Φορτώνει......
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene
An 18-year-old girl referred to a rheumatologist with malar flush and Gottran papules was found to have a markedly elevated serum CK. She was a good student and an avid ballet dancer. A muscle biopsy showed massive triglyceride storage, which was also found in peripheral blood granulocytes (Jordan a...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Neuromuscul Disord |
|---|---|
| Κύριοι συγγραφείς: | , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2010
|
| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7546172/ https://ncbi.nlm.nih.gov/pubmed/20471263 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2010.04.004 |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|