carnitine has been researched along with riboflavin in 67 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 9 (13.43) | 18.7374 |
1990's | 15 (22.39) | 18.2507 |
2000's | 14 (20.90) | 29.6817 |
2010's | 25 (37.31) | 24.3611 |
2020's | 4 (5.97) | 2.80 |
Authors | Studies |
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Barnes, JC; Bradley, P; Day, NC; Fourches, D; Reed, JZ; Tropsha, A | 1 |
de Sousa, C; Green, A; Pollitt, RJ; Preece, MA | 1 |
Papadimitriou, A; Servidei, S | 1 |
Bernsen, PL; Gabreëls, FJ; Renier, WO; Ruitenbeek, W; Sengers, RC; Stadhouders, AM | 1 |
DiMauro, S; Haas, R; Nyhan, WL; Pintos-Morell, G; Prodanos, C | 1 |
Bell, RB; Brownell, AK; Engel, AG; Frerman, FE; Goodman, SI; Roe, CR; Seccombe, DW; Snyder, FF | 1 |
Di Donato, S; Gellera, C | 1 |
Iafolla, AK; Kahler, SG | 1 |
Antonelli, A; DiDonato, S; Gellera, C; Lus, G; Peluchetti, D; Rimoldi, M; Uziel, G | 1 |
Divry, P; Gregersen, N; Mathieu, M; Vianey-Liaud, C | 1 |
Bartlett, K; Eyre, JA; Fisher, J; Gardner-Medwin, D; Johnson, MA; Turnbull, DM; Watmough, NJ | 1 |
Batshaw, ML; Goodman, SI; Lipkin, PH; Roe, CR | 1 |
Bolhuis, PA; de Visser, M; Luyt-Houwen, IE; Oey, PL; Scholte, HR; Schutgens, RB; Vaandrager-Verduin, MH; Veder, HA | 1 |
Christow, CP | 1 |
Blom, W; Giesberts, MA; Mooy, PD; Przyrembel, H; Scholte, HR; van Gelderen, HH | 1 |
Brooke, MH; Carroll, JE; Hagberg, JM; Shumate, JB | 1 |
Bakker, HD; Bogaard, JM; Busch, HF; Kuyt, LP; Luyt-Houwen, IE; Scholte, HR | 1 |
Bennett, MJ; Dawson, DB; Hale, DE; Waber, L | 1 |
Araki, E; Goto, I; Hashimoto, T; Kobayashi, T; Kohtake, N | 1 |
Bernsen, PL; Gabreëls, FJ; Hamburger, HL; Ruitenbeek, W | 1 |
Rohr, F; Warman, ML; Yannicelli, S | 1 |
Koch, HG; Kurlemann, G; Masur, H; Möller, H; Paetzke, I; Schuierer, G; Weglage, J | 1 |
Blok, RB; Christodoulou, J; Dahl, HH; Fagan, E; Kirby, DM; Ogle, RF; Seller, KL; Thorburn, DR | 1 |
Artuch, R; Pineda, M; Vilaseca, MA | 1 |
Angelini, C; Barile, M; Brizio, C; Burlina, AB; Dabbeni-Sala, F; Freda, MP; Nijtmans, L; Vergani, L; Zerbetto, E | 1 |
Gunji, T; Koga, Y; Nonaka, I; Shimizu, N; Tojo, M; Yamaguchi, S | 1 |
Corral, I; Gimeno, A; Martínez Castrillo, JC; Martínez-Pardo, M | 1 |
Lebrecht, D; Setzer, B; Venhoff, N; Walker, UA | 1 |
Carcassi, AM; Collu, M; Licheri, D; Littarru, GP; Mancinelli, R; Naimi, S; Vargiu, R | 1 |
Baeza, F; Blajchman, MA; Goldman, M | 1 |
Greenberg, CR; Hoffmann, GF; Kölker, S; Mühlhausen, C; Naughten, ER; Okun, JG; Strauss, KA; Ullrich, K | 1 |
Garcia-Segura, JM; Merinero, B; Pascual-Castroviejo, I; Pascual-Pascual, SI; Ugarte, M; Velazquez, R; Viaño, J | 1 |
Garcia Pérez, A; Martínez Granero, MA; Martínez-Pardo, M; Parra, E | 1 |
Duran, M; Hogeveen, M; Ijlst, L; Niezen-Koning, KE; van Maldegem, BT; Wanders, RJ; Waterham, HR; Wijburg, FA | 1 |
