Muscular Dystrophy-Dystroglycanopathy and Epilepsy
Investigators from the University of Catania, and other centers in Europe have identified a novel genetic glycosylation disorder, DPM2-CDG (part of the DPM synthase complex) in 3 infants with severe hypotonia, progressive muscle weakness and wasting, elevated CK, absent psychomotor development, intr...
שמור ב:
| מחבר ראשי: | |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Pediatric Neurology Briefs Publishers
2013-01-01
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| סדרה: | Pediatric Neurology Briefs |
| נושאים: | |
| גישה מקוונת: | https://www.pediatricneurologybriefs.com/articles/462 |
| תגים: |
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!
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