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10.26355/eurrev_202006_21706 98 ShiX.YuL.ZhangY.LiuZ.ZhangH.ZhangY.et al (2020a)

Mutations in the SLC25A19 gene that codes for the mitochondrial TPP transporter can result in either thiamin metabolism dysfunction syndrome-3 (THMD3) or thiamin metabolism dysfunction syndrome-4 (THMD4)