Učitavanje...
Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association
The neuronal ceroid lipofuscinoses (NCL) are a collection of lysosomal storage diseases characterised by the accumulation of characteristic inclusions containing lipofuscin in various tissues of the body and are one of the causes of progressive myoclonic epilepsy. Mutations in at least thirteen gene...
Spremljeno u:
| Izdano u: | Epilepsy Behav Rep |
|---|---|
| Glavni autori: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier
2020
|
| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7528204/ https://ncbi.nlm.nih.gov/pubmed/33024953 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebr.2020.100389 |
| Oznake: |
Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!
|