DOI:
10.1055/s-00000041
Neuropediatrics
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References
Fraser JL, Vanderver A, Yang S. et al.
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
Mol Genet Metab Rep 2014;
1: 66-70
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