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Description
Brain Res 1792:148031

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
PMID: 8858401
So what is it exactly
