Φορτώνει......
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndromes, lead to diseases with variable clinical pictures. We report the delineation of a novel type of CDG identified in 2 children presenting with severe developmental delay, seizures, and dysmorph...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Clin Invest |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
American Society for Clinical Investigation
2000
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC377434/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10642602/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI8691 |
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