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A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism

BACKGROUND: Manganese is a critical trace element that not only has antioxidant properties, but also is essential for various metabolic pathways and neurotransmitters production. However, it can be toxic at high levels, particularly in the central nervous system. Manganese intoxication can be acquir...

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Detalles Bibliográficos
Autores principales: Tavasoli, Azita, Arjmandi Rafsanjani, Khadije, Hemmati, Saba, Mojbafan, Marziyeh, Zarei, Elham, Hosseini, Soudabeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6615235/
https://www.ncbi.nlm.nih.gov/pubmed/31288771
http://dx.doi.org/10.1186/s12887-019-1611-7