Article

Biotin-Thiamine Responsive Basal Ganglia Disease: A Retrospective Review of the Clinical, Radiological and Molecular Findings of Cases in Kuwait with Novel Variants

2023-03-02

Abstract excerpt

<title>Abstract</title><p><bold>Background:</bold>Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic pathogenic<italic>SLC19A3</italic>variants and characterized by subacute encephalopathy associated with confusion, convulsions, dysphagia, dysarthria, or other neurological manifestations.<bold>Methods:</bold>A retrospective an...

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Literature Corpus work: 5cb62633-42d7-5afe-84e0-0df8be5aa607
DOI: 10.21203/rs.3.rs-2605442/v1

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