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.

Authors

Carlos R FerreiraFollow
Matthew T Whitehead, George Washington UniversityFollow
Eyby Leon, George Washington University

Document Type

Journal Article

Publication Date

4-12-2017

Journal

American Journal of Medical Genetics. Part A

DOI

10.1002/ajmg.a.38189

APA Citation

Ferreira, C., Whitehead, M., & Leon, E. (2017). 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 Journal of Medical Genetics. Part A, (). http://dx.doi.org/10.1002/ajmg.a.38189

Peer Reviewed

1