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Parkinsonism in Association with Dihydropteridine Reductase Deficiency
We report a 16-year-old man with disorders of tetrahydrobiopterin metabolism due to dihydropteridine reductase (DHPR) deficiency. He revealed moderate mental retardation, parkinsonism, and spastic paralysis with levodopa and 5-hydroxytryptophan (5-HTP) supplementation from the age of 2 months. Brain...
Autores principales: | Takahashi, Yoshiaki, Manabe, Yasuhiro, Nakano, Yumiko, Yunoki, Taijun, Kono, Syoichiro, Narai, Hisashi, Furujo, Mahoko, Abe, Koji |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346942/ https://www.ncbi.nlm.nih.gov/pubmed/28413401 http://dx.doi.org/10.1159/000456610 |
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