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Journal of Inherited Metabolic Disease|December 20, 2012
Maternal and fetal tyrosinemia type IN Garcia Segarra, S Roche, A Imbard, et al.
Molecular Genetics and Metabolism|September 15, 2011
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 proteinA Imbard, A Boutron, C Vequaud, et al.
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