article_metadata: Irene Flønes Paweł Sztromwasser Kristoffer Haugarvoll Christian Dölle Maria Lykouri Thomas Schwarzlmüller Inge Jonassen Hrvoje Miletic Stefan Johansson Per M Knappskog Laurence A Bindoff Charalampos Tzoulis
article_metadata: 10.1371/journal.pone.0149055
article_metadata: PLoS One
article_metadata: 2016 Feb 10;11(2):e0149055.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/26863430/
article_metadata: Basal Ganglia / metabolism Basal Ganglia Diseases / genetics Gene Silencing Membrane Transport Proteins / genetics Promoter Regions, Genetic
article_metadata: Basal Ganglia / metabolism Basal Ganglia Diseases / genetics Gene Silencing Membrane Transport Proteins / genetics Promoter Regions, Genetic Case Reports Research Support, Non-U.S. Gov't 5' Untranslated Regions Adolescent Alleles Biotin / metabolism Brain / metabolism Exome Fatal Outcome Female Gene Deletion Genetic Predisposition to Disease Heterozygote Humans Male Mutation Phenotype Sequence Analysis, DNA Siblings Thiamine / metabolism Young Adult 5' Untranslated Regions Membrane Transport Proteins SLC19A3 protein, human Biotin Thiamine Basal ganglia disease, biotin-responsive
article_metadata: PMC4749299
article_metadata: 26863430
article_metadata: Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy
article_metadata: 2016