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The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
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.
PMID: 22079328
Free PMC article.
Corrected and republished.
Review.
Why are there no proven therapies for genetic mitochondrial diseases?
Stacpoole PW.
Stacpoole PW.
Mitochondrion. 2011 Sep;11(5):679-85. doi: 10.1016/j.mito.2011.05.002. Epub 2011 May 13.
Mitochondrion. 2011.
PMID: 21605707
Free PMC article.
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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 Jul;106(3):385-94. doi: 10.1016/j.ymgme.2012.03.017.
Mol Genet Metab. 2012.
PMID: 22896851
Free PMC article.
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