carnitine has been researched along with Lipid Metabolism, Inborn Error in 257 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a mitochondrial fatty acid beta-oxidation defect characterized by accumulation of long-chain hydroxyacylcarnitine intermediates and female carriers of this disorder are in risk for pregnancy complications." | 7.76 | Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication? ( Eskelin, PM; Laitinen, KA; Tyni, TA, 2010) |
| "An infant with respiratory insufficiency, cardiomyopathy, lipid storage myopathy and low muscle carnitine was diagnosed as having 'Ondine's curse' because of recurrent nocturnal hypoventilation." | 7.70 | Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro. ( Angelini, C; Vergani, L, 1999) |
| "Infants with inborn errors of fatty acid metabolism may present with apnea, periodic breathing, and sudden infant death syndrome (SIDS)." | 7.69 | Familial infantile apnea and immature beta oxidation. ( Browning, IB; Iafolla, AK; Roe, CR, 1995) |
| "To determine the sensitivity and specificity of detecting urinary medium-chain acylcarnitines for the diagnosis of MCAD deficiency, 114 urine specimens from 75 children with metabolic diseases and controls were analyzed in a blinded fashion using a radioisotopic exchange/HPLC method." | 7.68 | Urinary medium-chain acylcarnitines in medium-chain acyl-CoA dehydrogenase deficiency, medium-chain triglyceride feeding and valproic acid therapy: sensitivity and specificity of the radioisotopic exchange/high performance liquid chromatography method. ( Gage, DA; Huang, ZH; Kossak, D; Li, BU; Penn, D; Rinaldo, P; Schmidt-Sommerfeld, E, 1992) |
| "Muscle carnitine palmityltransferase activity, measured by three different methods, was very low (0 to 20 percent of controls) in a patient with a familial syndrome of recurrent myoglobinuria." | 7.65 | Muscle carnitine palmityltransferase deficiency and myoglobinuria. ( DiMauro, PM; DiMauro, S, 1973) |
| "Blood levels of amino acids and acylcarnitines (tandem mass spectrometry) were measured in 18,303 patients with suspected inherited metabolic diseases." | 3.81 | Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry. ( Gao, X; Gu, X; Han, F; Han, L; Ji, W; Qiu, W; Wang, Y; Ye, J; Zhang, H, 2015) |
| "Since it is a treatable disorder, this diagnosis must be considered by performing an acylcarnitine profile in all patients presenting with an unexplained muscular weakness." | 3.76 | [Multiple acyl-CoA dehydrogenase deficiency (MADD): a curable cause of genetic muscular lipidosis]. ( Acquaviva-Bourdain, C; Brivet, M; Eymard, B; Jardel, C; Laforêt, P; Lombès, A; Maillart, E; Rigal, O; Vianey-Saban, C, 2010) |
| "Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a mitochondrial fatty acid beta-oxidation defect characterized by accumulation of long-chain hydroxyacylcarnitine intermediates and female carriers of this disorder are in risk for pregnancy complications." | 3.76 | Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication? ( Eskelin, PM; Laitinen, KA; Tyni, TA, 2010) |
| " Metabolic changes (liver steatosis and loss of muscle glycogen stores) appear also early after carnitine deprivation." | 3.74 | Effect of carnitine deprivation on carnitine homeostasis and energy metabolism in mice with systemic carnitine deficiency. ( Beier, K; Knapp, AC; Krähenbühl, S; Todesco, L; Torok, M, 2008) |
| "An infant with respiratory insufficiency, cardiomyopathy, lipid storage myopathy and low muscle carnitine was diagnosed as having 'Ondine's curse' because of recurrent nocturnal hypoventilation." | 3.70 | Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro. ( Angelini, C; Vergani, L, 1999) |
| "Infants with inborn errors of fatty acid metabolism may present with apnea, periodic breathing, and sudden infant death syndrome (SIDS)." | 3.69 | Familial infantile apnea and immature beta oxidation. ( Browning, IB; Iafolla, AK; Roe, CR, 1995) |
| "To determine the sensitivity and specificity of detecting urinary medium-chain acylcarnitines for the diagnosis of MCAD deficiency, 114 urine specimens from 75 children with metabolic diseases and controls were analyzed in a blinded fashion using a radioisotopic exchange/HPLC method." | 3.68 | Urinary medium-chain acylcarnitines in medium-chain acyl-CoA dehydrogenase deficiency, medium-chain triglyceride feeding and valproic acid therapy: sensitivity and specificity of the radioisotopic exchange/high performance liquid chromatography method. ( Gage, DA; Huang, ZH; Kossak, D; Li, BU; Penn, D; Rinaldo, P; Schmidt-Sommerfeld, E, 1992) |
| "Muscle carnitine palmityltransferase activity, measured by three different methods, was very low (0 to 20 percent of controls) in a patient with a familial syndrome of recurrent myoglobinuria." | 3.65 | Muscle carnitine palmityltransferase deficiency and myoglobinuria. ( DiMauro, PM; DiMauro, S, 1973) |
| "Riboflavin treatment resulted in a decrease in EMA excretion in the mut/var group and in a subjective clinical improvement in four patients from this group." | 2.75 | Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency. ( Duran, M; van Maldegem, BT; Wanders, RJ; Waterham, HR; Wijburg, FA, 2010) |
| " For example, high dosage l-carnitine is an effective intervention for patients with Primary Carnitine Deficiency (PCD)." | 2.58 | Lipid storage myopathies: Current treatments and future directions. ( Little, DG; Schindeler, A; Summers, MA; Vasiljevski, ER, 2018) |
| "Today, carnitine treatment of inborn errors of metabolism is a safe and integral part of many treatment protocols, and a growing interest in carnitine has resulted in greater recognition of many causes of carnitine depletion." | 2.53 | Historical Perspective on Clinical Trials of Carnitine in Children and Adults. ( Buist, NR, 2016) |
| "Not surprisingly, a group of muscle disorders due to defects in this system usually leads to the development of acute rhabdomyolysis in conditions such as infection, fasting and prolonged exercise." | 2.46 | State of the art in muscle lipid diseases. ( Liang, WC; Nishino, I, 2010) |
| "Carnitine plays an essential role in the transfer of long-chain fatty acids across the inner mitochondrial membrane." | 2.43 | Disorders of carnitine transport and the carnitine cycle. ( Amat di San Filippo, C; Longo, N; Pasquali, M, 2006) |
| "Carnitine is an essential cofactor in the transfer of long-chain fatty acids across the inner mitochondrial membrane." | 2.37 | Carnitine deficiency. ( Gilbert, EF, 1985) |
| " A daily dosage of 20-40 mg/kg carnitine was sufficient to maintain normal C0 concentrations." | 1.91 | Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation. ( Berger, U; Haider, M; Lotz-Havla, A; Maier, EM; Märtner, EMC; Regenauer-Vandewiele, S; Röschinger, W; Schuhmann, E; Wagner, M; Weiss, KJ, 2023) |
| "Triheptanoin was mixed with non-MCT-containing low-fat formula." | 1.62 | Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders. ( Chang, IJ; Gunnarson, M; Hahn, S; Lam, C; McKean, KN; Merritt, JL; Norris, MK; Scott, AI; Sullivan, S; Sun, A; Thies, JM, 2021) |
| "Among the metabolic myopathies glutaric aciduria type II (GAII) is an autosomal recessively inherited rare disorder of fatty acid and amino acid metabolisms." | 1.51 | Two cases of glutaric aciduria type II: how to differentiate from inflammatory myopathies? ( Armagan, B; Erden, A; Kalyoncu, U; Karadag, O; Koca, M; Ozdamar, S; Sari, A; Yildiz, F, 2019) |
| "Severe pneumonia was the initial diagnosis." | 1.42 | Refractory Hyperlactatemia with Organ Insufficiency in Lipid Storage Myopathy. ( He, W; Li, Y; Liang, W; Liang, X; Liu, X; Xu, Y; Zhong, N; Zhou, L, 2015) |
| "Rhabdomyolysis was diagnosed based on the marked elevation of serum creatine kinase and myoglobinuria." | 1.42 | A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis. ( Furuyama, H; Hisahara, S; Imai, T; Matsushita, T; Shigematsu, Y; Shimohama, S; Tajima, G, 2015) |
| "Acyl-carnitine profiles were obtained from dried blood spot and/or from oxidation of (13) C-palmitate by cultured skin fibroblasts." | 1.42 | Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis. ( Bottu, J; De Meirleir, L; Ferdinandusse, S; Scalais, E; Wanders, RJ; Waterham, HR, 2015) |
| "One mother had dilated cardiomyopathy at diagnosis and her cardiac function improved after treatment." | 1.36 | Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. ( Chen, CA; Chien, YH; Chiu, PC; Huang, AC; Hwu, WL; Lee, NC; Lin, SJ; Tang, NL, 2010) |
| "Carnitine plays an essential role in fatty acid metabolism, as well as modulation of intracellular concentrations of free coenzyme A by esterification of acyl residues." | 1.36 | Acylcarnitine analysis by tandem mass spectrometry. ( Matern, D; Smith, EH, 2010) |
