Associated Papers
Spinal Cord Involvement in Patients with Adult-Onset Multiple Acyl-CoA Dehydrogenase Deficiency.
Wang W et al.
Neuromolecular Medicine, 2026
Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy.
He QF et al.
European Journal of Neurology, 2025
Genotype-Phenotype Correlation of ETF Dehydrogenase Gene-Related Multiple Acyl-CoA Dehydrogenation Deficiency in Chinese Patients.
Liang H et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis.
Mirlohi SH et al.
Respiratory Medicine Case Reports, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
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
Newborn screening for fatty acid oxidation disorders in a southern Chinese population.
Lin Y et al.
Heliyon, 2024
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S et al.
Molecular Genetics & Genomic Medicine, 2023
Successful pregnancy in a patient with multiple acyl-CoA dehydrogenase deficiency.
Baonza G et al.
Endocrinologia, Diabetes Y Nutricion, 2023
Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.
Lin Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.
Ambrose A et al.
Orphanet Journal of Rare Diseases, 2022
The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.
Han J et al.
Turkish Journal of Medical Sciences, 2022
Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency
Zhang J et al.
Balkan Medical Journal, 2022
Combined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis.
Tummolo A et al.
Jimd Reports, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.
Wen B et al.
Human Molecular Genetics, 2022
Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.
Zhou D et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2021
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 with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.
Staretz-Chacham O et al.
Genes, 2021
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
Liu XY et al.
Journal of Inherited Metabolic Disease, 2021
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
Ding M et al.
Medicine, 2020
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Adhikari AN et al.
Nature Medicine, 2020
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
Needle EMG, a Jigsaw to Disclose Lipid Storage Myopathy Due to Multiple Acyl-CoA Dehydrogenase Deficiency.
Santananukarn M et al.
American Journal of Physical Medicine & Rehabilitation, 2020
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Fan X et al.
Molecular Genetics and Metabolism Reports, 2018
Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay.
Yamada K et al.
Brain & Development, 2017
Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.
Liu XY et al.
Chinese Medical Journal, 2016
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Béhin A et al.
Revue Neurologique, 2016
A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.
Liu XY et al.
Chinese Medical Journal, 2016
Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.
Whitaker CH et al.
Muscle & Nerve, 2015
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
Grünert SC
Orphanet Journal of Rare Diseases, 2014
Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.
Zhu M et al.
Journal of Human Genetics, 2014
Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.
Wen B et al.
Molecular Genetics and Metabolism, 2013
Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).
Trakadis Y et al.
Molecular Genetics and Metabolism, 2012
Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif.
Er TK et al.
Bmc Structural Biology, 2011
Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.
Wang ZQ et al.
Journal of Molecular Medicine (berlin, Germany), 2011
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
Lan MY et al.
Clinical Genetics, 2010
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Ishii K et al.
Brain & Development, 2010
High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Er TK et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
[Multiple acyl-CoA dehydrogenase deficiency (MADD): a curable cause of genetic muscular lipidosis].
Maillart E et al.
Revue Neurologique, 2010
Clinical and genetic analysis of lipid storage myopathies.
Ohkuma A et al.
Muscle & Nerve, 2009
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Liang WC et al.
Neuromuscular Disorders : Nmd, 2009
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Yotsumoto Y et al.
Molecular Genetics and Metabolism, 2008
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