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Glutamate dehydrogenase hyperinsulinism (GDH-HI) is induced by mutations in the glutamate dehydrogenase 1 (GLUD1) gene, which through several pathways lead to augmentation of insulin release that is independent of extracellular glucose concentration

It is currently difficult to make recommendations for implementing acyl-carnitine measurement by LCMS/MS in clinical practice due to limited data on thresholds and acyl-carnitine types, as well as the methods cost, time requirements, and variability related to the standards used

Campos PMBGM, Franco RSB, Kakuda L, Cadioli GF, D Angelo Costa GM

Hypoxia and expression of hypoxia-inducible factor in the aging kidney