Dimauro, S; Hirano, M; Kanki, T; López, LC; Naini, A; Quinzii, CM; Rodenburg, RJ; Schuelke, M | 1 |
Andersen, O; Andresen, BS; Beresford, MW; Cornelius, N; Dean, JC; Frerman, FE; Gregersen, N; Holme, E; Merinero, B; Miedzybrodzka, ZH; Morris, AA; Oldfors, A; Olpin, SE; Olsen, RK; Pourfarzam, M; Turnbull, DM | 1 |
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, ID | 1 |
Chen, LH; Hayashi, YK; Hirano, M; Jong, YJ; Liang, WC; López, LC; Nishino, I; Noguchi, S; Nonaka, I; Ohkuma, A | 1 |
Acquaviva-Bourdain, C; Brivet, M; Eymard, B; Jardel, C; Laforêt, P; Lombès, A; Maillart, E; Rigal, O; Vianey-Saban, C | 1 |
Duran, M; van Maldegem, BT; Wanders, RJ; Waterham, HR; Wijburg, FA | 1 |
Domínguez, CL; Durán, M; Landa, V; Mahfoud, A; Rashed, M; Rodríguez, D; Rodríguez, T | 1 |
Huang, X; Yang, L; Yang, R; Yin, H | 1 |
Andria, G; Bravaccio, C; Buono, S; Della Casa, R; Marino, M; Parenti, G; Pascarella, A; Riccio, MP; Romano, A; Rosa, M | 1 |
Hogan, J; Holzman, T; Lampe, JW; Levy, L; May, DH; McIntosh, MW; Navarro, SL; Ogata, Y; Ruczinski, I; Schwarz, Y | 1 |
Gökçen, C; Isikay, S; Yilmaz, K | 1 |
Işikay, S | 2 |
Chen, S; Ma, J; Tan, L | 1 |
Abrams, AJ; Al-Odaib, A; Antony, J; Baxter, PS; Brandner, S; Broomfield, A; Burns, J; Carpenter, K; Christodoulou, J; Clayton, P; Farrell, MO; Foley, AR; Forman, E; Gold, W; Gonzalez, MA; Hargreaves, I; Horvath, R; Houlden, H; Hughes, I; Jungbluth, H; King, MD; Land, JM; Lek, M; Lim, MJ; Lin, JP; Manzur, AY; Mathew, AA; Matsubara, K; McCullagh, BG; McGarvey, ML; Megarbane, A; Menezes, MP; Muntoni, F; Ng, J; O'Brien, K; O'Byrne, JJ; Olpin, S; Oppenheim, M; Ouvrier, RA; Pandraud, A; Phadke, R; Prasad, M; Rahman, S; Reilly, MM; Scherer, SS; Scoto, M; Shah, AH; Straub, V; Sugano, K; Urtizberea, JA; Wang, MX; Webster, R; Yonezawa, A; Züchner, S | 1 |
Feillet, F; Salomons, GS; Schmitt, E; Vianey-Saban, C; Wagner, S | 1 |
Gao, WN; Guo, CJ; Wang, YP; Wei, JY; Wu, JQ; Yang, JJ | 1 |
Biancini, GB; Derks, TG; Mescka, CP; Negretto, G; Reijngoud, DJ; Ribas, GS; Smit, GP; Touw, CM; Vanzin, CS; Vargas, CR; Wajner, M | 1 |
Fukuda, T; Hiroki, M; Ishii, A; Shigematsu, Y; Shioya, A; Sugie, H; Takuma, H; Tamaoka, A; Yamaguchi, S | 1 |
Gautschi, M; Nava, E; Nuoffer, JM; Slotboom, J; Weisstanner, C; Zürcher, T | 1 |
Bonini, M; Cerbelli, B; Internullo, M; Marinelli, P; Palange, P; Perli, E | 1 |
Bruckmaier, RM; Gerber, V; Gross, JJ; Han van der Kolk, JH | 1 |
Ceylaner, S; Işıkay, S; Yaman, A | 1 |
Kim, YJ; Ko, JM; Lee, KA; Song, J | 1 |
Angelini, C; Missaglia, S; Moro, L; Tavian, D | 1 |
Armagan, B; Erden, A; Kalyoncu, U; Karadag, O; Koca, M; Ozdamar, S; Sari, A; Yildiz, F | 1 |
Fukuda, S; Hasegawa, Y; Ito, M; Kobayashi, H; Taketani, T; Yamada, K; Yamaguchi, S | 1 |
