Compounds > s-adenosylmethionine
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s-adenosylmethionine and Muscle Disorders

s-adenosylmethionine has been researched along with Muscle Disorders in 39 studies

Research

Studies (39)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (5.13)18.2507
2000's5 (12.82)29.6817
2010's25 (64.10)24.3611
2020's7 (17.95)2.80

Authors

AuthorsStudies
Aaron, L; Borkowsky, W; Hobbs, C; Kirmse, B; Montepiedra, G; Ryckman, KK; Smith, CJ; Summar, M; Van Dyke, R; Williams, PL; Yu, C1
Brumarová, R; Dobešová, D; Friedecký, D; Jahn, P; Kopecká, A; Tóthová, K1
Han, J; Ji, G; Lu, S; Song, X; Wu, H; Xie, Y1
He, R; Huang, M; Kang, L; Li, X; Li, Y; Liu, Y; Ma, R; Men, J; Ren, J; Song, J; Yang, Y1
Houten, SM; Ranea-Robles, P; van Vlies, N; Vaz, FM; Yu, C1
Bleeker, JC; Clarke, K; Cox, PJ; de Haan, FH; de Sain-van der Velden, MGM; Ferdinandusse, S; Houtkooper, RH; IJlst, L; Jeneson, JAL; Kok, IL; Langeveld, M; Sibeijn-Kuiper, A; Takken, T; van der Pol, WL; van der Woude, LH; van Weeghel, M; Visser, G; Wanders, RJA; Wijburg, FA; Wüst, RCI1
de Sain-van der Velden, MGM; Ferdinandusse, S; Houtkooper, RH; Knottnerus, SJG; Pras-Raves, ML; Schielen, PCJI; van der Ham, M; Visser, G; Wijburg, FA1
Chen, Y; Lin, Q; Liu, G; Qiu, X; Zeng, Y; Zhu, W1
Amory, H; Boemer, F; Cello, C; Detilleux, J; Lefère, L; Marcillaud-Pitel, C; Richard, E; van Galen, G; van Loon, G; Votion, DM1
Balogh, L; Berenténé Bene, J; Hidvégi, T; Komoly, S; Melegh, B; Molnár, GA; Pál, E; Sebők, Á; Szabó, A; Wittmann, I; Zsidegh, P1
Couce, ML; de Castro, MJ; López, M; Rite, S; Roca, I; Sánchez-Pintos, P1
Boemer, F; Bunert, C; Langer, S; Liesegang, A; Müller, A; Ternes, K; Votion, DM1
Cusmano-Ozog, K; McGuire, PJ; Tarasenko, TN1
Hedberg-Oldfors, C; Kollberg, G; Lindgren, U; Oldfors, A; Roos, S; Sofou, K; Thomsen, C; Tulinius, M1
Bueno, MA; Castiñeiras, DE; Cocho, JA; Couce, ML; Delgado-Pecellín, C; Diogo, L; Fraga, JM; García-Villoria, J; Leão-Teles, E; Martins, E; Ribes, A; Rocha, H; Sánchez-Pintos, P; Santos, H1
Hussain, S; Prasad, M1
Abdenur, JE; Au, SM; Barshop, BA; Feuchtbaum, L; Harding, CO; Hermerath, C; Lorey, F; Merritt, JL; Sesser, DE; Thompson, JD; Vedal, S; Yu, A1
Bastin, J; Bennett, MJ; Chen, J; Doulias, PT; Ischiropoulos, H; Tenopoulou, M1
Furuyama, H; Hisahara, S; Imai, T; Matsushita, T; Shigematsu, Y; Shimohama, S; Tajima, G1
Abel, S; Bochnia, M; Glatter, M; Recknagel, S; Sander, J; Schaefer, S; Schusser, GF; Uhlig, A; Vollstedt, S; Wensch-Dorendorf, M; Zeyner, A; Ziegler, J1
Bick, DP; Burrage, LC; Craigen, WJ; Elsea, SH; Gibson, JB; Graham, BH; Lose, EJ; Miller, MJ; Strenk, ME; Sun, Q; Sutton, VR; Wong, LJ; Zhang, VW1
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
Bo, R; Hasegawa, Y; Ishige, N; Kobayashi, H; Nakamura, M; Takahashi, T; Yamada, K; Yamaguchi, S1
Burrage, LC; Elsea, SH; Graham, BH; Kennedy, AD; Miller, MJ; Sun, Q; Sutton, VR; Wong, LJ1
Fu, HX; He, JJ; Jin, M; Lin, MT; Liu, XY; Wang, DN; Wang, N; Wang, ZQ1
Arnold, GL; Berry, SA; Cameron, C; Edick, MJ; Hansen, J; Leslie, N; Mohsen, AW; Pena, LD; van Calcar, SC; Vockley, J; Walsh Vockley, C1
Amory, H; Baise, E; Boemer, F; Cassart, D; Lemieux, H; Marcillaud-Pitel, C; Serteyn, D; van Galen, G; van Loon, G; Votion, DM1
Acquaviva-Bourdain, C; Andresen, BS; Bedat-Millet, AL; Behin, A; Boespflug-Tanguy, O; Brivet, M; Chabrol, B; Chaigne, D; Delevaux, I; Eymard, B; Laforêt, P; Laroche, C; Lombès, A; Penisson-Besnier, I; Rigal, O; Vianey-Saban, C1
Marble, M; McGoey, RR1
Primassin, S; Spiekerkoetter, U; Tucci, S1
Conlon, T; Cossette, T; Dungtao, F; Erger, K; Flotte, TR; Keeler, AM; Mueller, C; Shaffer, SA; Tang, Q; Walter, G; Zeng, H1
Fukao, T; Fukuda, S; Hasegawa, Y; Kobayashi, H; Purevsuren, J; Takahashi, T; Takayanagi, M; Yamada, K; Yamaguchi, S1
Beresford, MW; Davidson, JE; Pourfarzam, M; Turnbull, DM1
Blobel, H; Gottschalk, J; Hoffmann, GF; Kölker, S; Köppel, S; Waterham, HR1
Berger, R; de Sain-van der Velden, MG; Dorland, L; Ruiter, JP; Spliet, WG; Testerink, N; van der Kolk, JH; Votion, DM; Wanders, RJ; Westermann, CM; Wijnberg, ID1
Haseler, LJ; Karpinski, NC; Terkeltaub, RA; Videen, JS1
Georgala, C; Georgala, S; Michas, T; Schulpis, KH1
Obeid, R1
Allen, RH; Barić, I; Buist, NR; Glenn, B; Mudd, SH; Pogribny, I; Schulze, A; Stabler, S; Vugrek, O; Wagner, C; Zeisel, SH1

