Fletta eftir efnisorði "Biochemistry, Genetics and Molecular Biology (miscellaneous)"

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Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants

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 ...
Use of Elamipretide in patients assigned treatment in the compassionate use program : Case series in pediatric patients with rare orphan diseases

Koenig, Mary Kay; Russo, Sam Nick; McBride, Kim L.; Björnsson, Hans Tómas; Gunnarsdottir, Brynja Bjork; Goldstein, Amy; Falk, Scott A. (2023-01)

Several mitochondrial diseases are caused by pathogenic variants that impair membrane phospholipid remodeling, with no FDA-approved therapies. Elamipretide targets the inner mitochondrial membrane where it binds to cardiolipin, resulting in improved ...

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