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Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options

A number of hereditary ataxias are caused by inborn errors of metabolism (IEM), most of which are highly heterogeneous in their clinical presentation. Prompt diagnosis is important because disease-specific therapies may be available. In this review, we offer a comprehensive overview of metabolic ata...

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Detalles Bibliográficos
Autores principales: Bremova-Ertl, Tatiana, Hofmann, Jan, Stucki, Janine, Vossenkaul, Anja, Gautschi, Matthias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10527548/
https://www.ncbi.nlm.nih.gov/pubmed/37759536
http://dx.doi.org/10.3390/cells12182314