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
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
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
New insight in lipid storage myopathy.
Wen B et al.
Neuromuscular Disorders : Nmd, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
A novel ETFDH mutation identified in a patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Ou Y et al.
Intractable & Rare Diseases Research, 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
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
[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
Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort.
Schee JP et al.
Journal of Clinical Neurology (seoul, Korea), 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
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
Hyperhomocysteinemia in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Zhang H et al.
Muscle & Nerve, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 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
Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency.
Yuan G et al.
Frontiers in Pediatrics, 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
Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.
Lin Y et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 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
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report.
Pan XQ et al.
World Journal of Clinical Cases, 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
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
ETF-QO Mutants Uncoupled Fatty Acid β-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.
Chokchaiwong S et al.
Cells, 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
Next-generation sequencing as a second-tier diagnostic test for newborn screening.
Luo X et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 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
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Hui J et al.
Pathology, 2014
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
Grünert SC
Orphanet Journal of Rare Diseases, 2014
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Xi J et al.
Journal of Inherited Metabolic Disease, 2014
Newborn Screening for Glutaric Aciduria-II: The New England Experience.
Sahai I et al.
Jimd Reports, 2014