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Servais A, Saitovitch A, Hummel A, Boisgontier J, Scemla A, Sberro-Soussan R, Snanoudj R, Lemaitre H, Legendre C, Pontoizeau C, Antignac C, Anglicheau D, Funalot B, Boddaert N (2020) Central nervous system complications in adult cystinosis patients
143,144 The mutated IDH1 and IDH2 proteins are endowed with a novel ability to catalyze the reduction of -KG to generate a rare metabolite, 2-hydroxyglutarate (2-HG), while consuming NADPH
They note that this would ensure accurate claims reporting and support reliable data for future ratesetting