A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency
Author:
Funder
Medical Research Council
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference19 articles.
1. Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: glutaric acidemia type II;Frerman,2001
2. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency;Liang;Neuromuscul. Disord.,2009
3. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency;Grünert;Orphanet J. Rare Dis.,2014
4. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency;Olsen;Brain,2007
5. Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2;Yotsumoto;Mol. Genet. Metab.,2011
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1. A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases;Molecular Genetics & Genomic Medicine;2024-07
2. Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study;Orphanet Journal of Rare Diseases;2024-01-14
3. Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study;2023-08-17
4. Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency;Frontiers in Pediatrics;2023-01-04
5. A novel deleterious ETFA promoter variant causative of multiple acyl‐CoA dehydrogenase deficiency;American Journal of Medical Genetics Part A;2022-12-28
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