Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

Por Fraser, Jamie L., Vanderver, Adeline, Yang, Sandra, Chang, Taeun, Cramp, Laura, Vezina, Gilbert, Lichter-Konecki, Uta, Cusmano-Ozog, Kristina P., Smpokou, Patroula, Chapman, Kimberly A., Zand, Dina J.
Publicado no Mol Genet Metab Rep (2014)