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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)

Stromal DHAR was thought to be superfluous, given the fast chemical reduction of dehydroascorbate (DHA) by reduced glutathione (GSH), particularly at alkaline pH (Foyer and Halliwell 1976, 1977)

Together, the results show that our sensitive assay enabled establishment of NAD and glutathione values in a large healthy population cohort, serving as a basis to interpret normal and abnormal values in whole-blood samples

This resulted from ectopic storage of fat in the heart, where cardiomyocyte TAG levels were found to have increased twentyfold by 12 weeks of age

Am J Clin Nutr 57 , 779S785S