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Kawano H, Yasue H, Kitagawa A, Hirai N, Yoshida T, Soejima H,

Figure 3 After the diagnosis of GSSD, the infant continued to receive l-carnitine to improve her metabolism, oral sodium bicarbonate to correct acidosis, and oral vitamins C and E to prevent oxidative stress

Recognizing these limitations, clinical practice has increasingly shifted away from restricted SNP panels toward what is widely considered one of the most cost-effective strategies to date: whole-exome sequencing (WES

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