| "Evolution was complicated by acute renal failure, increased serum levels of transaminases and hypoparathyroidism." | 1.35 | Hypoketotic hypoglycemia with myolysis and hypoparathyroidism: an unusual association in medium chain acyl-CoA desydrogenase deficiency (MCADD). ( Baruteau, J; Bloom, MC; Broué, P; Levade, T; Mesli, S; Redonnet-Vernhet, I, 2009) |
| "Acylcarnitines were also analyzed in 42 unaffected relatives of patients with MCAD deficiency and in other groups of patients having elevated plasma C8 acylcarnitine, consisting of 32 receiving valproic acid, 9 receiving medium-chain triglyceride supplement, 4 having multiple acyl-coenzyme A dehydrogenase deficiency, and 8 others with various etiologies." | 1.29 | Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. ( Chace, DH; Chen, YT; Ding, JH; Iafolla, AK; Kahler, SG; Millington, DS; Roe, CR; Terada, N; Van Hove, JL; Zhang, W, 1993) |
| "Riboflavin and carnitine treatment corrected the metabolic abnormalities and she improved clinically." | 1.28 | Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult. ( Bell, RB; Brownell, AK; Engel, AG; Frerman, FE; Goodman, SI; Roe, CR; Seccombe, DW; Snyder, FF, 1990) |
| "Mitochondrial myopathies are a clinical condition characterized by muscle weakness and fatigue in which the primary defect is localized at the level of the mitochondria." | 1.27 | Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation. ( Byrne, E; Clark, JB; Hayes, DJ; Morgan-Hughes, JA, 1984) |
| "Carnitine concentration was normal in the father but below normal in the mother's muscle where abnormal accumulations of lipid droplets and mitochondria were present between the myofibrils and beneath the sarcolemmal sheath." | 1.26 | A hereditary case of lipid storage myopathy with carnitine deficiency. Ultrastructural observation of muscle tissue in parents. ( Moggio, M; Pellegrini, G; Scarlato, G, 1980) |
| "Free carnitine was extremely reduced in muscle and liver and just below normal level in plasma while there was a tenfold elevation of long-chain carnitine esters in plasma too." | 1.26 | Systemic carnitine deficiency with peripheral nerve involvement morphological and biochemical study. ( Cornelio, F; DiDonato, S; Mora, M; Negri, S; Peluchetti, D; Rimoldi, M; Testa, D, 1981) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 43 (16.73) | 18.7374 |
| 1990's | 47 (18.29) | 18.2507 |
| 2000's | 44 (17.12) | 29.6817 |
| 2010's | 93 (36.19) | 24.3611 |
| 2020's | 30 (11.67) | 2.80 |
| Authors | Studies |
|---|---|
| Rücklová, K | 1 |
| Hrubá, E | 1 |
| Pavlíková, M | 1 |
| Hanák, P | 1 |
| Farolfi, M | 1 |
| Chrastina, P | 1 |
| Vlášková, H | 1 |
| Kousal, B | 1 |
| Smolka, V | 1 |
| Foltenová, H | 1 |
| Adam, T | 1 |
| Friedecký, D | 1 |
| Ješina, P | 1 |
| Zeman, J | 1 |
| Kožich, V | 1 |
| Honzík, T | 1 |
| Li, YY | 1 |
| Xu, J | 3 |
| Sun, XC | 1 |
| Li, HY | 1 |
| Mu, K | 1 |
| Tian, Y | 1 |
| Zhu, X | 1 |
| Lv, S | 1 |
| Jia, C | 1 |
| Zhang, L | 1 |
| Ni, M | 1 |
| Xu, Y | 2 |
| Peng, R | 1 |
| Liu, S | 1 |
| Zhao, D | 1 |
| Ambrose, A | 1 |
| Sheehan, M | 1 |
| Bahl, S | 1 |
| Athey, T | 1 |
| Ghai-Jain, S | 1 |
| Chan, A | 1 |
| Mercimek-Andrews, S | 1 |
| Scott, D | 1 |
| Clinton Frazee, C | 1 |
| Heese, B | 1 |
| Garg, U | 1 |
| Chen, M | 1 |
| Yin, Y | 1 |
| Liu, H | 1 |
| Peng, Y | 1 |
| Ye, L | 1 |
| Luo, Q | 1 |
| Miao, J | 1 |
| Dong, L | 1 |
| Ji, C | 1 |
| Cui, Y | 1 |
| Balci, MC | 1 |
| Karaca, M | 1 |
| Ergul, Y | 1 |
| Omeroglu, RE | 1 |
| Demirkol, M | 1 |
| Gokcay, GF | 1 |
| Tan, YY | 1 |
| Fong, WYN | 1 |
| Chan, CJ | 1 |
| Chandran, S | 1 |
| Weiss, KJ | 1 |
| Berger, U | 1 |
| Haider, M | 1 |
| Wagner, M | 1 |
| Märtner, EMC | 1 |
| Regenauer-Vandewiele, S | 1 |
| Lotz-Havla, A | 1 |
| Schuhmann, E | 1 |
| Röschinger, W | 3 |
| Maier, EM | 2 |
| Xiao, M | 1 |
| Xie, Z | 2 |
| Liu, J | 1 |
| Li, X | 3 |
| Zhang, Q | 1 |
| Zhang, Z | 1 |
| Li, D | 1 |
| Shiraishi, W | 1 |
| Tateishi, T | 1 |
| Hayashida, S | 1 |
| Tajima, G | 3 |
| Tsumura, M | 1 |
| Isobe, N | 1 |
| Tan, J | 1 |
| Chen, D | 2 |
| Huang, J | 1 |
| Chang, R | 1 |
| Yan, T | 1 |
| Cai, R | 2 |
| Han, J | 1 |
| Song, X | 1 |
| Lu, S | 1 |
| Ji, G | 1 |
| Xie, Y | 1 |
| Wu, H | 1 |
| Ma, R | 1 |
| Liu, Y | 3 |
| Kang, L | 1 |
| He, R | 1 |
| Song, J | 3 |
| Ren, J | 1 |
| Li, Y | 3 |
| Huang, M | 1 |
| Men, J | 1 |
| Yang, Y | 3 |
| Anderson, DR | 1 |
| Viau, K | 2 |
| Botto, LD | 1 |
| Pasquali, M | 5 |
| Longo, N | 5 |
| Bleeker, JC | 1 |
| Visser, G | 3 |
| Clarke, K | 1 |
| Ferdinandusse, S | 3 |
| de Haan, FH | 1 |
| Houtkooper, RH | 2 |
| IJlst, L | 6 |
| Kok, IL | 1 |
| Langeveld, M | 1 |
| van der Pol, WL | 1 |
| de Sain-van der Velden, MGM | 2 |
| Sibeijn-Kuiper, A | 1 |
| Takken, T | 1 |
| Wanders, RJA | 1 |
| van Weeghel, M | 1 |
| Wijburg, FA | 6 |
| van der Woude, LH | 1 |
| Wüst, RCI | 1 |
| Cox, PJ | 1 |
| Jeneson, JAL | 1 |
| Nochi, Z | 1 |
| Birkler, RID | 1 |
| Fernandez-Guerra, P | 1 |
| Hansen, J | 2 |
| Wibrand, F | 1 |
| Corydon, TJ | 1 |
| Gregersen, N | 4 |
| Olsen, RKJ | 1 |
| Knottnerus, SJG | 1 |
| Pras-Raves, ML | 1 |
| van der Ham, M | 1 |
| Schielen, PCJI | 2 |
| Wang, S | 1 |
| Leng, J | 1 |
| Diao, C | 1 |
| Wang, Y | 4 |
| Zheng, R | 1 |
| Alhashem, A | 1 |
| Mohamed, S | 1 |
| Abdelraheem, M | 1 |
| AlGufaydi, B | 1 |
| Al-Aqeel, A | 1 |
| Lin, Y | 1 |
| Zhang, W | 2 |
| Lin, C | 1 |
| Zheng, Z | 1 |
| Fu, Q | 1 |
| Li, M | 1 |
| Peng, W | 1 |
| Norris, MK | 1 |
| Scott, AI | 1 |
| Sullivan, S | 1 |
| Chang, IJ | 1 |
| Lam, C | 1 |
| Sun, A | 1 |
| Hahn, S | 1 |
| Thies, JM | 1 |
| Gunnarson, M | 1 |
| McKean, KN | 1 |
| Merritt, JL | 2 |
| McGregor, TL | 1 |
| Berry, SA | 2 |
| Dipple, KM | 1 |
| Hamid, R | 1 |
| Cambra Conejero, A | 1 |
| Martínez Figueras, L | 1 |
| Ortiz Temprado, A | 1 |
| Blanco Soto, P | 1 |
| Martín Rivada, Á | 1 |
| Palomino Pérez, L | 1 |
| Cañedo Villarroya, E | 1 |
| Pedrón Giner, C | 1 |
| Quijada Fraile, P | 1 |
| Martín-Hernández, E | 1 |
| García Silva, MT | 1 |
| Chumillas Calzada, S | 1 |
| Bellusci, M | 1 |
| Belanger-Quintana, A | 1 |
| Stanescu, S | 1 |
| Martínez-Pardo Casanova, M | 1 |
| Moráis López, A | 1 |
| Bergua Martínez, A | 1 |
| Ruiz-Salas, P | 1 |
| Pérez González, B | 1 |
| Ugarte, M | 1 |
| Ruano, MLF | 1 |
| Almannai, M | 1 |
| Aldehaimi, A | 1 |
| Peake, RWA | 1 |
| Almontashiri, NAM | 1 |
| Zhou, Z | 1 |
| Yang, L | 1 |
| Liao, H | 1 |
| Ning, Z | 1 |
| Chen, B | 1 |
| Jiang, Z | 1 |
| Yang, S | 1 |
| Wang, M | 1 |
| Xiao, Z | 1 |
| Ryder, B | 2 |
| Inbar-Feigenberg, M | 1 |
| Glamuzina, E | 2 |
| Halligan, R | 1 |
| Vara, R | 1 |
| Elliot, A | 1 |
| Coman, D | 1 |
| Minto, T | 1 |
| Lewis, K | 1 |
| Schiff, M | 1 |
| Vijay, S | 1 |
| Akroyd, R | 1 |
| Thompson, S | 1 |
| MacDonald, A | 1 |
| Woodward, AJM | 1 |
| Gribben, JEL | 1 |
| Grunewald, S | 1 |
| Belaramani, K | 1 |
| Hall, M | 1 |
| van der Haak, N | 1 |
| Devanapalli, B | 1 |
| Tolun, AA | 1 |
| Wilson, C | 2 |
| Bhattacharya, K | 1 |
| Yu, Y | 1 |
| Shen, LH | 1 |
| Qiu, WJ | 2 |
| Zhang, HW | 1 |
| Ye, J | 3 |
| Liang, LL | 1 |
| Ji, WJ | 1 |
| Gu, XF | 2 |
| Han, LS | 2 |
| Meinhardt, B | 1 |
| Motlagh Scholle, L | 1 |
| Seifert, F | 1 |
| Anwand, M | 1 |
| Pietzsch, M | 1 |
| Zierz, S | 1 |
| Manta-Vogli, PD | 1 |
| Schulpis, KH | 1 |
| Loukas, YL | 1 |
| Dotsikas, Y | 1 |
| Gürbüz, BB | 1 |
| Yılmaz, DY | 1 |
| Özgül, RK | 1 |
| Koşukcu, C | 1 |
| Dursun, A | 1 |
| Sivri, HS | 1 |
| Coşkun, T | 1 |
| Tokatlı, A | 1 |
| Gillingham, MB | 4 |
| Heitner, SB | 1 |
| Martin, J | 1 |
| Rose, S | 1 |
| Goldstein, A | 1 |
| El-Gharbawy, AH | 1 |
| Deward, S | 1 |
| Lasarev, MR | 1 |
| Pollaro, J | 1 |
| DeLany, JP | 1 |
| Burchill, LJ | 1 |
| Goodpaster, B | 1 |
| Shoemaker, J | 2 |
| Matern, D | 9 |
| Harding, CO | 3 |
| Vockley, J | 7 |
| Zheng, J | 1 |
| Zhang, Y | 1 |
| Hong, F | 2 |
| Yang, J | 1 |
| Tong, F | 3 |
| Mao, H | 1 |
| Huang, X | 2 |
| Zhou, X | 1 |
| Yang, R | 2 |
| Zhao, Z | 2 |
| Janzen, N | 1 |
| Hofmann, AD | 1 |
| Schmidt, G | 1 |
| Das, AM | 1 |
| Illsinger, S | 1 |
| Smon, A | 1 |
| Groselj, U | 1 |
| Debeljak, M | 1 |
| Zerjav Tansek, M | 1 |
| Bertok, S | 1 |
| Avbelj Stefanija, M | 1 |
| Trebusak Podkrajsek, K | 1 |
| Battelino, T | 1 |
| Repic Lampret, B | 1 |
| Lisyová, J | 1 |
| Chandoga, J | 1 |
| Jungová, P | 1 |
| Repiský, M | 1 |
| Knapková, M | 1 |
| Machková, M | 1 |
| Dluholucký, S | 1 |
| Behúlová, D | 1 |
| Šaligová, J | 1 |
| Potočňáková, Ľ | 1 |
| Lysinová, M | 1 |
| Böhmer, D | 1 |
