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It is the most severe glycolytic enzymopathy and lethal, frequently in early childhood (Orosz et al ., 2009 ) Clinically, patients with the E104D variant present a severe phenotype that requires ventilator support in the second year of life (Sarper et al ., 2013 ), and most patients die before the age of six (Singer et al ., 2016 )

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[DOI] [PMC free article] [PubMed] [Google Scholar] 94.Lin L., Lee J.H., Bongmba O.Y., Ma X., Zhu X., Sheikh-Hamad D., Sun Y