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