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Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
OBJECTIVE: We evaluated whether substrate reduction therapy with miglustat could alter the course of action myoclonus–renal failure syndrome (AMRF), a rare, progressive myoclonic epilepsy with early mortality caused by scavenger receptor class B member 2 (SCARB2) gene mutations. METHODS: We identifi...
| Autores principales: | , , , , |
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| 格式: | Online Artículo Texto |
| 語言: | English |
| 出版: |
Wolters Kluwer
2021
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| 主題: | |
| 在線閱讀: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8320328/ https://www.ncbi.nlm.nih.gov/pubmed/34337151 http://dx.doi.org/10.1212/NXG.0000000000000614 |