carnitine has been researched along with Metabolic Diseases in 62 studies
Metabolic Diseases: Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)
Excerpt | Relevance | Reference |
---|---|---|
" Antiquitin deficiency is the most common form of pyridoxine-dependent epilepsy." | 5.05 | Inherited Disorders of Lysine Metabolism: A Review. ( Bouchereau, J; Schiff, M, 2020) |
"When patients suffer from hepato-encephalopathy, (cardio)myopathy, dystrophy, hypoglycaemia, some metabolic diseases and several other disease states, carnitine deficiency should be considered." | 4.78 | [Pathogenesis and pathophysiology of carnitine deficiency, a predictable risk]. ( Przyrembel, H; Rodrigues Pereira, R; Scholte, HR, 1990) |
"Genome-wide association studies have identified a signal at the SLC22A1 locus for serum acylcarnitines, intermediate metabolites of mitochondrial oxidation whose plasma levels associate with metabolic diseases." | 3.85 | Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport. ( Abbey, D; Bennett, MJ; Brown, C; Hand, NJ; Kim, HI; Lee, JJ; Lu, W; Rabinowitz, JD; Rader, DJ; Raffler, J; Saleheen, D, 2017) |
"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) |
"Free and total carnitine quantification is important as a complementary test for the diagnosis of unusual metabolic diseases, including fatty acid degradation disorders." | 3.71 | Plasma free and total carnitine measured in children by tandem mass spectrometry. ( Osorio, JH; Pourfarzam, M, 2002) |
" Four dynamic syndromes are currently recognized: 1) defective carbohydrate utilization, due to block of glycogenolysis or glycolysis; 2) defective lipid utilization, due to deficiency of the mitochondrial translocation of long-chain fatty acids (carnitine palmityltransferase deficiency); 3) lactic acidosis, due to defects of mitochondrial electron transport enzymes and possibly other unidentified defects; and 4) abnormal adenine nucleotide metabolism, exemplified by adenylate deaminase deficiency." | 3.67 | Clinical disorders of muscle energy metabolism. ( Layzer, RB; Lewis, SF, 1984) |
"Methylmalonic aciduria (MMA) is a common one of the congenital disorders of organic acids metabolism." | 2.73 | [Clinical studies on fifty-seven Chinese patients with combined methylmalonic aciduria and homocysteinemia]. ( Dong, JH; Jiang, YW; Liu, P; Qin, J; Song, JQ; Wang, LF; Wu, XR; Yan, R; Yang, YL; Zhang, Y; Zhang, YH, 2007) |
"Carnitine is a hydrophilic quaternary amine that plays a number of essential roles in metabolism with the main function being the transport of long-chain fatty acids from the cytosol to the mitochondrial matrix for β-oxidation." | 2.52 | Disorders of carnitine biosynthesis and transport. ( El-Hattab, AW; Scaglia, F, 2015) |