| Pinn, TL | 1 |
| Divers, TJ | 1 |
| Southard, T | 1 |
| De Bernardis, NP | 1 |
| Wakshlag, JJ | 1 |
| Valberg, S | 1 |
| Tarasenko, TN | 1 |
| Cusmano-Ozog, K | 1 |
| McGuire, PJ | 1 |
| Vasiljevski, ER | 1 |
| Summers, MA | 1 |
| Little, DG | 1 |
| Schindeler, A | 1 |
| Vargas, CR | 2 |
| Ribas, GS | 2 |
| da Silva, JM | 1 |
| Sitta, A | 1 |
| Deon, M | 1 |
| de Moura Coelho, D | 1 |
| Wajner, M | 3 |
| Koca, M | 1 |
| Erden, A | 1 |
| Armagan, B | 1 |
| Sari, A | 1 |
| Yildiz, F | 1 |
| Ozdamar, S | 1 |
| Kalyoncu, U | 1 |
| Karadag, O | 1 |
| Janeiro, P | 1 |
| Jotta, R | 1 |
| Ramos, R | 1 |
| Florindo, C | 1 |
| Ventura, FV | 3 |
| Vilarinho, L | 1 |
| Tavares de Almeida, I | 3 |
| Gaspar, A | 1 |
| Jiang, PP | 1 |
| Yang, RL | 1 |
| Huang, XL | 1 |
| Zhou, XL | 1 |
| Qian, GL | 1 |
| Zhao, ZY | 1 |
| Shu, Q | 2 |
| Chen, T | 1 |
| Jiang, P | 1 |
| Jager, EA | 1 |
| Kuijpers, MM | 1 |
| Bosch, AM | 1 |
| Mulder, MF | 1 |
| Gozalbo, ER | 1 |
| de Vries, M | 1 |
| Williams, M | 1 |
| Waterham, HR | 4 |
| van Spronsen, FJ | 1 |
| Derks, TGJ | 2 |
| Rovelli, V | 1 |
| Manzoni, F | 1 |
| Zhu, R | 1 |
| Phowthongkum, P | 1 |
| Suphapeetiporn, K | 1 |
| Shotelersuk, V | 1 |
| van Rijt, WJ | 2 |
| van der Ende, RM | 1 |
| Volker-Touw, CML | 1 |
| van Spronsen, F | 1 |
| Heiner-Fokkema, MR | 1 |
| Madsen, KL | 1 |
| Preisler, N | 1 |
| Orngreen, MC | 1 |
| Andersen, SP | 1 |
| Olesen, JH | 1 |
| Lund, AM | 2 |
| Vissing, J | 1 |
| Waisbren, SE | 2 |
| Landau, Y | 1 |
| Wilson, J | 1 |
| Couce, ML | 1 |
| Sánchez-Pintos, P | 1 |
| Diogo, L | 1 |
| Leão-Teles, E | 1 |
| Martins, E | 1 |
| Santos, H | 1 |
| Bueno, MA | 1 |
| Delgado-Pecellín, C | 1 |
| Castiñeiras, DE | 1 |
| Cocho, JA | 1 |
| García-Villoria, J | 1 |
| Ribes, A | 1 |
| Fraga, JM | 1 |
| Rocha, H | 1 |
| Violante, S | 1 |
| Te Brinke, H | 2 |
| Koster, J | 1 |
| Wanders, RJ | 17 |
| Houten, SM | 2 |
| Ndukwe Erlingsson, UC | 1 |
| Iacobazzi, F | 1 |
| Liu, A | 1 |
| Ardon, O | 1 |
| Nouws, J | 1 |
| Nijtmans, LG | 1 |
| Kumar, G | 1 |
| Mattke, AC | 1 |
| Bowling, F | 1 |
| McWhinney, A | 1 |
| Alphonso, N | 1 |
| Karl, TR | 1 |
| Vedal, S | 1 |
| Abdenur, JE | 5 |
| Au, SM | 1 |
| Barshop, BA | 2 |
| Feuchtbaum, L | 2 |
| Hermerath, C | 1 |
| Lorey, F | 3 |
| Sesser, DE | 1 |
| Thompson, JD | 1 |
| Yu, A | 1 |
| Derks, TG | 2 |
| Touw, CM | 1 |
| Biancini, GB | 1 |
| Vanzin, CS | 1 |
| Negretto, G | 1 |
| Mescka, CP | 1 |
| Reijngoud, DJ | 2 |
| Smit, GP | 1 |
| Han, L | 1 |
| Han, F | 1 |
| Qiu, W | 1 |
| Zhang, H | 1 |
| Gao, X | 1 |
| Ji, W | 1 |
| Gu, X | 1 |
| Ryckman, KK | 1 |
| Smith, CJ | 1 |
| Jelliffe-Pawlowski, LL | 1 |
| Momany, AM | 1 |
| Berberich, SL | 1 |
| Murray, JC | 1 |
| Haglind, CB | 1 |
| Nordenström, A | 1 |
| Ask, S | 1 |
| von Döbeln, U | 1 |
| Gustafsson, J | 1 |
| Stenlid, MH | 1 |
| Fukao, T | 4 |
| Akiba, K | 1 |
| Goto, M | 1 |
| Kuwayama, N | 1 |
| Morita, M | 1 |
| Hori, T | 2 |
| Aoyama, Y | 2 |
| Venkatesan, R | 1 |
| Wierenga, R | 1 |
| Moriyama, Y | 1 |
| Hashimoto, T | 1 |
| Usuda, N | 1 |
| Murayama, K | 1 |
| Ohtake, A | 2 |
| Hasegawa, Y | 7 |
| Shigematsu, Y | 3 |
| Scalais, E | 1 |
| Bottu, J | 1 |
| De Meirleir, L | 1 |
| Hall, PL | 1 |
| Wittenauer, A | 1 |
| Hagar, A | 1 |
| Vatanavicharn, N | 1 |
| Yamada, K | 2 |
| Densupsoontorn, N | 1 |
| Jirapinyo, P | 1 |
| Sathienkijkanchai, A | 1 |
| Yamaguchi, S | 9 |
| Wasant, P | 2 |
| Tal, G | 1 |
| Pitt, J | 1 |
| Morrisy, S | 1 |
| Tzanakos, N | 1 |
| Boneh, A | 1 |
| Ding, Y | 1 |
| Ma, Y | 1 |
| Wang, Q | 1 |
| Tenopoulou, M | 1 |
| Chen, J | 1 |
| Bastin, J | 2 |
| Bennett, MJ | 4 |
| Ischiropoulos, H | 1 |
| Doulias, PT | 1 |
| Hisahara, S | 1 |
| Matsushita, T | 1 |
| Furuyama, H | 1 |
| Imai, T | 1 |
| Shimohama, S | 1 |
| Virmani, A | 1 |
| Pinto, L | 1 |
| Bauermann, O | 1 |
| Zerelli, S | 1 |
| Diedenhofen, A | 1 |
| Binienda, ZK | 1 |
| Ali, SF | 1 |
| van der Leij, FR | 1 |
| Zhou, L | 1 |
| Liang, W | 1 |
| He, W | 1 |
| Liu, X | 1 |
| Liang, X | 1 |
| Zhong, N | 1 |
| McCoin, CS | 2 |
| Knotts, TA | 2 |
| Adams, SH | 2 |
| Miller, MJ | 2 |
| Burrage, LC | 2 |
| Gibson, JB | 1 |
| Strenk, ME | 1 |
| Lose, EJ | 1 |
| Bick, DP | 1 |
| Elsea, SH | 2 |
| Sutton, VR | 2 |
| Sun, Q | 2 |
| Graham, BH | 2 |
| Craigen, WJ | 1 |
| Zhang, VW | 1 |
| Wong, LJ | 3 |
| Minkler, PE | 3 |
| Stoll, MS | 1 |
| Ingalls, ST | 2 |
| Kerner, J | 2 |
| Hoppel, CL | 3 |
| Roe, CR | 8 |
| Brunengraber, H | 1 |
| Kennedy, AD | 1 |
| Knoll, D | 1 |
| Love, DR | 1 |
| Shepherd, P | 1 |
| Love, JM | 1 |
| Reed, PW | 1 |
| de Hora, M | 1 |
| Webster, D | 1 |
| Jones, A | 1 |
| Deeney, JT | 1 |
| Hur, SK | 1 |
| Bankaitis, VA | 1 |
| Piccolo, BD | 1 |
| Béhin, A | 1 |
| Acquaviva-Bourdain, C | 2 |
| Souvannanorath, S | 1 |
| Streichenberger, N | 1 |
| Attarian, S | 1 |
| Bassez, G | 1 |
| Brivet, M | 3 |
| Fouilhoux, A | 1 |
| Labarre-Villa, A | 1 |
| Laquerrière, A | 1 |
| Pérard, L | 1 |
| Kaminsky, P | 1 |
| Pouget, J | 1 |
| Rigal, O | 2 |
| Vanhulle, C | 1 |
| Eymard, B | 2 |
| Vianey-Saban, C | 4 |
| Laforêt, P | 2 |
| Angelini, C | 7 |
| Nascimbeni, AC | 1 |
| Cenacchi, G | 1 |
| Tasca, E | 1 |
| Pena, LD | 1 |
| van Calcar, SC | 1 |
| Edick, MJ | 1 |
| Walsh Vockley, C | 1 |
| Leslie, N | 1 |
| Cameron, C | 1 |
| Mohsen, AW | 1 |
| Arnold, GL | 1 |
| Tan, JQ | 1 |
| Chen, DY | 1 |
| Li, ZT | 1 |
| Huang, JW | 1 |
| Yan, TZ | 1 |
| van Eunen, K | 1 |
| Volker-Touw, CM | 1 |
| Gerding, A | 1 |
| Bleeker, A | 1 |
| Wolters, JC | 1 |
| Martines, AM | 1 |
| Niezen-Koning, KE | 1 |
| Heiner, RM | 1 |
| Permentier, H | 1 |
| Groen, AK | 1 |
| Bakker, BM | 1 |
| Buist, NR | 1 |
| Sood, V | 1 |
| Rawat, D | 1 |
| Khanna, R | 1 |
| Sharma, S | 2 |
| Gupta, PK | 1 |
| Alam, S | 1 |
| Sarin, SK | 1 |
| Landau, YE | 1 |
| Chan, LM | 1 |
| Levy, HL | 1 |
| Parsonage, WA | 1 |
| Mikli, JE | 1 |
| Nisbet, JC | 1 |
| Hamilton-Craig, C | 1 |
| Marshall, GA | 1 |
| Yamamoto, Y | 1 |
| Matsui, N | 1 |
| Hiramatsu, Y | 1 |
| Miyazaki, Y | 1 |
| Nodera, H | 1 |
| Izumi, Y | 1 |
| Takashima, H | 1 |
| Kaji, R | 1 |
| Stoll, MSK | 1 |
| Bruno, C | 1 |
| Dimauro, S | 3 |
| Shchelochkov, O | 1 |
| Shaibani, A | 2 |
| Shinawi, M | 1 |
| Spiekerkoetter, U | 6 |
| Lindner, M | 2 |
| Santer, R | 2 |
| Grotzke, M | 1 |
| Baumgartner, MR | 1 |
| Boehles, H | 1 |
| Das, A | 1 |
| Haase, C | 1 |
| Hennermann, JB | 1 |
| Karall, D | 1 |
| de Klerk, H | 1 |
| Knerr, I | 1 |
| Koch, HG | 1 |
| Plecko, B | 1 |
| Schwab, KO | 1 |
| Scheible, D | 1 |
| Zschocke, J | 1 |
| Mayatepek, E | 5 |
| Wendel, U | 5 |
| Li, H | 2 |
| Fukuda, S | 3 |
| Kobayashi, H | 5 |
| Purevsuren, J | 4 |
| Mushimoto, Y | 2 |
| Maillart, E | 1 |
| Jardel, C | 1 |
| Lombès, A | 1 |
| Manoukian, AA | 1 |
| Ha, CE | 1 |
| Seaver, LH | 1 |
| Bhagavan, NV | 1 |
| Pongratz, J | 1 |
| Muntau, AC | 1 |
| Liebl, B | 1 |
| Nennstiel-Ratzel, U | 1 |
| Busch, U | 1 |
| Fingerhut, R | 1 |
| Olgemöller, B | 1 |
| Roscher, AA | 1 |
| Park, HD | 3 |
| Kim, SR | 1 |
| Ki, CS | 2 |
| Lee, SY | 2 |
| Chang, YS | 1 |
| Jin, DK | 2 |
| Park, WS | 1 |
| van Maldegem, BT | 2 |
| Duran, M | 7 |
| Smith, EH | 2 |
| Lee, NC | 1 |
| Tang, NL | 2 |
| Chien, YH | 1 |
| Chen, CA | 1 |
| Lin, SJ | 1 |
| Chiu, PC | 1 |
| Huang, AC | 1 |
| Hwu, WL | 1 |
| Lepage, N | 1 |
| Aucoin, S | 1 |
| Baruteau, J | 1 |
| Levade, T | 1 |
| Redonnet-Vernhet, I | 1 |
| Mesli, S | 1 |
| Bloom, MC | 1 |
| Broué, P | 1 |
| Eskelin, PM | 1 |
| Laitinen, KA | 1 |
| Tyni, TA | 1 |
| Thomas, C | 1 |
| McHugh, D | 1 |
| Gavrilov, D | 1 |
| Raymond, K | 1 |
| Rinaldo, P | 10 |
| Tortorelli, S | 1 |
| Highsmith, WE | 1 |
| Oglesbee, D | 1 |
| Hoflack, M | 1 |
| Caruba, C | 1 |
| Pitelet, G | 1 |
| Haas, H | 1 |
| Mas, JC | 1 |
| Paquis, V | 1 |
| Berard, E | 1 |
| Teramoto, T | 1 |
| Takayanagi, M | 2 |
| Yasuno, T | 1 |
| Kondo, N | 1 |
| Al-Hassnan, ZN | 1 |
| Imtiaz, F | 1 |
| Al-Amoudi, M | 1 |
| Rahbeeni, Z | 1 |
| Al-Sayed, M | 1 |
| Al-Owain, M | 1 |
| Al-Zaidan, H | 1 |
| Al-Odaib, A | 1 |
| Rashed, MS | 3 |
| Mendez-Figueroa, H | 1 |
| Shchelochkov, OA | 1 |
| Aagaard-Tillery, K | 1 |
| Shinawi, MS | 1 |
| Liang, WC | 2 |
| Nishino, I | 2 |
| Woo, HI | 1 |
| Lee, YW | 1 |
| Lee, DH | 1 |
| Kim, JW | 1 |
| Kim, SH | 1 |
| Sohn, YB | 1 |
| Park, SW | 1 |
| Cho, SY | 1 |
| Ji, S | 1 |
| Kim, SJ | 1 |
| Choi, EW | 1 |
| Kim, CH | 1 |
| Ko, AR | 1 |
| Yeau, S | 1 |
| Paik, KH | 1 |
| Leydiker, KB | 1 |
| Neidich, JA | 1 |
| Barr, EM | 1 |
| Puckett, RL | 1 |
| Lobo, RM | 1 |
| McGoey, RR | 1 |
| Marble, M | 1 |
| Potter, BK | 1 |
| Little, J | 1 |
| Chakraborty, P | 1 |
| Kronick, JB | 1 |
| Evans, J | 1 |
| Frei, J | 1 |
