Associated Papers
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
Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.
Xu X et al.
Bmc Medical Genomics, 2024
[Analysis of clinical features and genetic variants in three children with late-onset Multiple acyl-Coenzyme A dehydrogenase deficiency].
Wang M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Hyperhomocysteinemia in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Zhang H et al.
Muscle & Nerve, 2023
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
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 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
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Missaglia S et al.
Critical Reviews in Biochemistry and Molecular Biology, 2021
Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study.
Han J et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019
Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report.
Hong D et al.
Bmc Neurology, 2018
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
Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.
Wen B et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure.
Izumi R et al.
Internal Medicine (tokyo, Japan), 2011
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.
Wen B et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010