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1.
Fig. 1

Fig. 1. From: Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

The results of genetic analysis showing novel variants in PDHA1 and DLD identified by Sanger (A) and whole-exome (B) sequencing.

E. Ciara, et al. Mol Genet Metab Rep. 2016 Jun;7:70-76.
2.
Fig. 2

Fig. 2. From: Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

The results of response to intravenous glucose loading in PDHc-affected patients and reference groups. Mean value of lactate concentration (A), pyruvate concentration (B), mean value of lactate and pyruvate concentrations with standard deviation (C), effect of vitamin B1 supplementation (300 mg/day) in patient PM (D).

E. Ciara, et al. Mol Genet Metab Rep. 2016 Jun;7:70-76.

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