Opin vísindi

Browsing by Subject "enzyme assay"

Browsing by Subject "enzyme assay"

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  • Peters, Tessa M.A.; Lammerts van Bueren, Irma; Geurtz, Ben P.B.H.; Coene, Karlien L.M.; de Leeuw, Nicole; Brunner, Han G.; Jónsson, Jón Jóhannes; Willemsen, Michèl A.A.P.; Wevers, Ron A.; Verbeek, Marcel M. (2020-12-28)
    Monoamine oxidase A (MAO‐A) deficiency is a rare inborn error of metabolism with impaired degradation of biogenic amines including 5‐hydroxytryptamine (5‐HT), resulting in borderline intellectual disability and behavioral abnormalities. Genetic variants ...