Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies
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A. Vanderver | Taeun Chang | G. Vezina | U. Lichter-Konecki | K. Cusmano-Ozog | Sandra Yang | K. Chapman | Jamie L Fraser | D. Zand | P. Smpokou | Laura Cramp