Article

Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-Responsive Basal Ganglia disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene

2024-03-06

Abstract excerpt

<title>Abstract</title> <p>The neurometabolic disorder known as biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive condition linked to bi-allelic pathogenic mutations in the <italic>SLC19A3</italic> gene. BTBGD is a neurological disorder characterized by progressive encephalopathy, confusion, seizures, dysarthria, dystonia, and severe disabilities. Diagnosis is difficult due to...

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Literature Corpus work: f3821f5e-2d9e-5fa2-b63c-c9c936fec36a
DOI: 10.21203/rs.3.rs-3977137/v1

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Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-Responsive Basal Ganglia disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 geneDOI 10.21203/rs.3.rs-3977137/v1Read

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