| Sutherland, SC | 1 |
| Wilson, K | 1 |
| Wilson, BJ | 1 |
| Hirschfeld, M | 1 |
| Lowe, S | 1 |
| Lambert, WE | 1 |
| Koeller, DM | 1 |
| Das, S | 1 |
| Joardar, S | 1 |
| Chatterjee, R | 1 |
| Guha, G | 1 |
| Hashmi, MA | 1 |
| Primassin, S | 2 |
| Tucci, S | 1 |
| Akamizu, T | 1 |
| Sakura, N | 1 |
| Hosoda, H | 1 |
| Iwakura, H | 1 |
| Ariyasu, H | 1 |
| Kangawa, K | 1 |
| Keeler, AM | 1 |
| Conlon, T | 1 |
| Walter, G | 2 |
| Zeng, H | 1 |
| Shaffer, SA | 1 |
| Dungtao, F | 1 |
| Erger, K | 2 |
| Cossette, T | 2 |
| Tang, Q | 1 |
| Mueller, C | 1 |
| Flotte, TR | 2 |
| Gallant, NM | 1 |
| Leydiker, K | 1 |
| Tang, H | 1 |
| Puckett, R | 1 |
| Deignan, JL | 1 |
| Neidich, J | 1 |
| Dorrani, N | 1 |
| Chang, E | 1 |
| Cederbaum, SD | 2 |
| Wang, RY | 1 |
| Tonin, AM | 1 |
| Grings, M | 1 |
| Knebel, LA | 1 |
| Zanatta, Â | 1 |
| Moura, AP | 1 |
| Ribeiro, CA | 1 |
| Leipnitz, G | 1 |
| Andresen, BS | 3 |
| Hougaard, DM | 1 |
| Christensen, E | 1 |
| Gahrn, B | 1 |
| Christensen, M | 1 |
| Bross, P | 1 |
| Vested, A | 1 |
| Simonsen, H | 1 |
| Skogstrand, K | 1 |
| Olpin, S | 1 |
| Brandt, NJ | 1 |
| Skovby, F | 1 |
| Nørgaard-Pedersen, B | 1 |
| Yang, Q | 1 |
| Manicke, NE | 1 |
| Wang, H | 1 |
| Petucci, C | 1 |
| Cooks, RG | 1 |
| Ouyang, Z | 1 |
| Sturm, M | 1 |
| Herebian, D | 1 |
| Mueller, M | 2 |
| Laryea, MD | 1 |
| Takahashi, T | 1 |
| Al-Thihli, K | 1 |
| Sinclair, G | 1 |
| Sirrs, S | 1 |
| Mezei, M | 1 |
| Nelson, J | 1 |
| Vallance, H | 1 |
| Rico Corral, MA | 1 |
| de la Vega Vázquez, JM | 1 |
| Holgado Silva, C | 1 |
| Aznar Martín, A | 1 |
| Zamora Madaría, E | 1 |
| Okun, JG | 1 |
| Kölker, S | 1 |
| Schulze, A | 1 |
| Kohlmüller, D | 1 |
| Olgemöller, K | 1 |
| Hoffmann, GF | 1 |
| Matsumoto, I | 1 |
| Naylor, E | 1 |
| Liammongkolkul, S | 1 |
| Tein, I | 3 |
| Connor, WE | 1 |
| Burlingame, T | 1 |
| Meeuws, K | 1 |
| Chace, DH | 3 |
| Kalas, TA | 1 |
| Naylor, EW | 1 |
| Olpin, SE | 2 |
| Iacobazzi, V | 3 |
| Singh, R | 1 |
| Amat di San Filippo, C | 2 |
| Palmieri, F | 3 |
| North, KN | 1 |
| Tokunaga, C | 1 |
| Vaz, FM | 1 |
| van Vlies, N | 1 |
| Overmars, H | 3 |
| Strauss, AW | 4 |
| Clark, S | 1 |
| Bischoff, C | 1 |
| Olsen, RK | 1 |
| Chakrapani, A | 1 |
| Downing, M | 1 |
| Manning, NJ | 1 |
| Sharrard, M | 1 |
| Bonham, JR | 1 |
| Muntoni, F | 1 |
| Turnbull, DN | 1 |
| Pourfarzam, M | 4 |
| Browning, MF | 1 |
| Larson, C | 1 |
| Strauss, A | 1 |
| Marsden, DL | 1 |
| Blois, B | 1 |
| Riddell, C | 1 |
| Dooley, K | 1 |
| Dyack, S | 1 |
| van der Vlies, M | 1 |
| van Woerden, CS | 1 |
| Bobu, LL | 1 |
| Djouadi, F | 1 |
| Aubey, F | 1 |
| Schlemmer, D | 1 |
| Ruiter, JP | 1 |
| Roe, DS | 4 |
| Yang, BZ | 1 |
| Struys, E | 1 |
| Sweetman, L | 1 |
| Conlon, TJ | 1 |
| Owen, R | 1 |
| Gutierrez, G | 1 |
| Goetzman, E | 1 |
| Liebig, M | 1 |
| Schymik, I | 1 |
| Ruiter, J | 3 |
| Endo, M | 1 |
| Law, LK | 1 |
| Hui, J | 1 |
| Ho, CS | 1 |
| Fok, TF | 1 |
| Lam, CW | 1 |
| Yamak, A | 1 |
| Bitar, F | 1 |
| Karam, P | 1 |
| Nemer, G | 1 |
| Wallace, M | 1 |
| Garritson, B | 1 |
| Osorio, JH | 1 |
| Gao, XL | 1 |
| Zhang, YJ | 1 |
| Yokoi, K | 1 |
| Ito, T | 1 |
| Maeda, Y | 1 |
| Nakajima, Y | 1 |
| Ueta, A | 1 |
| Nomura, T | 1 |
| Koyama, N | 1 |
| Kato, I | 1 |
| Suzuki, S | 1 |
| Kurono, Y | 1 |
| Sugiyama, N | 1 |
| Togari, H | 1 |
| Ter Veld, F | 1 |
| Knapp, AC | 1 |
| Todesco, L | 1 |
| Torok, M | 1 |
| Beier, K | 1 |
| Krähenbühl, S | 1 |
| Pellegrini, G | 1 |
| Scarlato, G | 1 |
| Moggio, M | 1 |
| Cornelio, F | 3 |
| Peluchetti, D | 2 |
| Rimoldi, M | 2 |
| Testa, D | 1 |
| Mora, M | 1 |
| Negri, S | 1 |
| DiDonato, S | 1 |
| Müller-Höcker, J | 1 |
| Pongratz, D | 2 |
| Deufel, T | 2 |
| Trijbels, JM | 3 |
| Endres, W | 1 |
| Hübner, G | 2 |
| Clark, JB | 1 |
| Hayes, DJ | 1 |
| Morgan-Hughes, JA | 1 |
| Byrne, E | 1 |
| Turnbull, DM | 6 |
| Bartlett, K | 4 |
| Stevens, DL | 1 |
| Alberti, KG | 1 |
| Gibson, GJ | 1 |
| Johnson, MA | 1 |
| McCulloch, AJ | 1 |
| Sherratt, HS | 3 |
| Künnert, B | 1 |
| Ziegan, J | 1 |
| Kühn, HJ | 1 |
| Wässer, S | 1 |
| Meier, T | 1 |
| Förster, G | 1 |
| Mahnke, PF | 1 |
| Snyder, TM | 1 |
| Little, BW | 1 |
| Roman-Campos, G | 1 |
| McQuillen, JB | 1 |
| Battistella, PA | 1 |
| Laverda, A | 1 |
| Pierobon-Bormioli, S | 1 |
| Salviati, G | 1 |
| Vergani, L | 3 |
| Haegy, JM | 1 |
| Laplatte, G | 1 |
| Gollner, JL | 1 |
| Eulry, F | 1 |
| Clement, R | 1 |
| Schneider, F | 1 |
| Buscaino, GA | 1 |
| Marolda, M | 1 |
| Borgia, A | 1 |
| Cocchiararo, M | 1 |
| Scarafile, P | 1 |
| Chapoy, PR | 1 |
| Brown, WJ | 1 |
| Stiff, JE | 1 |
| Shug, AL | 1 |
| McGarry, JD | 1 |
| Foster, DW | 1 |
| Sengers, RC | 1 |
| Bakkeren, JA | 1 |
| Stadhouders, AM | 1 |
| Egberink, GJ | 1 |
| ter Laak, HJ | 1 |
| Jaspar, HJ | 1 |
| Ozand, PT | 1 |
| Barnard, JJ | 1 |
| Govindaraju, DR | 1 |
| Sloane, AE | 1 |
| Donner, EJ | 1 |
| Lehotay, DC | 1 |
| Millington, DS | 5 |
| Kelley, RI | 1 |
| Schaefer, J | 2 |
| Jackson, S | 2 |
| Sewell, AC | 1 |
| Bender, SW | 1 |
| Wirth, S | 1 |
| Münterfering, H | 1 |
| Ijlist, L | 1 |
| Smith, ET | 1 |
| Davis, GJ | 1 |
| Van Hove, JL | 2 |
| Kahler, SG | 2 |
| Heales, SJ | 1 |
| Horiuchi, M | 2 |
| Kobayashi, K | 2 |
| Shimizu, N | 2 |
| Koizumi, T | 1 |
| Nikaido, H | 2 |
| Hayakawa, J | 2 |
| Kuwajima, M | 3 |
| Saheki, T | 3 |
| Takahira, T | 1 |
| Utsunomiya, T | 1 |
| Ishijima, M | 1 |
| Mori, H | 1 |
| Yano, K | 1 |
| Nunobiki, T | 1 |
| Eto, H | 1 |
| Poorthuis, BJ | 1 |
| Jille-Vlcková, T | 1 |
| Onkenhout, W | 1 |
| Treem, WR | 3 |
| Hale, DE | 1 |
| Stanley, CA | 8 |
| Hyams, JS | 1 |
| Chen, YT | 1 |
| Terada, N | 1 |
| Iafolla, AK | 2 |
| Ding, JH | 1 |
| Schmidt-Sommerfeld, E | 4 |
| Penn, D | 4 |
| Browning, IB | 1 |
| Lieu, YK | 1 |
| Hsu, BY | 1 |
| Price, WA | 1 |
| Corkey, BE | 1 |
| Jakobs, C | 2 |
| Kneer, J | 1 |
| Martin, D | 1 |
| Boulloche, J | 1 |
| Poll-The, BT | 1 |
| Saudubray, JM | 3 |
| Bove, KE | 1 |
| Chalmers, RA | 1 |
| English, N | 1 |
| Wigglesworth, JS | 1 |
| Huizing, M | 2 |
| Savelkoul, P | 2 |
| Ruitenbeek, W | 3 |
| van den Heuvel, L | 1 |
| Indiveri, C | 1 |
| Smeitink, J | 1 |
| Trijbels, F | 1 |
| Wanders, R | 1 |
| Köller, H | 1 |
| Stoll, G | 1 |
| Neuen-Jacob, E | 1 |
| Asaka, N | 1 |
| Yorifuji, S | 2 |
| Boles, RG | 1 |
| Buck, EA | 1 |
| Blitzer, MG | 1 |
| Platt, MS | 1 |
| Cowan, TM | 1 |
| Martin, SK | 1 |
| Yoon, H | 1 |
| Madsen, JA | 1 |
| Reyes-Mugica, M | 1 |
| Hashimoto, N | 1 |
| Suzuki, F | 1 |
| Tamai, I | 1 |
| Tsuji, A | 1 |
| Veenhuizen, P | 1 |
| van den Heuvel, LP | 1 |
| Smeitink, JA | 1 |
| Bobrowski, PJ | 1 |
| Rhead, WJ | 2 |
| Muñoz-Blanco, JL | 1 |
| Costa, CG | 1 |
| Struys, EA | 1 |
| Allers, P | 1 |
| al Aqeel, AI | 1 |
| Vreken, P | 3 |
| van Lint, AE | 2 |
| Bootsma, AH | 2 |
| van Gennip, AH | 2 |
| Hahn, SH | 1 |
| Lee, EH | 1 |
| Jung, JW | 1 |
| Hong, CH | 1 |
| Yoon, HR | 1 |
| Sims, H | 1 |
| Gibson, B | 1 |
| Thiel, C | 1 |
| Baudach, S | 1 |
| Schnackenberg, U | 1 |
| Chamoles, NA | 2 |
| Specola, N | 1 |
| Schenone, AB | 2 |
| Jorge, L | 2 |
| Guinle, A | 2 |
| Bernard, CI | 1 |
| Levandowskiy, V | 1 |
| Lavorgna, S | 2 |
| Tojo, M | 1 |
| Gunji, T | 1 |
| Koga, Y | 1 |
| Nonaka, I | 1 |
| Libert, R | 1 |
| Van Hoof, F | 1 |
| Thillaye, M | 1 |
| Vincent, MF | 1 |
| Nassogne, MC | 1 |
| de Hoffmann, E | 1 |
| Schanck, A | 1 |
| Spiekerkötter, U | 1 |
| Schwahn, B | 1 |
| Korall, H | 1 |
| Trefz, FK | 2 |
| Bernard, C | 1 |
| Levandovskiy, V | 1 |
| Fusta, M | 1 |
| Zabot, MT | 1 |
| Cox, KB | 1 |
| Hamm, DA | 1 |
| Pinkert, CA | 1 |
| Lindsey, JR | 1 |
| Wood, PA | 1 |
| Bank, WJ | 1 |
| Bonilla, E | 1 |
| Capuzzi, DM | 1 |
| Rowland, LP | 1 |
| Bosch, EP | 1 |
| Munsat, TL | 1 |
| Boudin, G | 1 |
| Mikol, J | 1 |
| Guillard, A | 1 |
| Engel, AG | 3 |
| Di Donato, S | 3 |
| Bizze, A | 1 |
| Bertagnolio, B | 2 |
| D'Angelo, A | 1 |
| Wiesmann, U | 1 |
| Esiri, MM | 1 |
| Bower, BD | 1 |
| Ross, BD | 1 |
| Aingorn, ED | 1 |
| Zhurba, LT | 1 |
| Koroleva, IA | 1 |
| Timonina, OV | 1 |
| Sitnikov, VF | 1 |
| Wieland, O | 1 |
| Pongratz, E | 1 |
| Liphardt, R | 1 |
| Almog, C | 1 |
| Fried, K | 1 |
| Reif, R | 1 |
| Zieghelboim, J | 1 |
| Lewinsohn, G | 1 |
| Uziel, G | 1 |
| Wiesmann, UN | 1 |
| Tomomura, M | 1 |
| Nakagawa, K | 1 |
| Kossak, D | 1 |
| Li, BU | 1 |
| Huang, ZH | 2 |
| Gage, DA | 2 |
| Cammann, R | 1 |
| Dunker, H | 1 |
| Schumacher, H | 1 |
| Sperner, J | 1 |
| DeLeeuw, S | 1 |
| Coates, PM | 1 |
| Vianey-Liaud, C | 2 |
| Divry, P | 2 |
| Bonnefont, JP | 1 |
| Haymond, M | 1 |
| Breningstall, GN | 1 |
| Bieber, LL | 1 |
| Sweeley, CC | 1 |
| Bell, RB | 1 |
| Brownell, AK | 1 |
