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Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease

Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare metabolic condition caused by mutations in the SLC19A3 gene. BTBGD presents with encephalopathy and significant disease progression when not treated with biotin and/or thiamine. We present a patient of Mexican and European ancestry d...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: L.J. Sremba, R.C. Chang, N.M. Elbalalesy, E.J. Cambray-Forker, J.E. Abdenur
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2014-01-01
Schriftenreihe:Molecular Genetics and Metabolism Reports
Schlagworte:
Biotin thiamine responsive basal ganglia disease
BTBGD
Leigh syndrome
SLC19A3
Basal ganglia
Thiamine transporter-2
Online-Zugang:http://www.sciencedirect.com/science/article/pii/S2214426914000500
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