Biotin-Responsive Basal Ganglia Disease: Treatable Metabolic Disorder with SLC19A3 Mutation Presenting as Rapidly Progressive Dementia
Author:
Publisher
Medknow
Subject
Neurology (clinical),Neurology
Reference10 articles.
1. SLC19A3 gene defects sorting the phenotypes and acronyms: Review;Alfadhel;Neuropediatrics,2018
2. Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor;McLaren;Bioinformatics,2010
3. Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: Biotin is not a substrate for hTHTR2;Subramanian;Am J Physiol Cell Physiol,2006
4. Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: A treatable cause of Leigh syndrome;Ortigoza-Escobar;Brain,2016
5. Biotin-responsive basal ganglia disease: A novel entity;Ozand;Brain,1998
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1. Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives;International Journal of Molecular Sciences;2024-06-14
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