| Goodman, SI | 3 |
| Frerman, FE | 1 |
| Seccombe, DW | 1 |
| Snyder, FF | 1 |
| De Vivo, DC | 1 |
| Bierman, F | 1 |
| Pulver, P | 1 |
| De Meirleir, LJ | 1 |
| Cvitanovic-Sojat, L | 1 |
| Pagon, RA | 1 |
| Bertini, E | 1 |
| Dionisi-Vici, C | 1 |
| Servidei, S | 1 |
| Harpey, JP | 1 |
| Charpentier, C | 1 |
| Paturneau-Jouas, M | 1 |
| O'Shea, JJ | 1 |
| Miller, LV | 1 |
| Fennessey, PV | 1 |
| Whelan, DT | 1 |
| Hill, RE | 1 |
| Tanaka, K | 1 |
| Sahgal, V | 1 |
| Solomon, R | 1 |
| Watmough, NJ | 1 |
| Shepherd, IM | 1 |
| Mathieu, M | 1 |
| Kuntzer, T | 1 |
| Robert, D | 1 |
| Cox, J | 1 |
| Meier, C | 1 |
| Schwartz, A | 1 |
| Guelpa, G | 1 |
| Pfister, CE | 1 |
| Trevisan, C | 1 |
| Isaya, G | 1 |
| Pegolo, G | 1 |
| Gilbert, EF | 1 |
| Mitchell, G | 1 |
| de Klerk, JB | 1 |
| de Jager, JP | 1 |
| Hofkamp, M | 1 |
| Bruinvis, L | 2 |
| Ketting, D | 2 |
| Wadman, SK | 2 |
| van Vossen, R | 1 |
| Beckeringh, TE | 1 |
| Dorland, L | 1 |
| Martin, JJ | 1 |
| Vercruyssen, A | 1 |
| de Barsy, T | 1 |
| Ceuterick, C | 1 |
| Vaisrub, S | 1 |
| DiMauro, PM | 1 |
| Bressler, R | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Acute Nutritional Ketosis in VLCAD Deficiency: Testing the Metabolic Base for Therapeutic Use[NCT03531554] | 5 participants (Actual) | Interventional | 2016-04-01 | Completed | |||
| Phase 2 Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorders[NCT01379625] | Phase 2 | 32 participants (Actual) | Interventional | 2011-09-30 | Completed | ||
| A Phase 2A/2B Placebo-controlled Randomised Clinical Trial to Test the Ability of Triheptanoin to Protect Primary Airway Epithelial Cells Obtained From Participants With Ataxia-telangiectasia Against Death Induced by Glucose Deprivation[NCT04513002] | Phase 2 | 30 participants (Actual) | Interventional | 2022-03-15 | Completed | ||
| Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy[NCT02635269] | 60 participants (Actual) | Interventional | 2016-01-31 | Active, not recruiting | |||
| Metabolic Consequences of CPT1A Deficiency in Alaska Native Children[NCT00653666] | 12 participants (Anticipated) | Interventional | 2007-10-31 | Completed | |||
| Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over [NCT03642860] | Phase 2 | 3 participants (Actual) | Interventional | 2018-08-15 | Terminated (stopped due to Problems with recruitment) | ||
| Fasting Tolerance in Patients With Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the First Six Months of Life: an Investigator-initiated Human Pilot-study[NCT03761693] | 20 participants (Anticipated) | Interventional | 2019-05-15 | Recruiting | |||
| Correlation Between Carnitine Deficiency and Hypoglycemic Events in Type I Diabetes; Effects of Carnitine Supplementation on Hypoglycemic Events in Type I Diabetes[NCT00351234] | 200 participants (Actual) | Observational | 2004-10-31 | Completed | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
Change in resting ejection fraction over 4 month treatment period (NCT01379625)
Timeframe: 4 months
| Intervention | percent (Mean) |
|---|---|
| Medium Chain Triglyceride (MCT) | -1.91 |
| Triheptanoin | 2.14 |
Total energy expenditure will be measured by doubly labeled water and resting energy expenditure will be measured by indirect calorimetry at baseline and again after 4 months of either MCT or trihpetanoin treatment. (NCT01379625)
Timeframe: change from baseline after 4 months of treatment
| Intervention | kcal/day (Mean) |
|---|---|
| Medium Chain Triglyceride (MCT) | -73 |
| Triheptanoin | 107 |
Subjects will complete a submaximal treadmill exercise study at baseline. Exercise heart heart, ventilation and perceived exertion will be measured. Subjects will be randomized to MCT or triheptanoin supplementation for 4 months. At the end of treatment, the exercise test will be repeated keeping work performed constant. Change in exercise heart rate, ventilation and exertion will be compared between groups. (NCT01379625)
Timeframe: change from baseline to 4 months of treatment
| Intervention | beats per minute (Mean) |
|---|---|
| Medium Chain Triglyceride (MCT) | -0.1 |
| Triheptanoin | -12.6 |
32 reviews available for carnitine and Lipid Metabolism, Inborn Error
| Article | Year |
|---|---|
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Carnitine O-Palmitoyltransferase; Congenital Bone Mar | 2022 |
Lipid storage myopathies: Current treatments and future directions.
Topics: Cardiomyopathies; Carnitine; Humans; Hyperammonemia; Lipid Metabolism; Lipid Metabolism, Inborn Erro | 2018 |
Acylcarnitines--old actors auditioning for new roles in metabolic physiology.
Topics: Carnitine; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Metabolic Diseases; Metabolic | 2015 |
Historical Perspective on Clinical Trials of Carnitine in Children and Adults.
Topics: Administration, Intravenous; Adult; Cardiomyopathies; Carnitine; Carnitine Acyltransferases; Child; | 2016 |
Lipid storage myopathies.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Carnitine O-Palmitoyltransferase; Electron Transport Complex I; E | 2008 |
Lipid storage myopathy.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Diagnosis, Differential; Humans; Ichthyosiform Erythroderma, Cong | 2011 |
State of the art in muscle lipid diseases.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Cardiomyopathies; Carnitine; Carnitine O-Palmitoyltransferase; H | 2010 |
Role of carnitine and fatty acid oxidation and its defects in infantile epilepsy.
Topics: Acyl-CoA Dehydrogenase; Anticonvulsants; Carnitine; Carrier Proteins; Chemical and Drug Induced Live | 2002 |
Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Specimen Collection; Carnitine; Hematologic | 2003 |
Implications of impaired ketogenesis in fatty acid oxidation disorders.
Topics: Animals; Carnitine; Fatty Acids; Humans; Ketone Bodies; Lipid Metabolism, Inborn Errors; Oxidation-R | 2004 |
Disorders of carnitine transport and the carnitine cycle.
Topics: Animals; Biological Transport; Carnitine; Humans; Lipid Metabolism, Inborn Errors; Mitochondria | 2006 |
[Determination of normal acylcarnitine levels in a healthy pediatric population as a diagnostic tool in inherited errors of mitochondrial fatty acid beta-oxidation].
Topics: Adolescent; Carnitine; Child; Child, Preschool; Fatty Acids; Female; Humans; Infant; Lipid Metabolis | 2007 |
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Cardiomyopathies; Carnitine; Clinical Enzyme Tests; Fatal Outcome; | 1994 |
The changing face of disorders of fatty acid oxidation.
Topics: Carnitine; Child; DNA Mutational Analysis; Fasting; Fatty Acids; Forecasting; Humans; Infant Mortali | 1994 |
Carnitine disorders.
Topics: Carnitine; Humans; Lipid Metabolism, Inborn Errors | 1995 |
[Carnitine transporter defect].
Topics: Biological Transport; Carnitine; Carnitine Acyltransferases; Carnitine O-Palmitoyltransferase; Carri | 1998 |
[Carnitine palmitoyltransferase I(CPT1) deficiency].
Topics: Biomarkers; Carnitine; Carnitine O-Palmitoyltransferase; Diagnosis, Differential; Humans; Lipid Meta | 1998 |
[Lipidic myopathies].
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Electron Transport; Fatty Acid Desaturases; Humans; Lip | 1998 |
New developments in the pathophysiology, clinical spectrum, and diagnosis of disorders of fatty acid oxidation.
Topics: Acetyl Coenzyme A; Carnitine; Fatty Acids; Female; Fetal Diseases; Humans; Infant; Lipid Metabolism, | 2000 |
[Secondary carnitine deficiency].
Topics: Carnitine; Carrier Proteins; Diagnosis, Differential; Humans; Intestinal Absorption; Kidney; Lipid M | 2002 |
[Enzymes of mitochondrial beta-oxidation].
Topics: Carnitine; Energy Metabolism; Fatty Acids; Humans; Lipid Metabolism, Inborn Errors; Mitochondria; Mi | 2002 |
Metabolic myopathies.
Topics: alpha-Glucosidases; AMP Deaminase; Carnitine; Carnitine O-Palmitoyltransferase; Creatine Kinase; Fem | 1979 |
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.
Topics: Biological Transport; Cardiomyopathies; Carnitine; Cells, Cultured; Child; Child, Preschool; Coma; F | 1991 |
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy.
Topics: Biological Transport, Active; Cardiomyopathies; Carnitine; Child; Child, Preschool; Fatty Acids; Fem | 1990 |
Sudden infant death syndrome and inherited disorders of fatty acid beta-oxidation.
Topics: Adipates; Adolescent; Carnitine; Child; Child, Preschool; Fatty Acid Desaturases; Fatty Acids; Human | 1990 |
Defects of fatty-acid oxidation in muscle.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Carnitine O-Palmitoyltransferase; Electron-T | 1990 |
Defects of fatty acid oxidation in skeletal muscle.