Reviews

1 review(s) available for s-adenosylmethionine and Muscle Disorders

ArticleYear
The metabolic burden of methyl donor deficiency with focus on the betaine homocysteine methyltransferase pathway.
    Nutrients, 2013, Sep-09, Volume: 5, Issue:9

    Topics: Animals; Betaine; Betaine-Homocysteine S-Methyltransferase; Choline; Dietary Supplements; Disease Models, Animal; DNA Methylation; Fasting; Fatty Liver; Folic Acid; Homocysteine; Humans; Liver; Metabolic Networks and Pathways; Methionine; Muscular Diseases; S-Adenosylmethionine

2013

Trials

2 trial(s) available for s-adenosylmethionine and Muscle Disorders

ArticleYear
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:4

    Topics: Adolescent; Adult; Beverages; Blood Glucose; Carnitine; Congenital Bone Marrow Failure Syndromes; Cross-Over Studies; Diet, Ketogenic; Endurance Training; Esters; Exercise Test; Female; Humans; Ketones; Ketosis; Lipid Metabolism, Inborn Errors; Magnetic Resonance Spectroscopy; Male; Middle Aged; Mitochondrial Diseases; Muscle, Skeletal; Muscular Diseases; Netherlands; Pulmonary Gas Exchange; Young Adult

2020
L-carnitine supplementation in patients with cystic acne on isotretinoin therapy.
    Journal of the European Academy of Dermatology and Venereology : JEADV, 1999, Volume: 13, Issue:3

    Topics: Acne Vulgaris; Adult; Alanine Transaminase; Alkaline Phosphatase; Aspartate Aminotransferases; Carnitine; Case-Control Studies; Cholesterol; Female; Follow-Up Studies; Humans; Isotretinoin; Keratolytic Agents; Liver; Male; Muscle Weakness; Muscular Diseases; Pain; Placebos; Triglycerides

1999

Other Studies

36 other study(ies) available for s-adenosylmethionine and Muscle Disorders

ArticleYear
Acylcarnitines and Genetic Variation in Fat Oxidation Genes in HIV-infected, Antiretroviral-treated Children With and Without Myopathy.
    The Pediatric infectious disease journal, 2022, 08-01, Volume: 41, Issue:8

    Topics: Anti-HIV Agents; Anti-Retroviral Agents; Carnitine; Child; Genetic Variation; HIV Infections; Humans; Muscular Diseases; Oxidation-Reduction; Reverse Transcriptase Inhibitors; Solute Carrier Family 22 Member 5

