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Article

Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing

16 Apr 2015

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Share to Alcoholism and Thiamine Deficiency
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 25876998
DOI: 10.1038/jhg.2015.35

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Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencingPMID 25876998Read ↗

Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.Semantic proximity Read ↗

Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia diseaseSemantic proximity Read ↗

Biotin-Responsive Basal Ganglia Disease: Treatable Metabolic Disorder with SLC19A3 Mutation Presenting as Rapidly Progressive Dementia.Semantic proximity Read ↗

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.Semantic proximity Read ↗

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Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.Semantic proximity Read ↗

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Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.Semantic proximity Read ↗

Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Semantic proximity Read ↗

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An Indian Young-onset Dementia With Parkinsonism With Double Heterozygous Mutations in ABCA7 and PRKN Identified Through Whole-exome Sequencing.Semantic proximity Read ↗

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