Topics: Acyl Coenzyme A; Carnitine; Carnitine O-Palmitoyltransferase; Chromatography, High Pressure Liquid; | 1987 |
The inborn errors of mitochondrial fatty acid oxidation.
Topics: Carnitine; Diagnosis, Differential; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Fat | 1987 |
New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Carnitine O-Palmitoyltransferase; Child; Fatty Acid Desaturases; | 1987 |
Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency.
Topics: Acyltransferases; Adolescent; Adult; Age Factors; Carnitine; Carnitine O-Palmitoyltransferase; Child | 1987 |
Carnitine therapy in disorders of propionate metabolism.
Topics: Carnitine; Child; Humans; Ketone Bodies; Lipid Metabolism, Inborn Errors; Methylmalonic Acid; Propio | 1986 |
Carnitine deficiency.
Topics: Animals; Carnitine; Carnitine O-Palmitoyltransferase; Chick Embryo; Humans; Lipid Metabolism, Inborn | 1985 |
6 trials available for carnitine and Lipid Metabolism, Inborn Error
| Article | Year |
|---|---|
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Topics: Adolescent; Adult; Beverages; Blood Glucose; Carnitine; Congenital Bone Marrow Failure Syndromes; Cr | 2020 |
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Caprylates; Cardiomyopathies; Carnitine; Chil | 2017 |
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Caprylates; Cardiomyopathies; Carnitine; Chil | 2017 |
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Caprylates; Cardiomyopathies; Carnitine; Chil | 2017 |
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Caprylates; Cardiomyopathies; Carnitine; Chil | 2017 |
Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Carnitine; Dietary Supplements; Exercise; Exercise Test; | 2013 |
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; Flavi | 2010 |
Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.
Topics: Alaska; American Indian or Alaska Native; Body Mass Index; Carnitine; Carnitine O-Palmitoyltransfera | 2011 |
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Carnitine; Child; Child, Preschool; Diet Therapy; Energy Intake; F | 2003 |
219 other studies available for carnitine and Lipid Metabolism, Inborn Error
| Article | Year |
|---|---|
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acyl-CoA Dehydrogenase; Cardiomyopathies; Carnitine; Child; Child, | 2021 |
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population.
Topics: Acyl-CoA Dehydrogenase; Carnitine; China; Fatty Acids; Genetic Variation; Humans; Infant, Newborn; L | 2022 |
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Fatty Acids; High-Throughput Nucleotide Sequencing; Humans; Infan | 2022 |
Tandem Mass Spectrometry for the Analysis of Plasma/Serum Acylcarnitines for the Diagnosis of Certain Organic Acidurias and Fatty Acid Oxidation Disorders.
Topics: Carnitine; Carnitine Acyltransferases; Fatty Acids; Humans; Lipid Metabolism, Inborn Errors; Tandem | 2022 |
Screening for newborn fatty acid oxidation disorders in Chongqing and the follow-up of confirmed children.
Topics: Carnitine; Fatty Acids; Female; Follow-Up Studies; Humans; Infant, Newborn; Lipid Metabolism, Inborn | 2022 |
Screening and follow-up results of neonate medium-chain acyl-CoA dehydrogenase deficiency in Zibo, Shandong province.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Follow-Up Studies; Humans; Lipid Metabolism, Inborn Errors; Mutat | 2022 |
Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Cardiomyopathies; Carnitine; Child; Fatt | 2022 |
Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect.
Topics: Cardiomegaly; Carnitine; Carnitine O-Palmitoyltransferase; Fatty Acids; Female; Fetus; Humans; Infan | 2022 |
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Topics: Acyl-CoA Dehydrogenase; Amino Acids; Carnitine; Genetic Association Studies; Genotype; Humans; Infan | 2023 |
[Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency].
Topics: Acyl-CoA Dehydrogenase; Carnitine; Child; Genetic Testing; Humans; Lipid Metabolism, Inborn Errors; | 2023 |
[A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy].
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adult; Carnitine; Fatty Acids; Female; Humans; Hyperemesis Gravi | 2023 |
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Topics: Acyl-CoA Dehydrogenase; Carnitine; Carnitine O-Palmitoyltransferase; China; Electron-Transferring Fl | 2019 |
Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study.
Topics: Adolescent; Adult; Carnitine; Child; China; Electron-Transferring Flavoproteins; Female; Humans; Hyp | 2019 |
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Asian People; Carnitine; China; Congenital Bone Marrow Failure S | 2020 |
Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Carnitine; Child; Child, Preschool; Female; Genetic Varia | 2020 |
Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?
Topics: Acyl-CoA Dehydrogenase; Antioxidants; Caprylates; Carnitine; Cell Death; Fibroblasts; Genotype; Glyc | 2020 |
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Child; Child, Preschool; Congenital Bone Marrow Failu | 2020 |
Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population.
Topics: Cardiomyopathies; Carnitine; Carnitine O-Palmitoyltransferase; China; Congenital Bone Marrow Failure | 2020 |
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Cardiomyopathies; Carnitine; Cohort Studies; Congenital Bone Mar | 2020 |
Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; China; Congenital Bone Marrow Failure Syndromes; Huma | 2020 |
Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.
Topics: Carnitine; Fatty Acids; Humans; Lipid Metabolism, Inborn Errors; Oxidation-Reduction; Triglycerides | 2021 |
Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Child; Emergencies; Fluid Therapy; Glucose; Humans; Hypoglycemia; | 2021 |
[Newborn Screening Program in the Community of Madrid: evaluation of positive cases.]
Topics: Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Carnitine; Cities; Female; Humans; Inf | 2020 |
Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn.
Topics: Acidosis, Lactic; Arrhythmias, Cardiac; Carnitine; Female; Humans; Hyperammonemia; Infant, Newborn; | 2021 |
[Analysis of a child with carnitine palmitoyl transferase 1A deficiency due to variant of CPT1A gene].
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Child; DNA Mutational Analysis; Female; Humans; Hypogly | 2021 |
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
Topics: Carnitine; Carnitine Acyltransferases; Diet, Fat-Restricted; Dietary Supplements; Humans; Infant, Ne | 2021 |
[Clinical features and gene mutations of 6 patients with carnitine palmitoyltransferase 1A deficiency].
Topics: Aged; Carnitine; Carnitine O-Palmitoyltransferase; Child; Child, Preschool; Female; Humans; Hypoglyc | 2021 |
Cardiolipin Stabilizes and Increases Catalytic Efficiency of Carnitine Palmitoyltransferase II and Its Variants S113L, P50H, and Y479F.
Topics: Cardiolipins; Carnitine; Carnitine O-Palmitoyltransferase; Humans; Kinetics; Lipid Metabolism, Inbor | 2021 |
Quantitation and evaluation of perinatal medium-chain and long-chain acylcarnitine blood concentrations in 12,000 full-term breastfed newborns.
Topics: Biomarkers; Birth Weight; Breast Feeding; Carnitine; Female; Follow-Up Studies; Humans; Infant, Newb | 2021 |
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.
Topics: Carnitine; Carnitine Acyltransferases; Female; Humans; Lipid Metabolism, Inborn Errors; Membrane Tra | 2021 |
[Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].
Topics: Acyl-CoA Dehydrogenase; Cardiomyopathies; Carnitine; China; Follow-Up Studies; Humans; Hyperammonemi | 2017 |
Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Analysis of Variance; Carnitine; Child; Child, Preschool; Fatty | 2017 |
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
Topics: Acyl-CoA Dehydrogenase; Carboxylic Acids; Carnitine; Dried Blood Spot Testing; Female; Humans; Infan | 2018 |
An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
Topics: Acyl-CoA Dehydrogenase; Butyryl-CoA Dehydrogenase; Carnitine; Ethnicity; Female; Gene Frequency; Gen | 2018 |
Persistent hypoglycemia associated with lipid storage myopathy in a paint foal.
Topics: Animals; Carnitine; Diagnosis, Differential; Fatal Outcome; Female; Horse Diseases; Horses; Hypoglyc | 2018 |
Tissue acylcarnitine status in a mouse model of mitochondrial β-oxidation deficiency during metabolic decompensation due to influenza virus infection.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Cardiomyopathies; Carnitine; Congenital Bone Marrow Fai | 2018 |
Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients.
Topics: Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brazil; Car | 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 | 2019 |
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Amino Acid Metabolism, Inborn Errors; Ca | 2019 |
[Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP].
Topics: Acyl-CoA Dehydrogenase; Carnitine; China; Follow-Up Studies; Humans; Infant, Newborn; Lipid Metaboli | 2019 |
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency].
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; China; Congenital Bone Marrow Failure Syndromes; Huma | 2019 |
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Female; Genotype; Humans; Infant, Newborn; Lipid Metabolism, Inbo | 2019 |
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Child; Child, Preschool; Congenital Bone | 2019 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population.
Topics: Acyl-CoA Dehydrogenase; Biomarkers; Carnitine; Child, Preschool; China; Female; Genetic Markers; Hum | 2019 |
Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists.
Topics: Adult; Anti-Bacterial Agents; Carnitine; Carnitine O-Palmitoyltransferase; Escherichia coli Infectio | 2019 |
Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress.
Topics: Blood Glucose; Carnitine; Child; Child, Preschool; Fasting; Female; Homeostasis; Humans; Hypoglycemi | 2019 |
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Child; Child, Preschool; Developmental Disabilities; Fatty Acids; | 2013 |
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Topics: Acyl-CoA Dehydrogenase; Cardiomyopathies; Carnitine; Dietary Supplements; Female; Genetic Associatio | 2013 |
Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.
Topics: Carnitine; Carnitine Acyltransferases; Carnitine O-Palmitoyltransferase; Cells, Cultured; Fibroblast | 2013 |
The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Anti-Bacterial Agents; Carnitine; Cells, Cultured; Congenital Bo | 2013 |
ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Acyl-CoA Dehydrogenases; Carnitine; Catalysis; Cell Line; Congen | 2014 |
Resuscitation of a neonate with medium chain acyl-coenzyme a dehydrogenase deficiency using extracorporeal life support.
Topics: Acyl-CoA Dehydrogenase; Cardiopulmonary Resuscitation; Carnitine; Extracorporeal Membrane Oxygenatio | 2014 |
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Congenital Bone Marrow Failure Syndromes; Demography; | 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-S | 2014 |
Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbox | 2015 |
Metabolic heritability at birth: implications for chronic disease research.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Adult; Carnitine; Chronic Disease; Female; Humans; | 2014 |
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Age Factors; Biomarkers; Blood Glucose; Calorimetry, Indirect; Car | 2015 |
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetyl-CoA C-Acetyltransferase; Base Sequence; Carnitine; Child; D | 2014 |
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Child; Family; Female; Fibroblasts; Humans; Infant; I | 2015 |
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Biomarkers; Carnitine; False Positive Reactions; He | 2014 |
Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.
Topics: Bezafibrate; Carnitine; Carnitine Acyltransferases; Cells, Cultured; Child, Preschool; Fatal Outcome | 2015 |
An audit of newborn screening procedure: impact on infants presenting clinically before results are available.
Topics: Amino Acid Metabolism, Inborn Errors; Australia; Carnitine; Female; Health Personnel; Humans; Infant | 2015 |
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Acyl-CoA Dehydrogenases; Amniotic Fluid; Ascorbic Acid; Asian Pe | 2015 |
Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.
Topics: Acetylcysteine; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Amino Acid Sequence; Car | 2015 |
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Amino Acid Sequence; Base Sequence; Carnitine; Conge | 2015 |
The Carnitine Palmitoyl Transferase (CPT) System and Possible Relevance for Neuropsychiatric and Neurological Conditions.
Topics: Animals; Brain; Cardiovascular Diseases; Carnitine; Carnitine O-Palmitoyltransferase; Ceramides; Dia | 2015 |
Refractory Hyperlactatemia with Organ Insufficiency in Lipid Storage Myopathy.
Topics: Adolescent; Bronchitis; Carnitine; Female; Humans; Hyperlactatemia; Lipid Metabolism, Inborn Errors; | 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.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Alleles; Carnitine; Computer Simulation; Congenital Bone Marrow | 2015 |
Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".
Topics: Acetyl-CoA C-Acyltransferase; Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Betaine; | 2015 |
Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15 years Experience.