Künnapas, K; Lilleväli, H; Mosegaard, S; Muru, K; Nochi, Z; Olsen, RKJ; Õunap, K; Pajusalu, S; Reinson, K | 1 |
Han, J; Ji, G; Lu, S; Song, X; Wu, H; Xie, Y | 1 |
D'yakonova, IN; Ishanova, YS; Rakhmanova, IV | 1 |
Liang, WC; Liao, WA; Lin, PY; Sun, YT | 1 |
Chen, L; Cheng, L; Deepak, RNVK; Deng, H; Fan, H; Jiao, Y; Kee, K; Kuang, W; Lan, Z; Li, W; Liu, C; Liu, X; Luo, Q; Ma, Z; Meng, X; Meng, Z; Wang, W; Wang, X; Xu, L; Zhang, J; Zhao, X | 1 |
Anderson, VE; Broxton, CN; Falk, MJ; Ganesh, S; Kaur, P; Lavorato, M; Mathew, ND; Nakamaru-Ogiso, E; Xiao, R | 1 |
5 review(s) available for carnitine and riboflavin
Article | Year |
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The inborn errors of mitochondrial fatty acid oxidation.
Topics: Carnitine; Diagnosis, Differential; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Fatty Acids; Flavoproteins; Glutarates; Humans; Iron-Sulfur Proteins; Lipid Metabolism, Inborn Errors; Microbodies; Mitochondria; Multienzyme Complexes; Oxidation-Reduction; Oxidoreductases Acting on CH-NH Group Donors; Riboflavin | 1987 |
Nutrition support for glutaric acidemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Dietary Proteins; Female; Food, Formulated; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Infant, Newborn; Lysine; Male; Mitochondria; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Riboflavin; Tryptophan | 1994 |
Improving the bacteriological safety of platelet transfusions.
Topics: Automation; Bacterial Infections; Blood Component Removal; Blood Platelets; Blood Preservation; Carnitine; Gamma Rays; Humans; Platelet Transfusion; Riboflavin; Risk; Temperature; Time Factors; Ultraviolet Rays | 2004 |
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Antioxidants; Carnitine; Glutaryl-CoA Dehydrogenase; Humans; Monitoring, Physiologic; Nervous System Diseases; Oxidoreductases Acting on CH-CH Group Donors; Riboflavin | 2004 |
Disturbed bovine mitochondrial lipid metabolism: a review.
Topics: Acyl-CoA Dehydrogenases; Animals; Carnitine; Cattle; Cattle Diseases; Fatty Acids; Female; Ketosis; Lipid Metabolism; Lipolysis; Liver; Mitochondria; Riboflavin | 2017 |
2 trial(s) available for carnitine and riboflavin
Article | Year |
---|---|
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.
Topics: Adolescent; Biomarkers; Butyryl-CoA Dehydrogenase; Carnitine; Child; Child, Preschool; Female; Flavin-Adenine Dinucleotide; Genetic Predisposition to Disease; Humans; Infant; Lipid Metabolism, Inborn Errors; Male; Malonates; Mutation; Phenotype; Prospective Studies; Riboflavin; Treatment Outcome; Vitamin B Complex | 2010 |
Metabolomic profiling of urine: response to a randomised, controlled feeding study of select fruits and vegetables, and application to an observational study.
