Φορτώνει......
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy
Primary polyneuropathy in the context of Seip-Berardinelli type 1 seipinopathy, or congenital generalized lipodystrophy type 1 (CGL1) has not been previously reported. We report the case history of a 27 year old female CGL1 patient presenting with an unusual additional development of non-diabetic pe...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Clin Res Pediatr Endocrinol |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Galenos Publishing
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6745459/ https://ncbi.nlm.nih.gov/pubmed/30563316 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0227 |
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