• <em>SLC25A19</em>-Related Thiamine Metabolism Dysfunction
• A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia
• Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria
• Amish microcephaly: Long-term survival and biochemical characterization
• Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder-A Report of Two Indian Cases
• Defects of thiamine transport and metabolism
• Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4
• Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia
• Mitochondrial uptake of thiamin pyrophosphate: physiological and cell biological aspects
• SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature
• SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis