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Clinical Genetics|December 17, 2009
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiencyE Quintana, L Gort, C Busquets, et al.Journal of Inherited Metabolic Disease|November 20, 2009
PDH E1β deficiency with novel mutations in two patients with Leigh syndromeE Quintana, J A Mayr, M T García Silva, et al.Pageof 2