Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.
Lin DF et al.
Bmc Medical Genomics, 2025
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.
Seyedtaghia MR et al.
Molecular Genetics & Genomic Medicine, 2024
An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis.
Herrero Martín JC et al.
Nature Metabolism, 2024
38243131 (PubMed )
Supplement: 42255_2023_956_MOESM1_ESM.pdf
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Béhin A et al.
Revue Neurologique, 2016
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
Grünert SC
Orphanet Journal of Rare Diseases, 2014
25200064 (PubMed )
Supplement: s13023-014-0117-5-S1.doc
Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.
Pollard LM et al.
Journal of Child Neurology, 2010
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