Mari Oppeboen
Oslo, Norway
Last Updated: 09/26/2026
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Found 13 publications
Biallelic SUPT4H1 variants cause a multisystem neurodevelopmental disorder associated with disrupted transcription.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 15, 2025
The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism.
Journal: Molecular genetics and metabolism
Published: October 18, 2024
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Journal: Molecular genetics and metabolism
Published: November 17, 2023
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Journal: Molecular genetics and metabolism
Published: July 15, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
Journal: Journal of inherited metabolic disease
Published: May 24, 2023
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Journal: Molecular genetics and metabolism
Published: March 14, 2023
Increased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome: New Findings Using Untargeted Metabolomics.
Journal: Pediatric neurology
Published: November 07, 2022
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
Journal: Journal of inherited metabolic disease
Published: May 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Journal: Nature communications
Published: December 09, 2020
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Journal: Journal of inherited metabolic disease
Published: October 30, 2020
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
Journal: Journal of inherited metabolic disease
Published: March 10, 2020
Troublesome eye movements.
Journal: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
Published: September 27, 2019
Last Updated: 09/26/2026