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Hereditary Disorders of Manganese Metabolism: Pathophysiology of Childhood-Onset Dystonia-Parkinsonism in SLC39A14 Mutation Carriers and Genetic Animal Models
Over the last decade, several clinical reports have outlined cases of childhood-onset manganese (Mn)-induced dystonia-parkinsonism, resulting from loss-of-function mutations in the Mn influx transporter gene SLC39A14. These clinical cases have provided a wealth of knowledge on Mn toxicity and homeos...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9653914/ https://www.ncbi.nlm.nih.gov/pubmed/36361624 http://dx.doi.org/10.3390/ijms232112833 |