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Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa.
Meldau S, Fratter C, Bhengu LN, Sergeant K, Khan K, Riordan GT, Berman PAM. Meldau S, et al. Among authors: riordan gt. Mol Genet Metab Rep. 2020 Jul 22;24:100629. doi: 10.1016/j.ymgmr.2020.100629. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32742935 Free PMC article.