Page last updated: 2024-08-23

s-adenosylmethionine and Electron Transfer Flavoprotein Alpha Subunit Deficiency

s-adenosylmethionine has been researched along with Electron Transfer Flavoprotein Alpha Subunit Deficiency in 22 studies

Research

Studies (22)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (4.55)29.6817
2010's18 (81.82)24.3611
2020's3 (13.64)2.80

Authors

AuthorsStudies
Chen, D; Chen, Y; Fu, Q; Huang, C; Lin, Y; Peng, W; Zheng, W1
Künnapas, K; Lilleväli, H; Mosegaard, S; Muru, K; Nochi, Z; Olsen, RKJ; Õunap, K; Pajusalu, S; Reinson, K1
Hall, K; Hasadsri, L; Kimonis, V; Rose, L; Tang, S1
Chen, D; Chen, Z; Fu, Q; Lin, C; Lin, W; Lin, Y; Peng, W; Zhang, W1
De Bernardis, NP; Divers, TJ; Pinn, TL; Southard, T; Valberg, S; Wakshlag, JJ1
Kim, YJ; Ko, JM; Lee, KA; Song, J1
Cong, L; Hong, DJ; Liu, L; Zhang, J; Zhong, SS; Zhu, M; Zhu, ZJ1
Fukuda, S; Hasegawa, Y; Ito, M; Kobayashi, H; Taketani, T; Yamada, K; Yamaguchi, S1
Bosch, AM; de Boer, L; Derks, TGJ; Ferdinandusse, S; Giannopoulos, P; Huidekoper, HH; Rubio-Gozalbo, ME; Ruiter, JPN; van Rijt, WJ; Visser, G; Wanders, RJA; Williams, M1
Hussain, S; Prasad, M1
Fukuda, T; Hiroki, M; Ishii, A; Shigematsu, Y; Shioya, A; Sugie, H; Takuma, H; Tamaoka, A; Yamaguchi, S1
Li, D; Li, W; Wen, B; Yan, C; Zhao, Y1
Bo, R; Fukuda, S; Hasegawa, Y; Ishii, A; Kobayashi, H; Mizusawa, H; Ohkubo, T; Purevsuren, J; Shigematsu, Y; Shioya, A; Sugie, H; Takahashi, T; Taketani, T; Takuma, H; Tamaoka, A; Tsunemi, T; Watanabe, M; Yamada, K; Yamaguchi, S; Yokota, T1
Fu, HX; He, JJ; Jin, M; Lin, MT; Liu, XY; Wang, DN; Wang, N; Wang, ZQ1
Acquaviva-Bourdain, C; Attarian, S; Bassez, G; Béhin, A; Brivet, M; Eymard, B; Fouilhoux, A; Kaminsky, P; Labarre-Villa, A; Laforêt, P; Laquerrière, A; Pérard, L; Pouget, J; Rigal, O; Souvannanorath, S; Streichenberger, N; Vanhulle, C; Vianey-Saban, C1
Bo, R; Fukuda, S; Hasegawa, Y; Kobayashi, H; Mushimoto, Y; Purevsuren, J; Takahashi, T; Taketani, T; Yamada, K; Yamaguchi, S1
Hamilton-Craig, C; Marshall, GA; Mikli, JE; Nisbet, JC; Parsonage, WA1
Ali, DW; Balice-Gordon, RJ; Bennett, MJ; Coutts, C; Gibbs, S; Gregg, RG; Panzer, JA; Scherer, PC; Scott, MO; Selak, MA; Song, Y; Watson, CT; Willer, G1
Espinoza, L; Holden, KR; Pollard, LM; Schroer, RJ; Spector, EB; Williams, NR; Wood, TC1
Endo, M; Fukuda, S; Hasegawa, Y; Kobayashi, H; Li, H; Mushimoto, Y; Purevsuren, J; Yamaguchi, S; Yotsumoto, Y1
Akamizu, T; Ariyasu, H; Hosoda, H; Iwakura, H; Kangawa, K; Ohtake, A; Sakura, N; Shigematsu, Y; Tajima, G1
Alves, E; Gomes, CM; Henriques, BJ; Martinho, RG; Prudêncio, P; Rocha, H; Rodrigues, JV; Vilarinho, L1

Other Studies

22 other study(ies) available for s-adenosylmethionine and Electron Transfer Flavoprotein Alpha Subunit Deficiency

