A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
Author:
Affiliation:
1. Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, P.R. China
Funder
Youth Fund of Zhengzhou University First Affiliated Hospital
Publisher
Informa UK Limited
Subject
General Medicine,General Neuroscience
Link
https://www.tandfonline.com/doi/pdf/10.1080/00207454.2017.1380641
Reference13 articles.
1. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts.
2. Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II.
3. Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis
4. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
5. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
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2. Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience;Molecular Genetics and Metabolism Reports;2020-09
3. Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations;BMC Neurology;2019-12
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5. Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases;Annals of Laboratory Medicine;2018-11-28
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