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

Study Type

Case Report

Publication Date

6-1-2017

Journal

American Journal of Medical Genetics. Part A

Volume

173

Issue

6

DOI

10.1002/ajmg.a.38189

Keywords

Basal Ganglia; Basal Ganglia Diseases; Brain; Child, Preschool; Female; Gene Frequency; High-Throughput Nucleotide Sequencing; Humans; Magnetic Resonance Imaging; Membrane Transport Proteins; Mutation; Pyruvic Acid; Spectrum Analysis; Thiamine

Peer Reviewed

1