Signe Mosegaard
Arhus, Denmark
Last Updated: 09/26/2026
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Found 8 publications
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Journal: Genome medicine
Published: May 17, 2021
Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
Journal: Journal of inherited metabolic disease
Published: November 11, 2020
Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.
Journal: International journal of molecular sciences
Published: April 30, 2020
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Journal: Molecular genetics & genomic medicine
Published: May 06, 2019
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.
Journal: Clinical genetics
Published: July 12, 2018
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Journal: Molecular genetics and metabolism
Published: September 01, 2017
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Journal: American journal of human genetics
Published: January 22, 2016
Showing 1-8 of 8
Last Updated: 09/26/2026