Topics: Adult; Biomarkers; Brassicaceae; Carnitine; Citrus; Cross-Sectional Studies; Diet; Diet Records; Fatty Acids; Feeding Behavior; Female; Fruit; Glycine max; Humans; Ions; Male; Metabolome; Metabolomics; Niacin; Nutrition Assessment; Phytochemicals; Proline; Riboflavin; Surveys and Questionnaires; Vegetables; Young Adult | 2013 |
60 other study(ies) available for carnitine and riboflavin
Article | Year |
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Cheminformatics analysis of assertions mined from literature that describe drug-induced liver injury in different species.
Topics: Animals; Chemical and Drug Induced Liver Injury; Cluster Analysis; Databases, Factual; Humans; MEDLINE; Mice; Models, Chemical; Molecular Conformation; Quantitative Structure-Activity Relationship | 2010 |
Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria).
Topics: Acyl-CoA Dehydrogenases; Adipates; Carnitine; Child; Humans; Hypoglycemia; Male; Malonates; Riboflavin | 1991 |
Late onset lipid storage myopathy due to multiple acyl CoA dehydrogenase deficiency triggered by valproate.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Biopsy; Carnitine; Humans; Lipid Metabolism; Male; Middle Aged; Mitochondria, Muscle; Muscular Diseases; Riboflavin; Time Factors; Valproic Acid | 1991 |
Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine.
Topics: Biopsy; Carnitine; Child; Drug Therapy, Combination; Humans; Male; Microscopy, Electron; Muscles; Muscular Diseases; NAD(P)H Dehydrogenase (Quinone); Quinone Reductases; Riboflavin | 1991 |
Cytochrome c oxidase deficiency in muscle with dicarboxylic aciduria and renal tubular acidosis.
Topics: Acidosis, Renal Tubular; Amino Acids, Dicarboxylic; Bicarbonates; Carnitine; Cytochrome-c Oxidase Deficiency; Failure to Thrive; Humans; Infant; Male; Muscles; Riboflavin; Sodium; Sodium Bicarbonate | 1990 |
Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult.
Topics: Acidosis; Adult; Carnitine; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Female; Glutarates; Humans; Iron-Sulfur Proteins; Lipid Metabolism, Inborn Errors; Multienzyme Complexes; Muscular Diseases; Oxidoreductases Acting on CH-NH Group Donors; Reye Syndrome; Riboflavin | 1990 |
Short-chain and medium-chain acylCoA dehydrogenases are lowered in riboflavin-responsive lipid myopathies with multiple acylCoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Animals; Blotting, Western; Carnitine; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Female; Flavoproteins; Humans; Male; Middle Aged; Muscular Diseases; Mutation; Riboflavin; Swine | 1990 |
Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Carnitine; Female; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant, Newborn; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Riboflavin | 1989 |
Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.
Topics: Acyl-CoA Dehydrogenases; Carnitine; Child; Female; Humans; Metabolic Diseases; Muscular Diseases; Riboflavin | 1989 |
Lipid storage myopathy due to glutaric aciduria type II: treatment of a potentially fatal myopathy.
Topics: Carnitine; Female; Glutarates; Glutaryl-CoA Dehydrogenase; Glycine; Humans; Infant; Lipid Metabolism; Metabolic Diseases; Muscles; Muscular Diseases; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Riboflavin | 1988 |
A case of glutaric acidemia type I: effect of riboflavin and carnitine.
Topics: Amino Acid Metabolism, Inborn Errors; Basal Ganglia Diseases; Carnitine; Cerebral Palsy; Child, Preschool; gamma-Aminobutyric Acid; Glutarates; Humans; Male; Riboflavin | 1988 |
Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset.
Topics: Adolescent; Carnitine; Child; Fatty Acids; Female; Fibroblasts; Glutarates; Humans; Infant; Lipid Metabolism; Metabolic Diseases; Mitochondria, Muscle; Muscular Diseases; Pedigree; Riboflavin | 1986 |
[Experiments on the influence of metabolites and antimetabolites on the model of Trichomonas vaginalis. V. Relationship between vitamin-B-complexes and Trichomonas vaginalis].
Topics: Adenine; Adenosine Monophosphate; Bacteriological Techniques; Biotin; Carnitine; Choline; Hydrogen-Ion Concentration; Inositol; Models, Biological; Orotic Acid; Pyridoxine; Riboflavin; Thiamine; Thioctic Acid; Trichomonas vaginalis; Vitamin B Complex; Xanthopterin | 1971 |
Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin.
