ArticleEuropean journal of translational myology2020
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients.
Article in European journal of translational myology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.
- Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review.Journal of inherited metabolic disease · 2026Pooled it
- 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 · 2024Review
- Effects of an exogenous ketone ester using multi-omics in skeletal muscle of aging C57BL/6J male mice.Frontiers in nutrition · 2022Article
- Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies.Genes · 2021Article
- Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy.Journal of personalized medicine · 2020Article
- Sporadic late onset nemaline myopathy with monoclonal gammopathy of undetermined significance: two cases with long term stability.European journal of translational myology · 2020Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare fatty acids oxidation disorder which is often associated with deficiency of electron transfer flavoprotein dehydrogenase (ETFDH). In this study we reported clinical features and evaluation of expression profile of circulating muscle-specific miRNAs (myomiRs) in two MADD patients carrying different ETFDH gene mutations. Patient 1 was a compound heterozygote for two missense mutations. She showed a late onset MADD clinical phenotype and a significant increase of serum myomiRs. Patient 2, carrying a missense and a frameshift mutation, displayed early onset symptoms and a slight increase of some serum myomiRs.
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