DOI: 10.1055/s-00029030

Journal of Pediatric Neurology

References

Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW.
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Mol Genet Metab 2012;
106 (03) 385-394

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