• (18)F-FDG muscular superscan associated with lipid storage myopathy
• ¹⁸F-FDG muscular superscan associated with lipid storage myopathy
• A 61-Year-Old Woman with Muscle Fatigue and Increased Cardiac Troponin
• A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene
• A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene
• A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency
• A novel homozygous missense mutation in <em>PNPLA2</em> in a patient manifesting primary triglyceride deposit cardiomyovasculopathy
• A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy
• Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study
• Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD)
• Analysis of ETFDH gene variation in a Chinese family affected with lipid storage myopathy
• Analysis of lipid profile in lipid storage myopathy
• Approach to the diagnosis of metabolic myopathies
• Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review
• Case report: Novel <em>ETFDH</em> compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II
• Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy
• Chanarin-Dorfman Syndrome: A Neutral Lipid Storage Disease With Ichthyosis and Liver Cirrhosis
• Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
• CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency
• Clinical and pathological features of immune-mediated necrotising myopathies in a single-centre muscle biopsy cohort
• Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to <em>ETFDH</em> Mutations in Five Patients: A Case Series
• Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study
• COASY variant as a new genetic cause of riboflavin-responsive lipid storage myopathy
• Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A
• Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II
• Detection of <em>FLAD1</em> mutations and lipid storage myopathy in a 5-year-old boy: a case report study
• Detection of FLAD1 mutations and lipid storage myopathy in a 5-year-old boy: a case report study
• Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency
• Diagnosis and management of metabolic myopathies
• Dietary intervention rescues myopathy associated with neurofibromatosis type 1
• Effect of freezing on the quality of breast meat from broilers affected by wooden breast myopathy
• Effects of Moderate-Intensity Physical Training on Skeletal Muscle Substrate Transporters and Metabolic Parameters of Ovariectomized Rats
• Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients
• ETF dehydrogenase advances in molecular genetics and impact on treatment
• FDG PET/CT of Metabolic Myopathy With Posttreatment Follow-up
• Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations
• HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy
• Ichthyosis, cataracts, and motor delay in an infant: A case of Chanarin-Dorfman syndrome
• Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants
• Influences of Thermal Stress During Three Weeks Before Market Age on Histology and Expression of Genes Associated With Adipose Infiltration and Inflammation in Commercial Broilers, Native Chickens, and Crossbreeds
• Intertubular morphometric and ultrastructural testes analyses in mdx mice
• Investigation of adult-onset multiple acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy
• Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the <em>ACADVL</em> Gene
• Late onset of neutral lipid storage disease due to a rare PNPLA2 mutation in a patient with myopathy and cardiomyopathy
• Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis
• Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report
• Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations
• Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report
• Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency
• Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature
• Lipolysis and lipophagy in lipid storage myopathies
• Lipophagy in nonliver tissues and some related diseases: Pathogenic and therapeutic implications
• Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report
• Metabolic Encephalopathy and Lipid Storage Myopathy Associated with a Presumptive Mitochondrial Fatty Acid Oxidation Defect in a Dog
• Metabolic Myopathies
• Metabolic Myopathies in the Era of Next-Generation Sequencing
• Mitochondrial dysfunction in human skeletal muscle biopsies of lipid storage disorder
• Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort
• Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Is Associated with Sertraline Use - Is There an Acquired Form?
• Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult
• Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran
• Muscle MRI-Based Atrophy Pattern Recognition: Notable Findings in a Case of Pathologically Proven Lipid Storage Myopathy
• Mutation Spectrum of Primary Lipid Storage Myopathies
• Needle EMG, a Jigsaw to Disclose Lipid Storage Myopathy Due to Multiple Acyl-CoA Dehydrogenase Deficiency
• Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors
• Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report
• Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant
• Neutral lipid storage disease with myopathy: A 10-year follow-up case report
• Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients
• Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant
• New perspectives in late-onset multiple acyl-CoA dehydrogenase deficiency: Clinical and genetic findings
• Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China
• Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature
• Oxidative stability of white striping chicken breasts: effect of cold storage and heat treatments
• Pathogenic variants of Valosin-containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells
• Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report
• Persistent hypoglycemia associated with lipid storage myopathy in a paint foal
• Phenotypic characteristics of peripheral immune cells of Myalgic encephalomyelitis/chronic fatigue syndrome via transmission electron microscopy: A pilot study
• Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy
• Proximal myopathy: causes and associated conditions
• Ranolazine-induced lipid storage myopathy presenting with respiratory failure and head drop
• Refractory Hyperlactatemia with Organ Insufficiency in Lipid Storage Myopathy
• Retrograde response to mitochondrial dysfunctions associated to LOF variations in <em>FLAD1</em> exon 2: unraveling the importance of RFVT2
• Riboflavin-responsive lipid-storage myopathy in elderly patients
• Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation
• Safety of COVID-19 vaccines in children with inborn errors of metabolism in terms of developing metabolic decompensation
• Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency
• Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency
• Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations
• Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin
• Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
• The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China
• The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis
• The Multifaceted Cause of Lipid Storage Myopathies, Genetics, and Treatment
• The Relationship of Cholangiocarcinoma with Human Immunodeficiency Virus Cholangiopathy and Cytomegalovirus Infection
• Towards values-based healthcare for inherited metabolic disorders: An overview of current practices for persons with liver glycogen storage disease and fatty acid oxidation disorders
• Two cases of glutaric aciduria type II: how to differentiate from inflammatory myopathies?
• Two novel ETFDH mutations in a patient with lipid storage myopathy
• Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report
• Unusual phenotype of myopathy associated with a new PNPLA2 mutation