Topics: Biopsy; Carnitine; Fatty Acid Desaturases; Glutarates; Humans; Hypoglycemia; Infant; Insulin; Male; Metabolism, Inborn Errors; Muscle Hypotonia; Muscles; Riboflavin | 1984 |
Riboflavin-responsive lipid myopathy and carnitine deficiency.
Topics: Acyl-CoA Dehydrogenase; Adult; Carnitine; Fasting; Fatty Acid Desaturases; Female; Humans; Lipids; Mitochondria, Muscle; Muscles; Muscular Diseases; Oxygen Consumption; Physical Exertion; Riboflavin | 1981 |
Riboflavin-responsive complex I deficiency.
Topics: Adolescent; Adult; Biopsy; Carnitine; Child; Consanguinity; Electron Transport Complex IV; Fatigue; Female; Humans; Male; Mitochondria, Muscle; Muscle, Skeletal; NAD(P)H Dehydrogenase (Quinone); Pedigree; Riboflavin; Sarcolemma; Succinate Cytochrome c Oxidoreductase; Succinate Dehydrogenase | 1995 |
Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency.
Topics: Acidosis, Lactic; Carnitine; Fatty Acid Desaturases; Humans; Infant, Newborn; Riboflavin | 1995 |
A riboflavin-responsive lipid storage myopathy due to multiple acyl-CoA dehydrogenase deficiency: an adult case.
Topics: Acyl-CoA Dehydrogenases; Carnitine; Humans; Lipid Metabolism; Male; Middle Aged; Muscles; Muscular Diseases; Riboflavin | 1994 |
Treatment of complex I deficiency with riboflavin.
Topics: Adolescent; Adult; Carnitine; Child; Child, Preschool; Electrophysiology; Female; Humans; Lactates; Magnetic Resonance Imaging; Male; Mitochondrial Encephalomyopathies; Mitochondrial Myopathies; Muscles; NADH Dehydrogenase; Riboflavin; Tomography, X-Ray Computed | 1993 |
Therapy of complex I deficiency: peripheral neuropathy during dichloroacetate therapy.
Topics: Adolescent; Ascorbic Acid; Carnitine; Dichloroacetic Acid; Drug Therapy, Combination; Female; Humans; NAD(P)H Dehydrogenase (Quinone); Peripheral Nervous System Diseases; Riboflavin; Thiamine; Ubiquinone | 1995 |
Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.
Topics: Carnitine; Child, Preschool; DNA, Mitochondrial; Female; Humans; Infant; Male; Mitochondrial Myopathies; Muscle, Skeletal; NAD(P)H Dehydrogenase (Quinone); Pedigree; Point Mutation; Riboflavin; RNA, Transfer; Sequence Analysis, DNA | 1997 |
Biochemical monitoring of the treatment in paediatric patients with mitochondrial disease.
Topics: Adolescent; Alanine; Ascorbic Acid; Carnitine; Child; Child, Preschool; Erythrocytes; Female; Humans; Infant; Lactic Acid; Lymphocytes; Male; Mitochondrial Encephalomyopathies; Oxygen Consumption; Riboflavin; Ubiquinone; Vitamin E; Vitamin K | 1998 |
Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies.
Topics: Adult; Carnitine; Enzyme Activation; Fatty Acid Desaturases; Flavin Mononucleotide; Flavin-Adenine Dinucleotide; Humans; Male; Mitochondria, Muscle; Muscular Diseases; Riboflavin | 1999 |
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)].
Topics: Acyl-CoA Dehydrogenases; Biomarkers; Carnitine; Child; Electron-Transferring Flavoproteins; Fatty Acids; Glutarates; Humans; Iron-Sulfur Proteins; Lipid Metabolism, Inborn Errors; Male; Multienzyme Complexes; Oxidoreductases Acting on CH-NH Group Donors; Riboflavin | 2000 |
[Glutaric aciduria type I: diagnosis in adulthood and phenotypic variability].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic; Carnitine; Fibroblasts; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Magnetic Resonance Imaging; Movement Disorders; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Riboflavin; Tomography, X-Ray Computed | 2001 |
Dietary supplements in the treatment of nucleoside reverse transcriptase inhibitor-related mitochondrial toxicity.