ArticleYear
Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.
    Clinica chimica acta; international journal of clinical chemistry, 2022, Dec-01, Volume: 537

    Topics: Electron-Transferring Flavoproteins; Genetic Testing; Humans; Infant, Newborn; Iron-Sulfur Proteins; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Mutation; Neonatal Screening; Oxidoreductases Acting on CH-NH Group Donors; Riboflavin

2022
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
    Molecular genetics & genomic medicine, 2019, Volume: 7, Issue:9

    Topics: Carnitine; Female; Humans; Infant, Newborn; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Mutation; Nucleotidyltransferases; Riboflavin

2019
Homozygous B4GALNT1 mutation and biochemical glutaric acidemia type II: A case report.
    Clinical neurology and neurosurgery, 2020, Volume: 189

    Topics: Adult; Carnitine; Epilepsy, Temporal Lobe; Female; Frameshift Mutation; Homozygote; Humans; Intellectual Disability; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; N-Acetylgalactosaminyltransferases; Spastic Paraplegia, Hereditary

2020
Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.
    Journal of pediatric endocrinology & metabolism : JPEM, 2021, May-26, Volume: 34, Issue:5

    Topics: Acyl-CoA Dehydrogenase; Asian People; Carnitine; China; Female; Follow-Up Studies; Genetic Testing; Genotype; Humans; Infant, Newborn; Male; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Mutation; Neonatal Screening; Prognosis

2021
Persistent hypoglycemia associated with lipid storage myopathy in a paint foal.
    Journal of veterinary internal medicine, 2018, Volume: 32, Issue:4

    Topics: Animals; Carnitine; Diagnosis, Differential; Fatal Outcome; Female; Horse Diseases; Horses; Hypoglycemia; Lipid Metabolism, Inborn Errors; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscular Dystrophies

2018
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
    Annals of laboratory medicine, 2018, Volume: 38, Issue:6

    Topics: Asian People; Base Sequence; Carnitine; Dietary Supplements; DNA Mutational Analysis; Electron-Transferring Flavoproteins; Gene Deletion; Humans; Infant, Newborn; Iron-Sulfur Proteins; Male; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Oxidoreductases Acting on CH-NH Group Donors; Pedigree; Republic of Korea; Riboflavin; Tandem Mass Spectrometry

2018
Clinical and muscle magnetic resonance image findings in patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
    Chinese medical journal, 2019, Feb-05, Volume: 132, Issue:3

    Topics: Adolescent; Adult; Biopsy; Carnitine; Electron-Transferring Flavoproteins; Female; Hamstring Muscles; Humans; Iron-Sulfur Proteins; Magnetic Resonance Imaging; Male; Middle Aged; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscle, Skeletal; Oxidoreductases Acting on CH-NH Group Donors; Retrospective Studies; Young Adult

2019
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
    Brain & development, 2019, Volume: 41, Issue:7

    Topics: Acyl Coenzyme A; Carnitine; Child, Preschool; Codon, Nonsense; Electron-Transferring Flavoproteins; Flavin-Adenine Dinucleotide; Humans; Male; Membrane Transport Proteins; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Mutation; Receptors, G-Protein-Coupled; Riboflavin

2019
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
    Journal of inherited metabolic disease, 2019, Volume: 42, Issue:5

    Topics: Carnitine; Fatty Acids; Female; Humans; Infant, Newborn; Male; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Retrospective Studies; Severity of Illness Index

2019
Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager.
    Journal of child neurology, 2015, Volume: 30, Issue:1

    Topics: Adolescent; Carnitine; Humans; Male; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscular Diseases; Rhabdomyolysis

2015
Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase (ETFDH) gene.
    Journal of the neurological sciences, 2014, Nov-15, Volume: 346, Issue:1-2

    Topics: Adult; Bezafibrate; Carnitine; Drug Therapy, Combination; Electron-Transferring Flavoproteins; Humans; Hypolipidemic Agents; Iron-Sulfur Proteins; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Mutation; Oxidoreductases Acting on CH-NH Group Donors; Riboflavin; Treatment Outcome

2014
Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.
    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015, Volume: 36, Issue:6