Topics: Administration, Oral; Adolescent; Adult; Carnitine; Child; Child, Preschool; Citric Acid; Fatty Acid | 2015 |
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Child; Child, Preschool; Congenital Bone | 2016 |
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Case-Control Studies; Congenital Bone Marrow Failure | 2016 |
Inborn Errors of Long-Chain Fatty Acid β-Oxidation Link Neural Stem Cell Self-Renewal to Autism.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetyl-CoA C-Acyltransferase; Animals; Autistic Disorder; Biocatal | 2016 |
Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Carnitine O-Palmitoyltransferase; Case-Co | 2016 |
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Topics: Adult; Age of Onset; Biopsy; Carnitine; Electromyography; Electron-Transferring Flavoproteins; Exerc | 2016 |
Lipolysis and lipophagy in lipid storage myopathies.
Topics: Adolescent; Adult; Aged; Autophagy; Cardiomyopathies; Carnitine; Carnitine O-Palmitoyltransferase; C | 2016 |
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Child; Child, Preschool; Congenital Bone | 2016 |
[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].
Topics: Acyl-CoA Dehydrogenase; Carnitine; Female; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn | 2016 |
Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders.
Topics: Acyl-CoA Dehydrogenase; Animals; Carnitine; Computational Biology; Computer Simulation; Disease Mode | 2016 |
Study of Carnitine/Acylcarnitine and Amino Acid Profile in Children and Adults With Acute Liver Failure.
Topics: Adolescent; Adult; Amino Acids; Biomarkers; Carnitine; Carnitine O-Palmitoyltransferase; Child; Chil | 2017 |
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Boston; Cardiomyopath | 2017 |
A 61-Year-Old Woman with Muscle Fatigue and Increased Cardiac Troponin.
Topics: Carnitine; Creatine Kinase; Female; Humans; Lipid Metabolism, Inborn Errors; Middle Aged; Multiple A | 2017 |
Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.
Topics: Biomarkers; Cardiomyopathies; Carnitine; Charcot-Marie-Tooth Disease; Diagnosis, Differential; Disea | 2017 |
Correcting false positive medium-chain acyl-CoA dehydrogenase deficiency results from newborn screening; synthesis, purification, and standardization of branched-chain C8 acylcarnitines for use in their selective and accurate absolute quantitation by UHPL
Topics: Acyl-CoA Dehydrogenase; Carnitine; Chromatography, High Pressure Liquid; False Positive Reactions; H | 2017 |
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Calcium Channel Blockers; Carnitine; DNA Mutational Analysis; Fe | 2009 |
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Child, Preschool; Consensus Development Conferences a | 2009 |
Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Bezafibrate; Carnitine; Cells, Cultured; | 2010 |
[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 M | 2010 |
A neonatal death due to medium-chain acyl-CoA dehydrogenase deficiency: utilization of the neonatal metabolic screen in a functional approach to sudden unexplained infant death.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Gene Deletion; Humans; Infant, Newborn; Lipid Metabolism, Inborn | 2009 |
Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].
Topics: Carnitine; Case-Control Studies; Heterozygote; Humans; Infant, Newborn; Lipid Metabolism, Inborn Err | 2009 |
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Cardiomyopathies; Carnitine; DNA Mutational Analysis; Humans; Infa | 2009 |
Acylcarnitine analysis by tandem mass spectrometry.
Topics: Carnitine; Flow Injection Analysis; Humans; Lipid Metabolism, Inborn Errors; Spectrometry, Mass, Ele | 2010 |
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
Topics: Adult; Cardiomyopathy, Dilated; Carnitine; False Negative Reactions; Humans; Infant, Newborn; Lipid | 2010 |
Measurement of plasma/serum acylcarnitines using tandem mass spectrometry.
Topics: Carnitine; Humans; Lipid Metabolism, Inborn Errors; Pediatrics; Spectrometry, Mass, Electrospray Ion | 2010 |
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Topics: Adolescent; Carnitine; Child; Fatty Acids; Female; Fibroblasts; Heat Stress Disorders; Humans; Lipid | 2010 |
Hypoketotic hypoglycemia with myolysis and hypoparathyroidism: an unusual association in medium chain acyl-CoA desydrogenase deficiency (MCADD).
Topics: Acute Kidney Injury; Acyl-CoA Dehydrogenase; Carnitine; Child, Preschool; Female; Glucose; Humans; H | 2009 |
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication?
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acute Disease; Adult; Carnitine; Fatty Liver; Female; Humans; Lipi | 2010 |
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Alleles; Carnitine; Child; Child, Preschool; DNA Mutation | 2010 |
[Infant coma in the emergency department: 2 cases of MCAD deficiency].
Topics: Acyl-CoA Dehydrogenase; Carnitine; Coma; Emergency Service, Hospital; Female; Humans; Infant; Lipid | 2010 |
Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.
Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Carniti | 2010 |
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Topics: Acyl-CoA Dehydrogenase; Biomarkers; Carnitine; DNA Mutational Analysis; Dried Blood Spot Testing; Fo | 2010 |
Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Female; Humans; Infant, Newborn; Lipid Metabolism, In | 2010 |
Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Asian People; Base Sequence; Biomarkers; Carnitine; DNA Mutational Analysis; | 2011 |
Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Base Sequence; Carnitine; DNA Mutational Analysis; Female; Genetic Predispos | 2011 |
Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Female; Homozygote; Humans; Infant, Newborn; Lipid Metabolism, In | 2011 |
Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Congenital Bone Marrow Failure Syndromes; Female; Gen | 2011 |
Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Canada | 2012 |
Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Anticonvulsants; Basal Ganglia; Brain; Brain Ischemia; Carnitine; Cerebral I | 2011 |
Hepatic and muscular effects of different dietary fat content in VLCAD deficient mice.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Congenital Bone Marrow Failure Syndromes; Di | 2011 |
Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II.
Topics: Acyl-CoA Dehydrogenase; Adult; Blood Chemical Analysis; Carnitine; Case-Control Studies; Child; Chil | 2012 |
Long-term correction of very long-chain acyl-coA dehydrogenase deficiency in mice using AAV9 gene therapy.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Congenital Bone Marrow Failure Syndromes; De | 2012 |
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Topics: Acyl Coenzyme A; Acyl-CoA Dehydrogenase; California; Carnitine; Female; Follow-Up Studies; Humans; I | 2012 |
Disruption of redox homeostasis in cerebral cortex of developing rats by acylcarnitines accumulating in medium-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; alpha-Tocopherol; Animals; Carnitine; Cerebral Cortex; Glutathione; Homeosta | 2012 |
MCAD deficiency in Denmark.
Topics: Acyl-CoA Dehydrogenase; Alleles; Base Sequence; Carnitine; Denmark; Family; Female; Genetic Associat | 2012 |
Direct and quantitative analysis of underivatized acylcarnitines in serum and whole blood using paper spray mass spectrometry.
Topics: Carnitine; Dried Blood Spot Testing; Humans; Infant, Newborn; Limit of Detection; Lipid Metabolism, | 2012 |
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.
Topics: Acyl Coenzyme A; Acyl-CoA Dehydrogenase; Carnitine; Chromatography, High Pressure Liquid; Genotype; | 2012 |
Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.
Topics: Biological Transport; Cardiomyopathies; Carnitine; Carnitine Acyltransferases; Carnitine O-Palmitoyl | 2013 |
Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis.
Topics: Adolescent; Adult; Biopsy; Carnitine; Carnitine O-Palmitoyltransferase; Dried Blood Spot Testing; Fa | 2014 |
[Carnitine deficiency myopathy: a case of late diagnosis].
Topics: Adult; Carnitine; Female; Humans; Lipid Metabolism, Inborn Errors; Muscular Diseases; Syndrome | 2002 |
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Carnitine; Cells, Cultured; Fibroblasts; Humans; In | 2002 |
Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Cardiomyopathy, Hypertrophic; Carnitine; Fatal Outcome; Fatty Acid | 2002 |
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.
Topics: Acetylcarnitine; Carnitine; Carnitine Acyltransferases; Child, Preschool; Consanguinity; Dicarboxyli | 2004 |
Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Chromatography, High Pressure Liquid; Humans; Lipid Met | 2005 |
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Bile; Carnitine; Disease Models, Animal; Homeostasis; H | 2005 |
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Cardiomyopathies; Carnitine; Exons; Fatty Acids; Fibroblasts; Ho | 2005 |
Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Genotype; Humans; Infant, Newborn; Lipid Metabolism, | 2005 |
Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation.
Topics: Acyl-CoA Dehydrogenase; Alleles; Carnitine; DNA Mutational Analysis; Fatty Acids; Heterozygote; Huma | 2005 |
The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.
Topics: Alleles; Butyryl-CoA Dehydrogenase; Carnitine; Fatty Acids; Genetic Predisposition to Disease; Genet | 2005 |
Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Bezafibrate; Blotting, Western; Carnitine; DNA Primers; Dose-Res | 2005 |
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetyl-CoA C-Acyltransferase; Acyl-CoA Dehydrogenase, Long-Chain; | 2006 |
Systemic correction of a fatty acid oxidation defect by intramuscular injection of a recombinant adeno-associated virus vector.
Topics: Animals; Butyryl-CoA Dehydrogenase; Carnitine; Cell Line; Dependovirus; DNA, Recombinant; Fatty Acid | 2006 |
Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Biomarkers; Carnitine; Cohort Studies; Fatty Acids; Humans; Infa | 2006 |
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders.
Topics: Carnitine; Fatty Acids; Humans; Infant; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; | 2007 |
A novel functional assay for simultaneous determination of total fatty acid beta-oxidation flux and acylcarnitine profiling in human skin fibroblasts using (2)H(31)-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometry.
Topics: Carnitine; Cell Line; Deuterium; Fatty Acids; Fibroblasts; Humans; Lipid Metabolism, Inborn Errors; | 2007 |
Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation.
Topics: Base Sequence; Cardiomyopathy, Dilated; Carnitine; Child; Child, Preschool; Codon, Nonsense; DNA, Co | 2007 |
Choice of oils for essential fat supplements can enhance production of abnormal metabolites in fat oxidation disorders.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Cell Line; Diet Therapy; Dietary Fats; Energy Intake; | 2007 |
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Female; Humans | 2007 |
Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Asian People; Blood Glucose; Carnitine; Child; Child, Preschool; Diagnostic | 2007 |
Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Betaine; Carnitine; Cell Line, Tumor; Cell Proliferatio | 2008 |
Effect of carnitine deprivation on carnitine homeostasis and energy metabolism in mice with systemic carnitine deficiency.
Topics: 3-Hydroxybutyric Acid; Adenosine Triphosphate; Animals; Body Weight; Carnitine; Energy Metabolism; F | 2008 |
A hereditary case of lipid storage myopathy with carnitine deficiency. Ultrastructural observation of muscle tissue in parents.
Topics: Adult; Biopsy; Carnitine; Glycogen; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Liver | 1980 |
Systemic carnitine deficiency with peripheral nerve involvement morphological and biochemical study.
Topics: Adult; Carnitine; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Liver; Male; Mitochondr | 1981 |
Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle.
Topics: Carnitine; Cytochrome-c Oxidase Deficiency; Female; Histocytochemistry; Humans; Hypertrophy; Infant; | 1983 |
Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation.
Topics: Adolescent; Adult; Carnitine; Female; Humans; Lipid Metabolism, Inborn Errors; Male; Metabolism, Inb | 1984 |
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.
Topics: Acyl-CoA Dehydrogenases; Butyryl-CoA Dehydrogenase; Carnitine; Fasting; Female; Humans; Ketone Bodie | 1984 |
[Metabolic triglyceride storage disorders. A report of 2 cases of systemic carnitine deficiency].
Topics: Carnitine; Female; Humans; Infant; Infant, Newborn; Kidney; Lipid Metabolism, Inborn Errors; Liver; | 1984 |
Successful treatment of familial idiopathic lipid storage myopathy with L-carnitine and modified lipid diet.
Topics: Carnitine; Humans; Lipid Metabolism, Inborn Errors; Male; Middle Aged; Muscles; Muscular Diseases; P | 1982 |
Fatal lipid storage with abnormal mitochondria in an infant.
Topics: Brain Diseases, Metabolic; Carnitine; Glycogen; Humans; Infant; Lipid Metabolism; Lipid Metabolism, | 1981 |
[Exercise-induced malignant hyperthermia in a patient with familial ichthyosis vulgaris. Muscular carnitine deficiency as contributing factor (author's transl)].
Topics: Adult; Carnitine; Humans; Ichthyosis; Lipid Metabolism, Inborn Errors; Male; Malignant Hyperthermia; | 1982 |
"Lipid storage myopathy" with muscle carnitine deficiency only.
Topics: Adult; Blood Pressure; Carnitine; Heart Rate; Humans; Lipid Metabolism, Inborn Errors; Male; Muscles | 1982 |
Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome.
