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Inherited metabolic disorders represent a heterogeneous collection of genetic diseases caused by rare mutations that affect the function of individual proteins. In our laboratory we are interested in using NMR spectroscopy for the early detection of inborn errors of metabolism and to explore the mechanism and therapeutic intervention in two metabolic rare diseases: congenital erythropoietic porphyria, a disorder of the heme biosynthetic pathway and tyrosinemia type I, a disease related to the accumulation of tyrosine by-products. To that end, we make use of a plethora of techniques including CRISPR/Cas9, specific animal models and in-house designed NMR-based metabolic and fluxomic experiments.

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