Mari Oppebøen

<scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

Toni S. Pearson, Laura Gilbert, Thomas Opladen et al. · Journal of Inherited Metabolic Disease · 2020 · 88 citations · Full text

Medicine, Human Development, Pediatrics +12

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Oya Kuseyri Hübschmann, Gabriella Horváth, Elisenda Cortès‐Saladelafont et al. · Nature Communications · 2021 · 42 citations · Full text

Medicine, Neuroscience, Pediatrics +17

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel et al. · Molecular Genetics and Metabolism · 2023 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Brain <scp>MR</scp> patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

Oya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman et al. · Journal of Inherited Metabolic Disease · 2021 · 17 citations · Full text

Medicine, Neurology, Neuroscience +15

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

Itay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau et al. · Molecular Genetics and Metabolism · 2024 · 11 citations · Full text

Life Sciences, Biochemistry, Clinical Biochemistry +10