Associated Papers
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
Exposure to sertraline and ranolazine is common among adult patients with genetically uncharacterized lipid storage myopathy.
Jones FJS et al.
Journal of the Neurological Sciences, 2025
Management of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Pregnancy.
Shear MA et al.
Metabolites, 2025
Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort.
Schee JP et al.
Journal of Clinical Neurology (seoul, Korea), 2024
"Liver Failure in an Infant of Late-Onset Glutaric Aciduria Type II": Case Report.
Keshri S et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2023
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Missaglia S et al.
Critical Reviews in Biochemistry and Molecular Biology, 2021
Multiple acyl-CoA dehydrogenase deficiency (MADD) presenting as polymyositis.
Hong LE et al.
Rheumatology (oxford, England), 2020
Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.
Mosegaard S et al.
International Journal of Molecular Sciences, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
Chen W et al.
Bmc Neurology, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Metabolic lipid muscle disorders: biomarkers and treatment.
Angelini C et al.
Therapeutic Advances in Neurological Disorders, 2019
Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.
Yamada K et al.
Brain & Development, 2016
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
Grünert SC
Orphanet Journal of Rare Diseases, 2014
Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.
Cornelius N et al.
Human Molecular Genetics, 2013
Cyclic vomiting syndrome masking a fatal metabolic disease.
Fitzgerald M et al.
European Journal of Pediatrics, 2013
[Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults].
Yamada K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
Genetic and cellular modifiers of oxidative stress: what can we learn from fatty acid oxidation defects?
Olsen RK et al.
Molecular Genetics and Metabolism, 2013
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Cotelli MS et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2012
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.
Cornelius N et al.
Human Molecular Genetics, 2012
Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).
Trakadis Y et al.
Molecular Genetics and Metabolism, 2012
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Law LK et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Mitochondrial fatty acid oxidation defects--remaining challenges.
Gregersen N et al.
Journal of Inherited Metabolic Disease, 2008
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Yotsumoto Y et al.
Molecular Genetics and Metabolism, 2008
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
Gempel K et al.
Brain : a Journal of Neurology, 2007
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Olsen RK et al.
Brain : a Journal of Neurology, 2007
So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.
Beresford MW et al.
Neuromuscular Disorders : Nmd, 2006
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
Olsen RK et al.
Human Mutation, 2003