum transaminases, cholesterol and alkaline phosphatase and abnormal protein glycosylation. There is no information on the long-term outcome in this disorder. RESULTS: We here present...
שמור ב:
| הוצא לאור ב: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2018
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5763540/ https://ncbi.nlm.nih.gov/pubmed/29321044 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0757-3 |
| תגים: |
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