"Carnitine is a quaternary ammonium compound biosynthesized from phosphatidylcholine and the amino acids lysine and methionine (Fig." | 2.50 | Gut microorganisms and cardiovascular disease: carnitine is the answer. ( Ginter, E; Simko, V, 2014) |
"Carnitine is a water-soluble amino acid derivative required for β-oxidation of long-chain fatty acids." | 1.48 | Hypocarnitinemia Observed in an Infant Treated with Short-Term Administration of Antibiotic Containing Pivalic Acid. ( Fuchigami, T; Ishige, M; Ishige, N; Nakazaki, K; Ogawa, E; Takahashi, S, 2018) |
" We performed a cross-sectional surveillance study on pediatric patients taking valproate to evaluate the relationship between carnitine levels and demographic data including age, daily dosage of valproate, number of antiepileptic drugs, body mass index, and feeding problems." | 1.32 | Carnitine level in Chinese epileptic patients taking sodium valproate. ( Fok, TF; Fung, EL; Ho, CS; Lam, CW; Tang, NL, 2003) |
" In both group A and group B patients, plasma ammonia levels were correlated with the valproic acid dosage (r = 0." | 1.30 | Carnitine deficiency and hyperammonemia in children receiving valproic acid with and without other anticonvulsant drugs. ( Chiarelli, F; Greco, R; Morgese, G; Verrotti, A, 1999) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 19 (30.65) | 18.7374 |
1990's | 8 (12.90) | 18.2507 |
2000's | 10 (16.13) | 29.6817 |
2010's | 20 (32.26) | 24.3611 |
2020's | 5 (8.06) | 2.80 |
Authors | Studies |
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Liu, H | 1 |
Zhu, J | 1 |
Li, Q | 1 |
Wang, D | 1 |
Wan, K | 1 |
Yuan, Z | 1 |
Zhang, J | 1 |
Zou, L | 1 |
He, X | 1 |
Miao, J | 1 |
Yu, Y | 1 |
Liu, B | 1 |
Liu, X | 1 |
Zhang, X | 1 |
Zhang, W | 1 |
Tian, H | 1 |
Shui, G | 1 |
Wang, W | 1 |
Song, M | 1 |
Wang, J | 1 |
Bower, A | 1 |
Imbard, A | 1 |
Benoist, JF | 1 |
Pichard, S | 1 |
Rigal, O | 1 |
Baud, O | 1 |
Schiff, M | 3 |
van der Kolk, JH | 1 |
Thomas, S | 1 |
Mach, N | 1 |
Ramseyer, A | 1 |
Burger, D | 1 |
Gerber, V | 1 |
Nuoffer, JM | 1 |
Bouchereau, J | 1 |
Guffon, N | 1 |
Mochel, F | 1 |
De Lonlay, P | 1 |
Douillard, C | 1 |
Vianey-Saban, C | 1 |
Kim, HI | 1 |
Raffler, J | 1 |
Lu, W | 1 |
Lee, JJ | 1 |
Abbey, D | 1 |
Saleheen, D | 1 |
Rabinowitz, JD | 1 |
Bennett, MJ | 2 |
Hand, NJ | 1 |
Brown, C | 1 |
Rader, DJ | 1 |
Makrecka-Kuka, M | 1 |
Sevostjanovs, E | 1 |
Vilks, K | 1 |
Volska, K | 1 |
Antone, U | 1 |
Kuka, J | 1 |
Makarova, E | 1 |
Pugovics, O | 1 |
Dambrova, M | 1 |
Liepinsh, E | 1 |
Nakazaki, K | 1 |
Ogawa, E | 1 |
Ishige, M | 1 |
Ishige, N | 1 |
Fuchigami, T | 1 |
Takahashi, S | 1 |
Tarasenko, TN | 1 |
Cusmano-Ozog, K | 1 |
McGuire, PJ | 1 |
