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Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations
We report a 3-year follow-up of high-dose ubiquinol supplementation in a case of familial multiple system atrophy (MSA) with compound heterozygous nonsense (R387X) and missense (V393A) mutations in COQ2. A high-dose ubiquinol supplementation substantially increased total coenzyme Q(10) levels in cer...
Autores principales: | Mitsui, Jun, Koguchi, Ken, Momose, Toshimitsu, Takahashi, Miwako, Matsukawa, Takashi, Yasuda, Tsutomu, Tokushige, Shin-ichi, Ishiura, Hiroyuki, Goto, Jun, Nakazaki, Shigeaki, Kondo, Tomoyoshi, Ito, Hidefumi, Yamamoto, Yorihiro, Tsuji, Shoji |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427137/ https://www.ncbi.nlm.nih.gov/pubmed/28150130 http://dx.doi.org/10.1007/s12311-017-0846-9 |
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