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The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW. Patel KP, et al. Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7. Mol Genet Metab. 2012. Corrected and republished in: Mol Genet Metab. 2012 Jul;106(3):385-94. doi: 10.1016/j.ymgme.2012.03.017 PMID: 22079328 Free PMC article. Corrected and republished. Review.