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...

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Detalles Bibliográficos
Autores principales: Takahashi, Yoshiaki, Manabe, Yasuhiro, Nakano, Yumiko, Yunoki, Taijun, Kono, Syoichiro, Narai, Hisashi, Furujo, Mahoko, Abe, Koji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2017
Materias:
Case Report
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

Internet

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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