2022
Dynamics of acylcarnitines, hypoglycin A, méthylènecyclopropylglycine and their metabolites in a Kladruber stallion with atypical myopathy.
    The veterinary quarterly, 2022, Volume: 42, Issue:1

    Topics: Acyl-CoA Dehydrogenases; Animals; Carnitine; Creatine Kinase; Cyclopropanes; Fatty Acids; Glycine; Horse Diseases; Horses; Hypoglycins; Male; Muscular Diseases

2022
Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study.
    Medical science monitor : international medical journal of experimental and clinical research, 2019, Nov-30, Volume: 25

    Topics: Adolescent; Adult; Carnitine; Child; China; Electron-Transferring Flavoproteins; Female; Humans; Hyperuricemia; Iron-Sulfur Proteins; Lipid Metabolism, Inborn Errors; Male; Muscle Weakness; Muscle, Skeletal; Muscular Diseases; Muscular Dystrophies; Oxidoreductases Acting on CH-NH Group Donors; Quality of Life; Riboflavin; Young Adult

2019
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
    Clinica chimica acta; international journal of clinical chemistry, 2020, Volume: 503

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Asian People; Carnitine; China; Congenital Bone Marrow Failure Syndromes; Female; Humans; Hypoglycemia; Infant, Newborn; Lipid Metabolism, Inborn Errors; Liver Diseases; Male; Mitochondrial Diseases; Muscular Diseases; Mutation

2020
Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mouse.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:3

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Cardiomyopathies; Carnitine; Disease Models, Animal; Fatty Acids; Female; Haploinsufficiency; Hyperammonemia; Lipid Metabolism; Liver; Male; Mice; Mice, Knockout; Muscular Diseases; Myocardium; Phenotype; Solute Carrier Family 22 Member 5

2020
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
    Biochimica et biophysica acta. Molecular basis of disease, 2020, 06-01, Volume: 1866, Issue:6

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Child; Child, Preschool; Congenital Bone Marrow Failure Syndromes; Dried Blood Spot Testing; Female; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mass Spectrometry; Metabolomics; Mitochondrial Diseases; Muscular Diseases; Neonatal Screening; Phenotype

2020
Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency.
    Molecular genetics & genomic medicine, 2021, Volume: 9, Issue:2

    Topics: Adult; Cardiomyopathies; Carnitine; Female; Gene Frequency; Humans; Hyperammonemia; Infant; Male; Muscular Diseases; Mutation; Phenotype; Solute Carrier Family 22 Member 5

2021
Acylcarnitines profile best predicts survival in horses with atypical myopathy.
    PloS one, 2017, Volume: 12, Issue:8

    Topics: Animals; Carnitine; Horse Diseases; Horses; Muscular Diseases; Prognosis; Survival Rate

2017
[Rhabdomyolysis - may it be a metabolic myopathy? Case report and diagnostic algorithm].
    Orvosi hetilap, 2017, Volume: 158, Issue:47

    Topics: Algorithms; Carnitine; Diagnosis, Differential; Female; Humans; Middle Aged; Muscular Diseases; Rhabdomyolysis

2017
Similarities between acylcarnitine profiles in large for gestational age newborns and obesity.
    Scientific reports, 2017, 11-24, Volume: 7, Issue:1

    Topics: Cardiomyopathies; Carnitine; Female; Gestational Age; Humans; Hyperammonemia; Infant, Newborn; Infant, Small for Gestational Age; Male; Muscular Diseases; Obesity; Pregnancy

2017
Atypical myopathy in Père David's deer (Elaphurus davidianus) associated with ingestion of hypoglycin A.
    Journal of animal science, 2018, Jul-28, Volume: 96, Issue:8

    Topics: Acer; Animal Husbandry; Animals; Austria; Carnitine; Deer; Eating; Female; Germany; Hypoglycins; Male; Muscular Diseases; Seasons

2018
Tissue acylcarnitine status in a mouse model of mitochondrial β-oxidation deficiency during metabolic decompensation due to influenza virus infection.
    Molecular genetics and metabolism, 2018, Volume: 125, Issue:1-2

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Cardiomyopathies; Carnitine; Congenital Bone Marrow Failure Syndromes; Disease Models, Animal; Fatty Acids; Female; Humans; Hypoglycemia; Lipid Metabolism, Inborn Errors; Lipid Peroxidation; Liver; Liver Failure; Metabolic Diseases; Mice; Mitochondrial Diseases; Muscle, Skeletal; Muscular Diseases; Myocardium; Oxidation-Reduction

