Efficacy of high thiamine dosage in treating patients with biotin thiamine responsive basal ganglia disease: a two case reports
Author:
Affiliation:
1. Department of Pediatrics, King Fahad Hospital, AL Baha Region, Saudi Arabia
Publisher
Informa UK Limited
Link
https://www.tandfonline.com/doi/pdf/10.1080/00207454.2024.2352769
Reference24 articles.
1. Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening
2. Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation inSLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data
3. Tabarki B, Al-Hashem A, Alfadhel M, et al. Biotin-thiamine-responsive basal ganglia disease. In: Adam MP, Ardinger HH, Pagon RA, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2013. p. 1993–2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK169615/.
4. Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review
5. Biotin-thiamine-responsive basal ganglia disease in children: A treatable neurometabolic disorder
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