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Disease on EC 1.5.5.1 - electron-transferring-flavoprotein dehydrogenase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis
Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.
acyl-coa dehydrogenase deficiency
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.
A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene.
A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency.
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Characterizing the transcriptional regulation of let-721, a Caenorhabditis elegans homolog of human electron flavoprotein dehydrogenase.
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid ?-oxidation, and attenuates NLRP3 inflammasome activation.
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients.
Electron transfer flavoprotein deficiency: functional and molecular aspects.
ETF dehydrogenase advances in molecular genetics and impact on treatment.
ETF-QO Mutants Uncoupled Fatty Acid ?-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.
In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2.
Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency.
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
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.
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Role of RNA in Molecular Diagnosis of MADD Patients.
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin.
Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool.
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
The electron transfer flavoprotein: Ubiquinone oxidoreductases.
[A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase deficiency].
Appendicitis
Anesthetic management of a pediatric patient with Electron Transfer Flavoprotein Dehydrogenase deficiency (ETFDH) and acute appendicitis: case report and review of the literature.
beta-Thalassemia
Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature.
Carcinogenesis
Irradiation of rainbow trout at early life stages results in a proteomic legacy in adult gills. Part B; the effect of a second radiation dose, after one year, on the proteomic responses in the irradiated and non-irradiated bystander fish.
Carcinoma, Hepatocellular
Expression and significance of ETFDH in hepatocellular carcinoma.
carnitine o-palmitoyltransferase deficiency
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
Cerebellar Ataxia
Human CoQ10 deficiencies.
Congenital Abnormalities
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
Deficiency Diseases
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
Diabetic Nephropathies
The decreased expression of electron transfer flavoprotein ? is associated with tubular cell apoptosis in diabetic nephropathy.
Dyslexia
The Colorado mental retardation and developmental disabilities research center.
electron-transferring-flavoprotein dehydrogenase deficiency
Anesthetic management of a pediatric patient with Electron Transfer Flavoprotein Dehydrogenase deficiency (ETFDH) and acute appendicitis: case report and review of the literature.
Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency.
Defects of fatty-acid oxidation in muscle.
Electron transfer flavoprotein deficiency: functional and molecular aspects.
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes.
Glutaric aciduria type 2, late onset type in Thai siblings with myopathy.
Glutaric aciduria type II: autopsy study of a case with electron-transferring flavoprotein dehydrogenase deficiency.
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.
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.
Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II.
The Colorado mental retardation and developmental disabilities research center.
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
[Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis.]
Fabry Disease
[Inborn errors of metabolism in adult neurology].
Genetic Diseases, Inborn
ETF dehydrogenase advances in molecular genetics and impact on treatment.
glycerol kinase deficiency
The Colorado mental retardation and developmental disabilities research center.
Glycogen Storage Disease Type II
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
Hypoglycemia
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.
Ichthyosis
Clinical and genetic analysis of lipid storage myopathies.
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
Infections
Functional characterization of electron-transferring flavoprotein and its dehydrogenase required for fungal development and plant infection by the rice blast fungus.
Leukodystrophy, Metachromatic
[Inborn errors of metabolism in adult neurology].
Lipidoses
[Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis.]
medium-chain acyl-coa dehydrogenase deficiency
MR imaging findings of glutaric aciduria type II.
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
Meningitis
A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
Metabolic Diseases
Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool.
The electron transfer flavoprotein: Ubiquinone oxidoreductases.
Mitochondrial Myopathies
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Movement Disorders
Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.
A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene.
A new variant of glutaric aciduria type II: deficiency of beta-subunit of electron transfer flavoprotein.
A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2.
Anesthetic management of a pediatric patient with Electron Transfer Flavoprotein Dehydrogenase deficiency (ETFDH) and acute appendicitis: case report and review of the literature.
Assignment of electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) to human chromosome 4q33 by fluorescence in situ hybridization and somatic cell hybridization.
Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.
Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II.
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Characterization of a mutation that abolishes quinone reduction by electron transfer flavoprotein-ubiquinone oxidoreductase.
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency.
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Characterizing the transcriptional regulation of let-721, a Caenorhabditis elegans homolog of human electron flavoprotein dehydrogenase.
