Ferreira CR, Whitehead MT, Leon E. Biotin‐thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next‐generation sequencing data. American J of Med Genetics Pt A. 2017 Apr 12;173(6):1502–13. doi: 10.1002/ajmg.a.38189.
Biotin‐thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next‐generation sequencing data