Associated Papers
Spinal Cord Involvement in Patients with Adult-Onset Multiple Acyl-CoA Dehydrogenase Deficiency.
Wang W et al.
Neuromolecular Medicine, 2026
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
Multiple Acyl-CoA Dehydrogenase Deficiency: A Rare Cause of Hepatomegaly.
Nana Sede Mbakop R et al.
Acg Case Reports Journal, 2023
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects.
Lupica A et al.
Frontiers in Neurology, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Missaglia S et al.
Critical Reviews in Biochemistry and Molecular Biology, 2021
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.
Siano MA et al.
Frontiers in Pediatrics, 2021
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.
Maguolo A et al.
Molecular Genetics and Metabolism Reports, 2020
32793418 (PubMed )
Supplement: mmc2.xlsx › Foglio1
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Macchione F et al.
Journal of Neurology, 2020
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Missaglia S et al.
Lipids in Health and Disease, 2018
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.
Angelini C et al.
Jimd Reports, 2018
Two novel mutations in phenylalanine hydroxylase gene and in vitro expression analysis on mutation Arg252Gln.
Zhang M et al.
Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 1997
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