    Topics: Acyl Coenzyme A; Carnitine; DNA Mutational Analysis; Electron-Transferring Flavoproteins; Humans; Iron-Sulfur Proteins; Male; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscle, Skeletal; Mutation; Oxidoreductases Acting on CH-NH Group Donors; Young Adult

2015
Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.
    Brain & development, 2016, Volume: 38, Issue:3

    Topics: Adult; Age Factors; Carnitine; Humans; Male; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscle Weakness; Muscular Diseases

2016
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016, Volume: 37, Issue:7

    Topics: Adolescent; Adult; Aged; Carnitine; Computational Biology; DNA Mutational Analysis; Electron-Transferring Flavoproteins; Genotype; Humans; Iron-Sulfur Proteins; Magnetic Resonance Imaging; Male; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscle Weakness; Muscular Diseases; Mutation; Oxidoreductases Acting on CH-NH Group Donors

2016
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
    Revue neurologique, 2016, Volume: 172, Issue:3

    Topics: Adult; Age of Onset; Biopsy; Carnitine; Electromyography; Electron-Transferring Flavoproteins; Exercise; Female; France; Humans; Iron-Sulfur Proteins; Lipid Metabolism, Inborn Errors; Male; Middle Aged; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscle, Skeletal; Mutation; Neuromuscular Diseases; Oxidation-Reduction; Oxidoreductases Acting on CH-NH Group Donors; Rhabdomyolysis; Young Adult

2016
Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay.
    Brain & development, 2017, Volume: 39, Issue:1

    Topics: Adolescent; Adult; Age of Onset; Bezafibrate; Carnitine; Cell Survival; Cells, Cultured; Dose-Response Relationship, Drug; Drug Evaluation, Preclinical; Enzyme Activators; Female; Fibroblasts; Humans; Infant; Infant, Newborn; Lipid Regulating Agents; Male; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Palmitoylcarnitine; Peroxisome Proliferator-Activated Receptors; Skin

2017
A 61-Year-Old Woman with Muscle Fatigue and Increased Cardiac Troponin.
    Clinical chemistry, 2017, Volume: 63, Issue:1

    Topics: Carnitine; Creatine Kinase; Female; Humans; Lipid Metabolism, Inborn Errors; Middle Aged; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscle Fatigue; Muscle, Skeletal; Muscular Dystrophies; Necrosis; Troponin I; Troponin T

2017
Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).
    PloS one, 2009, Dec-17, Volume: 4, Issue:12

    Topics: Animals; Carboxylic Acids; Carnitine; Cell Proliferation; Cloning, Molecular; Electron-Transferring Flavoproteins; Enzyme Activation; Extracellular Signal-Regulated MAP Kinases; Fibroblasts; Glycolysis; Humans; Infant; Infant, Newborn; Iron-Sulfur Proteins; Mitochondria; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Mutation; Nervous System; Neurons; Oligonucleotides, Antisense; Oxidoreductases Acting on CH-NH Group Donors; Peroxisome Proliferator-Activated Receptors; Phenotype; Zebrafish

2009
Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.
    Journal of child neurology, 2010, Volume: 25, Issue:8

    Topics: Brain Diseases, Metabolic; Carnitine; Child; Child, Preschool; Developmental Disabilities; Female; Humans; Male; Mass Screening; Metabolic Diseases; Multiple Acyl Coenzyme A Dehydrogenase Deficiency

2010
In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2.
    Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2010, Jun-15, Volume: 878, Issue:20

    Topics: Carnitine; Case-Control Studies; Cells, Cultured; Fibroblasts; Humans; Molecular Structure; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Spectrometry, Mass, Electrospray Ionization

2010
Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II.
    European journal of endocrinology, 2012, Volume: 166, Issue:2

    Topics: Acyl-CoA Dehydrogenase; Adult; Blood Chemical Analysis; Carnitine; Case-Control Studies; Child; Child, Preschool; Chromatography, High Pressure Liquid; Female; Ghrelin; Humans; Lipid Metabolism, Inborn Errors; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Protein Processing, Post-Translational; Young Adult

2012
Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila.
    Biochimica et biophysica acta, 2012, Volume: 1822, Issue:8

    Topics: Alleles; Amino Acid Sequence; Animals; Binding Sites; Carnitine; Drosophila; Electron-Transferring Flavoproteins; Flavin-Adenine Dinucleotide; Flavins; Genotype; Models, Molecular; Molecular Sequence Data; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Mutation; Phenotype

2012