Topics: Carnitine; Child, Preschool; Diagnosis, Differential; Humans; Lipid Metabolism, Inborn Errors; Liver | 1980 |
Systemic carnitine deficiency.
Topics: Carnitine; Child, Preschool; Diet; Fatty Acids; Humans; Lipid Metabolism, Inborn Errors; Male; Muscl | 1980 |
Successful carnitine treatment in a non-carnitine-deficient lipid storage myopathy.
Topics: Biopsy; Carnitine; Female; Humans; Infant; Lipid Metabolism, Inborn Errors; Muscles; Muscular Diseas | 1980 |
Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acylation; Bile; Carnitine; Child; Fatty Acids; Glutaryl-CoA Dehyd | 1995 |
Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetyl-CoA C-Acetyltransferase; Acetyl-CoA C-Acyltransferase; Carn | 1995 |
Fatty acid oxidation in peripheral blood cells: characterization and use for the diagnosis of defects of fatty acid oxidation.
Topics: Acylation; Blood Cells; Carnitine; Case-Control Studies; Cell Membrane Permeability; Child; Esters; | 1995 |
Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disorders.
Topics: Acyl Coenzyme A; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Carbon Radioisotopes; C | 1994 |
Medium-chain acylcoenzyme-A dehydrogenase deficiency. Not just another Reye syndrome.
Topics: Acyl-CoA Dehydrogenase; Blood Chemical Analysis; Brain Edema; Carnitine; Cause of Death; Chromosomes | 1993 |
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia.
Topics: Acetylcarnitine; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Amino Acid Metabolism, Inborn Erro | 1994 |
Primary defect of juvenile visceral steatosis (jvs) mouse with systemic carnitine deficiency is probably in renal carnitine transport system.
Topics: Absorption; Animals; Biological Transport; Carnitine; Female; Heterozygote; Homozygote; In Vitro Tec | 1994 |
Specific myocardial disease caused by multisystemic triglyceride storage in Jordans' anomaly.
Topics: Adult; Cardiomyopathy, Dilated; Carnitine; Female; Humans; Leukocytes; Lipid Metabolism, Inborn Erro | 1993 |
Determination of acylcarnitines in urine of patients with inborn errors of metabolism using high-performance liquid chromatography after derivatization with 4'-bromophenacylbromide.
Topics: Acetophenones; Acetylcarnitine; Acyl-CoA Dehydrogenases; Amino Acid Metabolism, Inborn Errors; Carni | 1993 |
Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acute Disease; Adult; Carnitine; Cells, Cultured; Child; Child, Pr | 1994 |
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Carnitine; DNA Mutational Analysis; Female; Heteroz | 1993 |
Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Chromatography, High Pressure Liquid; Fatty Acid Desaturases; Hum | 1993 |
Familial infantile apnea and immature beta oxidation.
Topics: Apnea; Carnitine; Diseases in Twins; Fatty Acids; Female; Humans; Infant, Newborn; Lipid Metabolism, | 1995 |
Carnitine effects on coenzyme A profiles in rat liver with hypoglycin inhibition of multiple dehydrogenases.
Topics: Acyl-CoA Dehydrogenases; Animals; Carnitine; Coenzyme A; Cyclopropanes; Enzyme Inhibitors; Hypoglyci | 1997 |
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Breath Tests; Carbon Isotopes; Carnitine; Carnitine | 1997 |
The metabolic crisis: a diagnostic challenge [editoria; comment].
Topics: Acyl-CoA Dehydrogenase; Carnitine; Child; Deficiency Diseases; Energy Metabolism; Fatty Acid Desatur | 1997 |
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.
Topics: Adult; Amnion; Breast Feeding; Carnitine; Carnitine Acyltransferases; Carnitine O-Palmitoyltransfera | 1997 |
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.
Topics: Amino Acid Sequence; Animals; Base Sequence; Carnitine; Cells, Cultured; Child; Cloning, Molecular; | 1997 |
Postpartum manifestation of a necrotising lipid storage myopathy associated with muscle carnitine deficiency.
Topics: Adult; Biopsy; Carnitine; Female; Humans; Lipid Metabolism, Inborn Errors; Muscular Atrophy; Necrosi | 1998 |
Secondary abnormality of carnitine biosynthesis results from carnitine reabsorptional system defect in juvenile visceral steatosis mice.
Topics: Acetylcarnitine; Animals; Betaine; Biological Transport; Carnitine; Kidney; Lipid Metabolism, Inborn | 1997 |
Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Carnit | 1998 |
Gene-dose effect on carnitine transport activity in embryonic fibroblasts of JVS mice as a model of human carnitine transporter deficiency.
Topics: Animals; Biological Transport; Carnitine; Carrier Proteins; Disease Models, Animal; Embryo, Mammalia | 1998 |
Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.
Topics: Carnitine; Carrier Proteins; Cells, Cultured; Fatty Acids; Female; Fibroblasts; Humans; Infant; Lipi | 1998 |
Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Carnitine O-Palmitoyltransfer | 1998 |
Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects.
Topics: Carbon Isotopes; Carnitine; Cells, Cultured; Fatty Acids; Fibroblasts; Gas Chromatography-Mass Spect | 1999 |
Carnitine-acylcarnitine translocase deficiency is a treatable disease.
Topics: Acetylcarnitine; Carnitine; Carnitine Acyltransferases; Female; Humans; Infant, Newborn; Lipid Metab | 1999 |
Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects.
Topics: Carnitine; Child; Child, Preschool; Fatty Acids; Humans; Infant; Lipid Metabolism, Inborn Errors; Ma | 1999 |
Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro.
Topics: Carnitine; Circadian Rhythm; Female; Humans; Hypoventilation; Infant; Lipid Metabolism, Inborn Error | 1999 |
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Arginine; Cardiomyopathies; Carnitine; Codon, Terminator; Fatal | 1999 |
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Carnitine; Dietary Supplements; Fatty Acids; Humans; Infant, Newbo | 1999 |
Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma.
Topics: Acyl-CoA Dehydrogenases; Biomarkers; Calibration; Carnitine; Carnitine O-Palmitoyltransferase; Human | 1999 |
MCAD deficiency. Acylcarnitines (AC) by tandem mass spectrometry (MS-MS) are useful to monitor dietary treatment.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Fatty Acid Desaturases; Female; Humans; Infant; Lipid Metabolism, | 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 Ac | 2000 |
Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias.
Topics: Adult; Carboxy-Lyases; Carnitine; Case-Control Studies; Gas Chromatography-Mass Spectrometry; Humans | 2000 |
Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots.
Topics: Carnitine; Fatty Acid Desaturases; Humans; Infant; Lipid Metabolism, Inborn Errors; Male; Monitoring | 2000 |
Multiple acyl-CoA-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Amino Acid Metabolism, Inborn Errors; Carnitine; Di | 2001 |
Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Acyl-CoA Dehydrogenases; Adult; Carnitine; Case-Control Studies; | 2001 |
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Fatty Acids; Female; Humans; Lipid Metabolis | 2001 |
Lipid-storage myopathies.
Topics: Adolescent; Adult; Carnitine; Child; Fatty Acids; Female; Humans; Lipid Metabolism, Inborn Errors; M | 1978 |
A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase.
Topics: Acute Kidney Injury; Acyltransferases; Adolescent; Adult; Carnitine; Cholesterol; Creatine Kinase; F | 1975 |
Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidney.
Topics: Adult; Carnitine; Female; Humans; Inclusion Bodies; Kidney; Lipid Metabolism; Lipid Metabolism, Inbo | 1976 |
Fatal cases of lipid storage myopathy with carnitine deficiency.
Topics: Adult; Carnitine; Child; Female; Humans; Inclusion Bodies; Lipid Metabolism, Inborn Errors; Male; Mu | 1977 |
Fatal lipid storage myopathy in an infant: case report and autopsy findings.
Topics: Biopsy; Carnitine; Humans; Infant; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Male; Muscle H | 1979 |
[Myopathies related to lipid metabolism disorders (review of the literature)].
Topics: Adult; Carnitine; Carnitine O-Palmitoyltransferase; Electromyography; Female; Histocytochemistry; Hu | 1979 |
[Clinical, morphological and biochemical studies on muscle carnitine deficiency (author's transl)].
Topics: Biopsy; Carnitine; Carnitine O-Palmitoyltransferase; Female; Humans; Infant; Lipid Metabolism, Inbor | 1979 |
Autosomal recessive lipid storage myopathy (probable carnitine deficiency).
Topics: Adolescent; Adult; Carnitine; Female; Genes, Recessive; Humans; Lipid Metabolism, Inborn Errors; Mic | 1979 |
A biochemical approach to lipid storage myopathies.
Topics: Acid Phosphatase; Alkaline Phosphatase; Carnitine; Fatty Acids, Nonesterified; Hexosaminidases; Huma | 1977 |
The syndrome of carnitine deficiency.
Topics: Adult; Carnitine; Child; Fatty Acids; Female; Humans; Lipid Metabolism, Inborn Errors; Liver; Male; | 1976 |
Proto-oncogene c-jun and c-fos messenger RNAs increase in the liver of carnitine-deficient juvenile visceral steatosis (jvs) mice.
Topics: Aging; alpha-Fetoproteins; Animals; Animals, Newborn; Carnitine; Fructose-Bisphosphate Aldolase; Gen | 1992 |
Urinary medium-chain acylcarnitines in medium-chain acyl-CoA dehydrogenase deficiency, medium-chain triglyceride feeding and valproic acid therapy: sensitivity and specificity of the radioisotopic exchange/high performance liquid chromatography method.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Adolescent; Carnitine; Child; Child, Preschool; Chr | 1992 |
[Myopathy with carnitine deficiency and lactic acidosis. A contribution to differential diagnosis of carnitine deficiency myopathies and mitochondrial myopathies].
Topics: Acidosis, Lactic; Biopsy; Carnitine; Child; Diagnosis, Differential; Humans; Lipid Metabolism, Inbor | 1992 |
Analysis of acylcarnitines as their N-demethylated ester derivatives by gas chromatography-chemical ionization mass spectrometry.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Acylation; Carnitine; Humans; Lipid Metabolism, Inb | 1991 |
Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult.
Topics: Acidosis; Adult; Carnitine; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Female; Glu | 1990 |
Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation.
Topics: 3-Hydroxybutyric Acid; Acyl-CoA Dehydrogenases; Carnitine; Chromatography, Gas; Fasting; Fatty Acids | 1989 |
Comparison of urinary acylglycines and acylcarnitines as diagnostic markers of medium-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Acylation; Biomarkers; Carnitine; Glycine; Humans; | 1989 |
Metabolic response to exercise and muscle disease.
Topics: Adenosine Triphosphatases; Calcium; Carnitine; Carnitine O-Palmitoyltransferase; Female; Glycogen; G | 1986 |
[Carnitine deficiency].
Topics: Carnitine; Carnitine Acyltransferases; Carnitine O-Palmitoyltransferase; Child; Coenzyme A; Cytochro | 1986 |
Mitochondrial myopathies: defects in beta-oxidation.
Topics: Adenosine Triphosphatases; Animals; Biological Transport; Carnitine; Fatty Acid Desaturases; Humans; | 1985 |
[Lipid myopathy: a heterogenic familial case].
Topics: Adult; Carnitine; Female; Humans; Lipid Metabolism, Inborn Errors; Muscles; Muscular Diseases; NADH, | 1987 |
Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids.
Topics: Acyl-CoA Dehydrogenases; Caprylates; Carnitine; Cells, Cultured; Decanoic Acids; Dicarboxylic Acids; | 1985 |
Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Caprylates; Carnitine; Fatty Acids; Gas Chromatogra | 1985 |
Muscle carnitine deficiency in old age. Case report and therapeutic results.
Topics: Aged; Biopsy; Carnitine; Electromyography; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors | 1985 |
Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome.
Topics: Acyltransferases; Adult; Carbon Isotopes; Carnitine; Coenzyme A Ligases; Fatty Acids; Female; Humans | 1973 |
Carnitine deficiency myopathy.
Topics: Adolescent; Carnitine; Coenzyme A; Female; Humans; Lipid Metabolism, Inborn Errors; Mitochondria, Mu | 1973 |
Muscle carnitine palmityltransferase deficiency and myoglobinuria.
Topics: Acetyltransferases; Acyltransferases; Adult; Carbon Radioisotopes; Carnitine; Coenzyme A Ligases; Hu | 1973 |
Carnitine and the twins.
Topics: Adolescent; Carnitine; Diseases in Twins; Fatty Acids; Female; Humans; Ligases; Lipid Metabolism, In | 1970 |