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

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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Bibliographic Details
Main Authors: Tatiana Bremova-Ertl, Jan Hofmann, Janine Stucki, Anja Vossenkaul, Matthias Gautschi
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Cells
Subjects:
hereditary metabolic ataxia
cerebellar ataxia
inborn error of metabolism
symptomatic treatment
disease-modifying treatment
GM2-gangliosidosis
Online Access:https://www.mdpi.com/2073-4409/12/18/2314

Internet

https://www.mdpi.com/2073-4409/12/18/2314

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