Anja Seelhofer
Muenster, NW, Germany
Last Updated: 09/26/2026
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Found 9 publications
Ascorbate mitigates oxidative stress and hemin cytotoxicity in heme oxygenase-1 deficiency.
Journal: The Journal of biological chemistry
Published: April 15, 2025
Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro.
Journal: JIMD reports
Published: June 20, 2024
Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype.
Journal: Molecular genetics and metabolism reports
Published: September 09, 2023
Mitochondrial DNA mutations in Medulloblastoma.
Journal: Acta neuropathologica communications
Published: May 04, 2023
Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case Report.
Journal: Frontiers in neurology
Published: December 18, 2020
3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.
Journal: Journal of inherited metabolic disease
Published: October 30, 2020
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Journal: Brain : a journal of neurology
Published: January 18, 2019
Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I.
Journal: American journal of medical genetics. Part A
Published: January 02, 2019
News on Clinical Details and Treatment in PGM1-CDG.
Journal: JIMD reports
Published: February 10, 2015
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Last Updated: 09/26/2026