Topics: Anti-HIV Agents; Ascorbic Acid; Carnitine; Cell Survival; Dietary Supplements; DNA, Mitochondrial; Electron Transport Complex IV; Humans; Lactic Acid; Lipid Metabolism; Mitochondria; Nucleosides; Riboflavin; RNA-Directed DNA Polymerase; Thiamine; Tumor Cells, Cultured; Zalcitabine | 2002 |
Enhancement of muscular performance by a coformulation of propionyl-L-carnitine, coenzyme Q10, nicotinamide, riboflavin and pantothenic acid in the rat.
Topics: Animals; Antioxidants; Blood Pressure; Body Weight; Carnitine; Coenzymes; Drug Combinations; Energy Metabolism; Female; Heart; Heart Rate; Male; Motor Activity; Muscle, Skeletal; Muscle, Smooth; Niacinamide; Organ Size; Pantothenic Acid; Papillary Muscles; Rats; Rats, Wistar; Riboflavin; Sex Characteristics; Ubiquinone | 2002 |
[Glutaric aciduria type 1 with normal evolution: follow-up of one case until adult age].
Topics: Basal Ganglia; Brain; Brain Chemistry; Brain Diseases, Metabolic, Inborn; Carnitine; Cells, Cultured; Child Development; Child, Preschool; Chromosomes, Human, Pair 19; Corpus Callosum; Female; Fibroblasts; Follow-Up Studies; Glutarates; Glutaryl-CoA Dehydrogenase; Heterozygote; Humans; Intelligence; Lactic Acid; Magnetic Resonance Imaging; Mutation, Missense; Oxidoreductases Acting on CH-CH Group Donors; Riboflavin; Seizures; Sequence Deletion | 2005 |
[Macrocephaly the first manifestation of glutaric aciduria type I: the importance of early diagnosis].
Topics: Brain; Brain Diseases, Metabolic; Carnitine; Diagnosis, Differential; Glutarates; Humans; Infant; Magnetic Resonance Imaging; Male; Riboflavin; Time Factors | 2005 |
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Carnitine; Child; Child, Preschool; Female; Genotype; Humans; Infant; Infant, Newborn; Male; Malonates; Metabolism, Inborn Errors; Mutation; Neonatal Screening; Netherlands; Phenotype; Retrospective Studies; Riboflavin; Vitamin B Complex | 2006 |
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.
Topics: Alkyl and Aryl Transferases; Biotin; Carnitine; Case-Control Studies; Cells, Cultured; Coenzymes; Fibroblasts; Humans; Infant; Kidney Diseases; Leigh Disease; Muscle Hypotonia; Mutation; Protein Subunits; Riboflavin; Thiamine; Ubiquinone | 2006 |
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Brain Diseases, Metabolic; Carnitine; Child; Child, Preschool; Electron Transport; Electron-Transferring Flavoproteins; Fatty Acids; Female; Humans; Iron-Sulfur Proteins; Male; Metabolism, Inborn Errors; Mitochondria, Muscle; Mitochondrial Myopathies; Muscle, Skeletal; Mutation; Oxidation-Reduction; Oxidoreductases Acting on CH-NH Group Donors; Riboflavin | 2007 |
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
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 |
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Topics: Adult; Age of Onset; Asian People; Carnitine; Child; DNA Mutational Analysis; Electron Transport; Electron-Transferring Flavoproteins; Energy Metabolism; Female; Genetic Predisposition to Disease; Humans; Iron-Sulfur Proteins; Male; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscle Weakness; Muscle, Skeletal; Mutation; Oxidoreductases Acting on CH-NH Group Donors; Riboflavin; Taiwan; Ubiquinone; Young Adult | 2009 |
[Multiple acyl-CoA dehydrogenase deficiency (MADD): a curable cause of genetic muscular lipidosis].
Topics: Acyl-CoA Dehydrogenases; Adult; Biopsy; Brain Diseases, Metabolic; Carnitine; Coloring Agents; DNA Mutational Analysis; Electron Transport; Electron-Transferring Flavoproteins; Female; Humans; Lipid Metabolism, Inborn Errors; Lipidoses; Male; Middle Aged; Muscle Weakness; Muscle, Skeletal; Riboflavin; Tandem Mass Spectrometry; Young Adult | 2010 |
[D-2-hydroxyglutaric aciduria. Report of two cases].
