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

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

Abstract 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 in MAOA need functional confirmation...

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Bibliographic Details
Main Authors: Tessa M. A. Peters, Irma Lammerts van Bueren, Ben P.B.H. Geurtz, Karlien L. M. Coene, Nicole deLeeuw, Han G. Brunner, Jón J. Jónsson, Michèl A. A. P. Willemsen, Ron A. Wevers, Marcel M. Verbeek
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:JIMD Reports
Subjects:
enzyme assay
functional confirmation
HPLC
MAO‐A deficiency
variant of uncertain significance
Online Access:https://doi.org/10.1002/jmd2.12194

Internet

https://doi.org/10.1002/jmd2.12194

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