Disease on EC 1.5.5.1 - electron-transferring-flavoprotein dehydrogenase
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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.
Acidosis
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Acidosis
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.
acyl-coa dehydrogenase deficiency
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.
acyl-coa dehydrogenase deficiency
A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene.
acyl-coa dehydrogenase deficiency
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.
acyl-coa dehydrogenase deficiency
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
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.
acyl-coa dehydrogenase deficiency
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
acyl-coa dehydrogenase deficiency
Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency.
acyl-coa dehydrogenase deficiency
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Characterizing the transcriptional regulation of let-721, a Caenorhabditis elegans homolog of human electron flavoprotein dehydrogenase.
acyl-coa dehydrogenase deficiency
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
acyl-coa dehydrogenase deficiency
Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid ?-oxidation, and attenuates NLRP3 inflammasome activation.
acyl-coa dehydrogenase deficiency
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients.
acyl-coa dehydrogenase deficiency
Electron transfer flavoprotein deficiency: functional and molecular aspects.
acyl-coa dehydrogenase deficiency
ETF dehydrogenase advances in molecular genetics and impact on treatment.
acyl-coa dehydrogenase deficiency
ETF-QO Mutants Uncoupled Fatty Acid ?-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.
acyl-coa dehydrogenase deficiency
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
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.
acyl-coa dehydrogenase deficiency
High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.
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.
acyl-coa dehydrogenase deficiency
Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.
acyl-coa dehydrogenase deficiency
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
acyl-coa dehydrogenase deficiency
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.
acyl-coa dehydrogenase deficiency
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
acyl-coa dehydrogenase deficiency
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.
acyl-coa dehydrogenase deficiency
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
acyl-coa dehydrogenase deficiency
Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
acyl-coa dehydrogenase deficiency
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
acyl-coa dehydrogenase deficiency
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.
acyl-coa dehydrogenase deficiency
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
acyl-coa dehydrogenase deficiency
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin.
acyl-coa dehydrogenase deficiency
Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool.
acyl-coa dehydrogenase deficiency
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
acyl-coa dehydrogenase deficiency
The electron transfer flavoprotein: Ubiquinone oxidoreductases.
acyl-coa dehydrogenase deficiency
[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.
carnitine o-palmitoyltransferase deficiency
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
Congenital Abnormalities
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
Congenital Abnormalities
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.
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.
electron-transferring-flavoprotein dehydrogenase deficiency
Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency.
electron-transferring-flavoprotein dehydrogenase deficiency
Defects of fatty-acid oxidation in muscle.
electron-transferring-flavoprotein dehydrogenase deficiency
Electron transfer flavoprotein deficiency: functional and molecular aspects.
electron-transferring-flavoprotein dehydrogenase deficiency
ETF dehydrogenase advances in molecular genetics and impact on treatment.
electron-transferring-flavoprotein dehydrogenase deficiency
Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes.
electron-transferring-flavoprotein dehydrogenase deficiency
Glutaric aciduria type 2, late onset type in Thai siblings with myopathy.
electron-transferring-flavoprotein dehydrogenase deficiency
Glutaric aciduria type II: autopsy study of a case with electron-transferring flavoprotein dehydrogenase deficiency.
electron-transferring-flavoprotein dehydrogenase deficiency
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
electron-transferring-flavoprotein dehydrogenase deficiency
Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.
electron-transferring-flavoprotein dehydrogenase deficiency
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.
electron-transferring-flavoprotein dehydrogenase deficiency
Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II.
electron-transferring-flavoprotein dehydrogenase deficiency
The Colorado mental retardation and developmental disabilities research center.
electron-transferring-flavoprotein dehydrogenase deficiency
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
electron-transferring-flavoprotein dehydrogenase deficiency
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
electron-transferring-flavoprotein dehydrogenase deficiency
[Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis.]
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.
Hypoglycemia
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.
Hypoglycemia
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Hypoglycemia
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.
Ichthyosis
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.
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.
medium-chain acyl-coa dehydrogenase deficiency
[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.
Metabolic Diseases
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
Metabolic Diseases
Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool.
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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A new variant of glutaric aciduria type II: deficiency of beta-subunit of electron transfer flavoprotein.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A 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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2.
Multiple Acyl Coenzyme A 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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Assignment of electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) to human chromosome 4q33 by fluorescence in situ hybridization and somatic cell hybridization.
Multiple Acyl Coenzyme A 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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Characterization of a mutation that abolishes quinone reduction by electron transfer flavoprotein-ubiquinone oxidoreductase.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Characterizing the transcriptional regulation of let-721, a Caenorhabditis elegans homolog of human electron flavoprotein dehydrogenase.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid ?-oxidation, and attenuates NLRP3 inflammasome activation.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Defects of fatty-acid oxidation in muscle.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Electron transfer flavoprotein deficiency: functional and molecular aspects.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
ETF-QO Mutants Uncoupled Fatty Acid ?-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Glutaric aciduria type 2, late onset type in Thai siblings with myopathy.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Glutaric aciduria type II: autopsy study of a case with electron-transferring flavoprotein dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Human cDNA encoding ETF dehydrogenase (ETF:ubiquinone oxido-reductase), and mutations in glutaric acidemia type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Identification of the D-enantiomer of 2-hydroxyglutaric acid in glutaric aciduria type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A 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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Late-onset form of beta-electron transfer flavoprotein deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
MR imaging findings of glutaric aciduria type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A 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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Prenatal and foetal autopsy findings in glutaric aciduria type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (beta-subunit) deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Recent progress in understanding glutaric acidemias.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Role of RNA in Molecular Diagnosis of MADD Patients.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Subacute myopathy in a mature patient due to multiple acyl-coenzyme A dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
The diagnostic potential of targeted imaging of the fetal pancreas.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
The electron transfer flavoprotein: Ubiquinone oxidoreductases.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase deficiency].
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Clinical features and ETFDH mutations of children with late-onset glutaric aciduria type II: a report of two cases].
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[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.
Muscle Weakness
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Muscle Weakness
Clinical and muscle magnetic resonance image findings in patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Muscle Weakness
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.
Muscle Weakness
[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.
Muscular Diseases
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Muscular Diseases
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.
Muscular Diseases
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Muscular Diseases
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.
Muscular Diseases
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
Muscular Diseases
Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.
Muscular Diseases
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
Muscular Diseases
Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.
Muscular Diseases
Riboflavin responsive lipid storage myopathy caused by ETFDH gene mutations.
Muscular Diseases
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Muscular Diseases
Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.
Muscular Diseases
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin.
Muscular Diseases
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
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
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.
Neoplasms
[Proteomic analysis of morphine rabbit myocardium with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry]
Perinatal Death
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
pyruvate dehydrogenase (nadp+) deficiency
[Inborn errors of metabolism in adult neurology].
Pyruvate Dehydrogenase Complex Deficiency 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).
Starvation
The critical role of Arabidopsis electron-transfer flavoprotein:ubiquinone oxidoreductase during dark-induced starvation.
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