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Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report
OBJECTIVE: Autosomal recessive spinocerebellar ataxia type 9 (SCAR9) has received attention due to its potential response to coenzyme Q10 (CoQ10) supplementation; however, the response has so far been limited and variable. METHODS: We report a SCAR9 patient with severe hypophosphatemia who responded...
Autores principales: | Haji, Shotaro, Miyamoto, Ryosuke, Morino, Hiroyuki, Osaki, Yusuke, Tsuji, Seijiro, Nishino, Ichizo, Abe, Masahiro, Izumi, Yuishin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10389171/ https://www.ncbi.nlm.nih.gov/pubmed/37529414 http://dx.doi.org/10.1212/NXG.0000000000200070 |
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