2018
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.
    European journal of human genetics : EJHG, 2019, Volume: 27, Issue:2

    Topics: Adolescent; Carnitine; Codon, Terminator; Electron Transport Complex IV; Female; Frameshift Mutation; Humans; Mitochondria, Muscle; Mitochondrial Diseases; Muscular Diseases

2019
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
    Orphanet journal of rare diseases, 2013, Jul-10, Volume: 8

    Topics: Acyl-CoA Dehydrogenase; Cardiomyopathies; Carnitine; Dietary Supplements; Female; Genetic Association Studies; Genotype; Homozygote; Humans; Hyperammonemia; Incidence; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Muscular Diseases; Neonatal Screening; Phenotype; Prevalence; Spain; Vitamin B Complex

2013
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
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
    Molecular genetics and metabolism, 2014, Volume: 111, Issue:4

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Congenital Bone Marrow Failure Syndromes; Demography; DNA Mutational Analysis; Fatty Acids; Female; Genotype; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mitochondrial Diseases; Muscular Diseases; Neonatal Screening; Phenotype; Reproducibility of Results

2014
Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.
    The Journal of biological chemistry, 2015, Apr-17, Volume: 290, Issue:16

    Topics: Acetylcysteine; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Amino Acid Sequence; Carnitine; Congenital Bone Marrow Failure Syndromes; Cysteine; Dose-Response Relationship, Drug; Fatty Acids; Fibroblasts; Genetic Therapy; Humans; Kinetics; Lipid Metabolism, Inborn Errors; Mitochondrial Diseases; Molecular Sequence Data; Muscular Diseases; Mutation; Oxidation-Reduction; Primary Cell Culture; Skin

2015
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
    The Tohoku journal of experimental medicine, 2015, Volume: 235, Issue:4

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Amino Acid Sequence; Base Sequence; Carnitine; Congenital Bone Marrow Failure Syndromes; Exercise; Heterozygote; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mitochondrial Diseases; Models, Molecular; Molecular Sequence Data; Muscular Diseases; Mutation, Missense; Protein Structure, Tertiary; Rhabdomyolysis; Sequence Alignment

2015
Hypoglycin A Content in Blood and Urine Discriminates Horses with Atypical Myopathy from Clinically Normal Horses Grazing on the Same Pasture.
    PloS one, 2015, Volume: 10, Issue:9

    Topics: Acer; Animals; Carnitine; Disease Outbreaks; Horse Diseases; Horses; Hypoglycins; Muscular Diseases; Plant Poisoning; Plants, Toxic; Seeds; Tandem Mass Spectrometry

2015
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
    Molecular genetics and metabolism, 2015, Volume: 116, Issue:3

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Alleles; Carnitine; Computer Simulation; Congenital Bone Marrow Failure Syndromes; Exons; Female; Genetic Carrier Screening; Genotype; Humans; Hypoglycemia; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mitochondrial Diseases; Muscular Diseases; Mutation, Missense; Neonatal Screening; Oligonucleotide Array Sequence Analysis; Sequence Analysis, DNA; Tandem Mass Spectrometry; United States

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
Elevation of pivaloylcarnitine by sivelestat sodium in two children.
    Molecular genetics and metabolism, 2015, Volume: 116, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Cardiomyopathies; Carnitine; Child, Preschool; Chromatography, Liquid; Female; Glycine; Humans; Hyperammonemia; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Muscular Diseases; Neonatal Screening; Serine Proteinase Inhibitors; Sulfonamides; Tandem Mass Spectrometry

2015
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
    The Journal of pediatrics, 2016, Volume: 169

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Child; Child, Preschool; Congenital Bone Marrow Failure Syndromes; Fasting; Female; Humans; Infant; Lipid Metabolism, Inborn Errors; Male; Mitochondrial Diseases; Muscular Diseases; Retrospective Studies

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
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
    Molecular genetics and metabolism, 2016, Volume: 118, Issue:4

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Child; Child, Preschool; Congenital Bone Marrow Failure Syndromes; Creatine Kinase; Female; Genetic Association Studies; Genotype; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mitochondrial Diseases; Muscular Diseases; Mutation; Neonatal Screening; Retrospective Studies

2016
Mitochondrial function is altered in horse atypical myopathy.
    Mitochondrion, 2016, Volume: 30

    Topics: Acer; Animal Feed; Animals; Carnitine; Europe; Female; Horse Diseases; Horses; Hypoglycins; Male; Mitochondrial Diseases; Muscles; Muscular Diseases; Oxidative Phosphorylation

