Associated Papers
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Hao C et al.
Communications Medicine, 2025
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
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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
The difference of variation types between late-onset multiple acyl-CoA dehydrogenase deficiency patients carrying biallelic and single heterozygous variations in ETFDH: a systematic review and meta-analysis.
Zhang H et al.
Orphanet Journal of Rare Diseases, 2025
Lipid deposition myopathy due to compound heterozygous mutation in the ETFDH gene: a case report.
Li Y et al.
Rheumatology Advances in Practice, 2025
Adolescent late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting with severe multi-organ failure: a case report.
Zhao Y et al.
Frontiers in Pediatrics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
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
Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.
Xu X et al.
Bmc Medical Genomics, 2024
Fatal multiple acyl-CoA dehydrogenase deficiency caused by ETFDH gene mutation: A case report.
Li XX et al.
World Journal of Clinical Cases, 2024
Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort.
Schee JP et al.
Journal of Clinical Neurology (seoul, Korea), 2024
[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].
Hou W et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
The presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice.
Liu J et al.
Clinical Biochemistry, 2024
The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.
Ma J et al.
Orphanet Journal of Rare Diseases, 2024
Newborn screening for fatty acid oxidation disorders in a southern Chinese population.
Lin Y et al.
Heliyon, 2024
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Zhang L et al.
Journal of Human Genetics, 2023
Hyperhomocysteinemia in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Zhang H et al.
Muscle & Nerve, 2023
A rare condition that mimic myopathy: Late-onset glutaric acidaemia type II.
Liu J et al.
Rheumatology and Immunology Research, 2023
Case report: Novel ETFDH compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II.
Zhu S et al.
Frontiers in Neurology, 2023
A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations.
Zhang T et al.
Human Mutation, 2023
Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype.
Yamada K et al.
Molecular Genetics and Metabolism Reports, 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
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
Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report.
Tian H et al.
Frontiers in Neurology, 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
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
Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series.
Tang Z et al.
Frontiers in Neurology, 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
A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene.
Wu Y et al.
The Journal of International Medical Research, 2020
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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 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
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
[Analysis of ETFDH gene variation in a Chinese family affected with lipid storage myopathy].
Xia Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Chen HZ et al.
Chinese Medical Journal, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Multiple Acyl-CoA Dehydrogenase Deficiency in an Infant.
Hu XM et al.
Indian Journal of Pediatrics, 2019
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang W et al.
Bmc Medical Genetics, 2019
ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency.
Xu J et al.
Annals of Neurology, 2018
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Fan X et al.
Molecular Genetics and Metabolism Reports, 2018
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
Goh LL et al.
Bmc Medical Genomics, 2018
A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Chen M et al.
The International Journal of Neuroscience, 2018
Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II.
Xue Y et al.
Lipids in Health and Disease, 2017