Topics: Anticonvulsants; Atrophy; Brain; Brain Diseases, Metabolic, Inborn; Carnitine; Child, Preschool; Consanguinity; Diagnosis, Differential; Female; Glutarates; Humans; Infant; Intellectual Disability; Muscle Hypotonia; Psychomotor Disorders; Riboflavin; Spasms, Infantile | 2009 |
Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Carnitine; China; Female; Gas Chromatography-Mass Spectrometry; Genes, Recessive; Glutaryl-CoA Dehydrogenase; Humans; Incidence; Infant; Infant, Newborn; Male; Mass Screening; Neuropsychological Tests; Riboflavin; Tandem Mass Spectrometry; Treatment Outcome | 2011 |
Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment.
Topics: Acidosis; Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Carnitine; Child Development; Hearing; Humans; Hypoglycemia; Infant; Language Development; Male; Muscle Hypotonia; Muscle, Skeletal; Neuropsychological Tests; Psychomotor Performance; Riboflavin; Social Behavior; Tandem Mass Spectrometry; Ubiquinone; Vitamins | 2012 |
L-2 hydroxyglutaric aciduria presenting with anxiety symptoms.
Topics: Adolescent; Anxiety; Brain Diseases, Metabolic, Inborn; Carnitine; Diagnosis, Differential; Humans; Magnetic Resonance Imaging; Male; Riboflavin; Treatment Outcome | 2013 |
L-2 hydroxyglutaric aciduria presenting with status epilepticus.
Topics: Brain Diseases, Metabolic, Inborn; Carnitine; Child; Diagnosis, Differential; Dietary Proteins; Female; Humans; Magnetic Resonance Imaging; Riboflavin; Status Epilepticus; Treatment Outcome | 2013 |
A case of choreoathetosis due to glutaric aciduria type 1.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic; Carnitine; Glutaryl-CoA Dehydrogenase; Humans; Leukoencephalopathies; Magnetic Resonance Imaging; Male; Riboflavin; Vitamin B Complex; Young Adult | 2013 |
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Topics: Adolescent; Brain; Bulbar Palsy, Progressive; Carnitine; Child; Child, Preschool; Exome; Female; Genotype; Hearing Loss, Sensorineural; Humans; Image Processing, Computer-Assisted; Magnetic Resonance Imaging; Male; Microarray Analysis; Motor Neuron Disease; Mutation; Neurologic Examination; Pedigree; Receptors, G-Protein-Coupled; Riboflavin; RNA; Sequence Analysis, DNA; Sural Nerve; Vitamins; Young Adult | 2014 |
Cerebral multicystic lesions in a child with L-2 hydroxyglutaric aciduria: a rare disease and a rare association.
Topics: Brain; Brain Diseases, Metabolic, Inborn; Carnitine; Central Nervous System Cysts; Child; Diagnosis, Differential; Diet, Protein-Restricted; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Male; Megalencephaly; Rare Diseases; Riboflavin; Vitamin B Complex | 2014 |
[L-2-hydroxyglutaric aciduria: report on two cases].
Topics: Alcohol Oxidoreductases; Brain; Brain Diseases, Metabolic, Inborn; Carnitine; Child; Child, Preschool; Chromosomes, Human, Pair 14; Consanguinity; DNA Mutational Analysis; Drug Therapy, Combination; Early Diagnosis; Early Medical Intervention; Female; Follow-Up Studies; Genetic Carrier Screening; Humans; Magnetic Resonance Imaging; Male; Prognosis; Riboflavin | 2014 |
Riboflavin supplementation improves energy metabolism in mice exposed to acute hypoxia.