2016
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
    Neuromuscular disorders : NMD, 2009, Volume: 19, Issue:5

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Biomarkers; Carnitine; Cells, Cultured; Child; DNA Mutational Analysis; Exercise Tolerance; Female; Genetic Testing; Genotype; Heterozygote; Homozygote; Humans; Male; Metabolism, Inborn Errors; Middle Aged; Mitochondrial Diseases; Muscle Weakness; Muscular Diseases; Mutation; Rhabdomyolysis; Young Adult

2009
Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.
    The Journal of pediatrics, 2011, Volume: 158, Issue:6

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Congenital Bone Marrow Failure Syndromes; Female; Genotype; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Metabolism, Inborn Errors; Mitochondrial Diseases; Mothers; Muscular Diseases; Neonatal Screening; Phenotype

2011
Hepatic and muscular effects of different dietary fat content in VLCAD deficient mice.
    Molecular genetics and metabolism, 2011, Volume: 104, Issue:4

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Congenital Bone Marrow Failure Syndromes; Diet; Dietary Fats; Energy Metabolism; Glycogen; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Lipids; Lipogenesis; Liver; Mice; Mice, 129 Strain; Mice, Inbred C57BL; Mice, Knockout; Mitochondrial Diseases; Muscle, Skeletal; Muscular Diseases; Physical Exertion; Up-Regulation

2011
Long-term correction of very long-chain acyl-coA dehydrogenase deficiency in mice using AAV9 gene therapy.
    Molecular therapy : the journal of the American Society of Gene Therapy, 2012, Volume: 20, Issue:6

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Congenital Bone Marrow Failure Syndromes; Dependovirus; Gene Expression; Genetic Therapy; Genetic Vectors; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Liver; Mice; Mice, Knockout; Mitochondrial Diseases; Muscle, Skeletal; Muscular Diseases; Phenotype; Tissue Distribution; Transduction, Genetic

2012
Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.
    Analytical and bioanalytical chemistry, 2013, Volume: 405, Issue:4

    Topics: Biological Transport; Cardiomyopathies; Carnitine; Carnitine Acyltransferases; Carnitine O-Palmitoyltransferase; Cells, Cultured; Fatty Acids; Fibroblasts; Humans; Hyperammonemia; Hypoglycemia; Lipid Metabolism, Inborn Errors; Mitochondria; Muscular Diseases; Oxidation-Reduction; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry

2013
So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.
    Neuromuscular disorders : NMD, 2006, Volume: 16, Issue:4

    Topics: Acyl-CoA Dehydrogenase; Adolescent; Carnitine; DNA Mutational Analysis; Electron-Transferring Flavoproteins; Female; Glutarates; Humans; Iron-Sulfur Proteins; Metabolism, Inborn Errors; Muscular Diseases; Oxidoreductases Acting on CH-NH Group Donors

2006
Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?
    Neurology, 2006, Oct-24, Volume: 67, Issue:8

    Topics: Acyl-CoA Dehydrogenase; Carnitine; Diagnostic Errors; Electron-Transferring Flavoproteins; Heterozygote; Humans; Iron-Sulfur Proteins; Male; Mass Spectrometry; Metabolism, Inborn Errors; Middle Aged; Muscular Diseases; Mutation; Oxidoreductases Acting on CH-NH Group Donors

2006
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
    Neuromuscular disorders : NMD, 2008, Volume: 18, Issue:5

    Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Animals; Butyric Acid; Butyryl-CoA Dehydrogenase; Carnitine; Chromatography, High Pressure Liquid; Female; Gas Chromatography-Mass Spectrometry; Glutarates; Horse Diseases; Horses; Isovaleryl-CoA Dehydrogenase; Lactic Acid; Male; Microscopy, Electron; Microscopy, Fluorescence; Muscles; Muscular Diseases; Riboflavin

2008
Noninvasive evaluation of adult onset myopathy from carnitine palmitoyl transferase II deficiency using proton magnetic resonance spectroscopy.
    The Journal of rheumatology, 1999, Volume: 26, Issue:8

    Topics: Adult; Age of Onset; Biomarkers; Carnitine; Carnitine O-Palmitoyltransferase; Fatigue; Female; Humans; Magnetic Resonance Spectroscopy; Muscles; Muscular Diseases; Myoglobinuria

1999
S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.
    Journal of inherited metabolic disease, 2006, Volume: 29, Issue:4

    Topics: Adenosylhomocysteinase; Adult; Choline; DNA Methylation; Erythrocytes; Family Health; Humans; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors; Muscular Diseases; Mutation, Missense; S-Adenosylhomocysteine; S-Adenosylmethionine

2006