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
Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD.
Zhang B et al.
Orphanet Journal of Rare Diseases, 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
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
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
Investigation of adult-onset multiple acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.
Huang K et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
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
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
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
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
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.
Wen B et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010