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid ?-oxidation, and attenuates NLRP3 inflammasome activation.
Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II.
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients.
Defects of fatty-acid oxidation in muscle.
Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts.
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.
Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.
Electron transfer flavoprotein deficiency: functional and molecular aspects.
ETF dehydrogenase advances in molecular genetics and impact on treatment.
ETF-QO Mutants Uncoupled Fatty Acid ?-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients.
Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.
Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes.
Glutaric aciduria type 2, late onset type in Thai siblings with myopathy.
Glutaric aciduria type II: autopsy study of a case with electron-transferring flavoprotein dehydrogenase deficiency.
Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase.
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Human cDNA encoding ETF dehydrogenase (ETF:ubiquinone oxido-reductase), and mutations in glutaric acidemia type II.
Identification of the D-enantiomer of 2-hydroxyglutaric acid in glutaric aciduria type II.
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.
In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2.
Late-onset form of beta-electron transfer flavoprotein deficiency.
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
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.
Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II, and identification of glycine substitution for valine 157, producing an unstable mature protein in a patient.
Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient.
Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.
MR imaging findings of glutaric aciduria type II.
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency.
Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II.
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II.
Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
Prenatal and foetal autopsy findings in glutaric aciduria type II.
Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (beta-subunit) deficiency.
Recent progress in understanding glutaric acidemias.
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.
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.
Role of RNA in Molecular Diagnosis of MADD Patients.
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin.
Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool.
Subacute myopathy in a mature patient due to multiple acyl-coenzyme A dehydrogenase deficiency.
Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase.
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
The diagnostic potential of targeted imaging of the fetal pancreas.
The electron transfer flavoprotein: Ubiquinone oxidoreductases.
The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
[A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase deficiency].
[Clinical features and ETFDH mutations of children with late-onset glutaric aciduria type II: a report of two cases].
[Paroxysmal muscle weakness, liver enlargement, and hypoglycemia in a boy].
Muscle Weakness
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Clinical and muscle magnetic resonance image findings in patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.
[Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis.]
Muscular Diseases
A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene.
Clinical and genetic analysis of lipid storage myopathies.
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Coenzyme Q deficiency in muscle.
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
Human CoQ10 deficiencies.
Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.
Riboflavin responsive lipid storage myopathy caused by ETFDH gene mutations.
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.
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
Two novel ETFDH mutations in a patient with lipid storage myopathy.
Muscular Dystrophies
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies.
Muscular Dystrophies, Limb-Girdle
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Myotonia Congenita
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Neoplasms
Expression and significance of ETFDH in hepatocellular carcinoma.
Irradiation of rainbow trout at early life stages results in a proteomic legacy in adult gills. Part B; the effect of a second radiation dose, after one year, on the proteomic responses in the irradiated and non-irradiated bystander fish.
[Proteomic analysis of morphine rabbit myocardium with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry]
Obesity
Proteomic analysis of mitochondrial proteins in a mouse model of type 2 diabetes.
Perinatal Death
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Peroxisomal Disorders
[Inborn errors of metabolism in adult neurology].
Pick Disease of the Brain
[Inborn errors of metabolism in adult neurology].
Porphyrias
[Inborn errors of metabolism in adult neurology].
pyruvate dehydrogenase (nadp+) deficiency
[Inborn errors of metabolism in adult neurology].
Pyruvate Dehydrogenase Complex Deficiency Disease
[Inborn errors of metabolism in adult neurology].
Refsum Disease
[Inborn errors of metabolism in adult neurology].
Respiratory Insufficiency
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.
Rhabdomyolysis
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.
Sepsis
A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
Sphingolipidoses
The Colorado mental retardation and developmental disabilities research center.
Starvation
Evaluation and validation of experimental condition-specific reference genes for normalization of gene expression in Asia II-I Bemisia tabaci (Gennadius) (Hemiptera: Aleyrodidae).
The critical role of Arabidopsis electron-transfer flavoprotein:ubiquinone oxidoreductase during dark-induced starvation.
Tangier Disease
[Inborn errors of metabolism in adult neurology].
Xanthomatosis, Cerebrotendinous
[Inborn errors of metabolism in adult neurology].