Topics: 3-Hydroxybutyric Acid; Animals; Blood Glucose; Carnitine; Dietary Supplements; Drug Evaluation, Preclinical; Energy Metabolism; Fatty Acids, Nonesterified; Hypoxia; Lactic Acid; Magnetic Resonance Spectroscopy; Male; Mice; Pyruvic Acid; Random Allocation; Riboflavin; Urea; Vitamin B Complex | 2014 |
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Antioxidants; Carnitine; Child; Child, Preschool; Cross-Sectional Studies; Erythrocytes; Female; Humans; Infant; Infant, Newborn; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Male; Oxidative Stress; Proteins; Riboflavin; Vitamins; Young Adult | 2014 |
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.
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 |
Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy.
Topics: Brain; Carnitine; Child, Preschool; Coma; Consanguinity; Dietary Fats; Hereditary Central Nervous System Demyelinating Diseases; Humans; Hypoglycemia; Ketones; Magnetic Resonance Imaging; Male; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscle Weakness; Riboflavin; Treatment Outcome; Ubiquinone | 2015 |
A 22-year-old woman with unexplained exertional dyspnoea.
Topics: Carnitine; Dyspnea; Exercise; Exercise Test; Female; Humans; Mitochondrial Myopathies; Riboflavin; RNA, Transfer, Leu; Young Adult | 2016 |
An infant with glutaric aciduria type IIc diagnosed with a novel mutation.
Topics: Carnitine; Dietary Supplements; Exome Sequencing; Female; Humans; Infant; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Mutation; Respiration, Artificial; Respiratory Insufficiency; Riboflavin | 2017 |
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
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 |
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Topics: Carnitine; Computer Simulation; DNA Mutational Analysis; Drug Therapy, Combination; Electron-Transferring Flavoproteins; Female; Humans; Iron-Sulfur Proteins; Middle Aged; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscle, Skeletal; Mutation; Mutation, Missense; Oxidoreductases Acting on CH-NH Group Donors; Protein Conformation; Riboflavin | 2018 |
Two cases of glutaric aciduria type II: how to differentiate from inflammatory myopathies?
Topics: Acyl-CoA Dehydrogenase; Adolescent; Biopsy; Carnitine; Diagnosis, Differential; Female; Humans; Late Onset Disorders; Lipid Metabolism, Inborn Errors; Male; Micronutrients; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscle Weakness; Muscle, Skeletal; Muscular Dystrophies; Myositis; Riboflavin; Severity of Illness Index; Urinalysis; Young Adult | 2019 |
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
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 |
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Topics: Carnitine; Female; Humans; Infant, Newborn; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Mutation; Nucleotidyltransferases; Riboflavin | 2019 |
Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study.
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 |
Otoprotective Effect of Cortexin, Cogitum, and Elkar Administered Simultaneously with Netromycin in the Experiment.
Topics: Adenosine Triphosphate; Animals; Animals, Newborn; Aspartic Acid; Carnitine; Evoked Potentials, Auditory, Brain Stem; Intercellular Signaling Peptides and Proteins; Netilmicin; Otoacoustic Emissions, Spontaneous; Ototoxicity; Protective Agents; Rabbits; Riboflavin; Thiamine Pyrophosphate | 2020 |
Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency.
Topics: Adult; Anti-Obesity Agents; Asian People; Carnitine; Female; Humans; Metformin; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscle Weakness; Muscular Diseases; Riboflavin; Topiramate; Triiodothyronine; Ubiquinone | 2021 |
SLC22A14 is a mitochondrial riboflavin transporter required for sperm oxidative phosphorylation and male fertility.
Topics: Animals; Carnitine; Citric Acid Cycle; Diet; Fatty Acids; Female; Fertility; Fertilization in Vitro; Gene Expression; Humans; Infertility, Male; Male; Metabolome; Mice; Mice, Inbred C57BL; Mice, Knockout; Mitochondria; Mitochondrial Membranes; Models, Molecular; Organic Cation Transport Proteins; Oxidative Phosphorylation; Riboflavin; Sperm Motility; Spermatozoa | 2021 |
Dichloroacetate and thiamine improve survival and mitochondrial stress in a C. elegans model of dihydrolipoamide dehydrogenase deficiency.
Topics: Adenosine Triphosphate; Adult; Animals; Caenorhabditis elegans; Carnitine; Dihydrolipoamide Dehydrogenase; Humans; Pyruvates; Riboflavin; Thiamine; Thioctic Acid | 2022 |