Title

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.

Document Type

Journal Article

Publication Date

4-12-2017

Journal

American Journal of Medical Genetics. Part A

DOI

10.1002/ajmg.a.38189

Peer Reviewed

1