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Description

Acknowledgements We would like to thank Editage (www.editage.cn) for English language editing

OMIM: 607483) is a neurometabolic autosomal recessive disorder caused by a mutation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, convulsions, muscle rigidity, ataxia, dysarthria, and dystonia, which can be fatal if left untreated

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Sdan fungerer profilering Hvis du giver samtykke til analytiske og/eller markedsfringscookies p et brandwebsted: Sdanne reklamer kan vedrre: Hash-identifikatorer og mlgruppematchning Hvis du har givet det relevante samtykke, kan vi bruge hashede identifikatorer (f.eks