Pomar, CA | 1 |
Kuda, O | 1 |
Kopecky, J | 1 |
Rombaldova, M | 1 |
Castro, H | 1 |
Picó, C | 1 |
Sánchez, J | 1 |
Palou, A | 1 |
Muilwijk, M | 1 |
Vaz, FM | 1 |
Celis-Morales, C | 1 |
Peters, RJG | 1 |
van Valkengoed, IGM | 1 |
Han, L | 2 |
Han, F | 1 |
Ye, J | 1 |
Qiu, W | 1 |
Zhang, H | 1 |
Gao, X | 1 |
Wang, Y | 1 |
Ji, W | 1 |
Gu, X | 2 |
Ginter, E | 1 |
Simko, V | 1 |
McCoin, CS | 1 |
Knotts, TA | 1 |
Adams, SH | 1 |
El-Hattab, AW | 1 |
Scaglia, F | 1 |
Liu, J | 1 |
Chen, XX | 1 |
Li, XW | 1 |
Fu, W | 1 |
Zhang, WQ | 1 |
Schobersberger, W | 1 |
Dünnwald, T | 1 |
Gmeiner, G | 1 |
Blank, C | 1 |
Landau, YE | 1 |
Waisbren, SE | 1 |
Chan, LM | 1 |
Levy, HL | 1 |
Snyder, FF | 1 |
Carter, RJ | 1 |
Fung, E | 1 |
Hodges, SD | 1 |
Mantik, KB | 1 |
Arduini, A | 1 |
Bonomini, M | 1 |
Savica, V | 1 |
Amato, A | 1 |
Zammit, V | 1 |
Walter, JH | 1 |
Patterson, A | 1 |
Till, J | 1 |
Besley, GT | 1 |
Fleming, G | 1 |
Henderson, MJ | 1 |
Liu, A | 1 |
Johnson, DW | 1 |
Pasquali, M | 2 |
Pollard, LM | 1 |
Williams, NR | 1 |
Espinoza, L | 1 |
Wood, TC | 1 |
Spector, EB | 1 |
Schroer, RJ | 1 |
Holden, KR | 1 |
De Jesús, VR | 1 |
Chace, DH | 1 |
Lim, TH | 1 |
Mei, JV | 1 |
Hannon, WH | 2 |
McHugh, D | 1 |
Cameron, CA | 1 |
Abdenur, JE | 1 |
Abdulrahman, M | 1 |
Adair, O | 1 |
Al Nuaimi, SA | 1 |
Åhlman, H | 1 |
Allen, JJ | 1 |
Antonozzi, I | 1 |
Archer, S | 1 |
Au, S | 1 |
Auray-Blais, C | 1 |
Baker, M | 1 |
Bamforth, F | 1 |
Beckmann, K | 1 |
Pino, GB | 1 |
Berberich, SL | 1 |
Binard, R | 1 |
Boemer, F | 1 |
Bonham, J | 1 |
Breen, NN | 1 |
Bryant, SC | 2 |
Caggana, M | 2 |
Caldwell, SG | 2 |
Camilot, M | 2 |
Campbell, C | 2 |
Carducci, C | 2 |
Cariappa, R | 1 |
Carlisle, C | 1 |
Caruso, U | 1 |
Cassanello, M | 1 |
Castilla, AM | 1 |
Ramos, DE | 1 |
Chakraborty, P | 1 |
Chandrasekar, R | 1 |
Ramos, AC | 1 |
Cheillan, D | 1 |
Chien, YH | 1 |
Childs, TA | 1 |
Chrastina, P | 1 |
Sica, YC | 1 |
de Juan, JA | 1 |
Colandre, ME | 1 |
Espinoza, VC | 1 |
Corso, G | 1 |
Currier, R | 1 |
Cyr, D | 1 |
Czuczy, N | 1 |
D'Apolito, O | 1 |
Davis, T | 1 |
de Sain-Van der Velden, MG | 1 |
Delgado Pecellin, C | 1 |
Di Gangi, IM | 1 |
Di Stefano, CM | 1 |
Dotsikas, Y | 1 |
Downing, M | 1 |
Downs, SM | 1 |
Dy, B | 1 |
Dymerski, M | 1 |
Rueda, I | 1 |
Elvers, B | 1 |
Eaton, R | 1 |
Eckerd, BM | 1 |
El Mougy, F | 1 |
Eroh, S | 1 |
Espada, M | 1 |
Evans, C | 1 |
Fawbush, S | 1 |
Fijolek, KF | 1 |
Fisher, L | 1 |
Franzson, L | 1 |
Frazier, DM | 1 |
Garcia, LR | 1 |
Bermejo, MS | 1 |
Gavrilov, D | 1 |
Gerace, R | 1 |
Giordano, G | 1 |
Irazabal, YG | 1 |
Greed, LC | 1 |
Grier, R | 1 |
Grycki, E | 1 |
Gulamali-Majid, F | 1 |
Hagar, AF | 1 |
Haslip, C | 1 |
Hassan, FA | 1 |
He, M | 1 |
Hietala, A | 1 |
Himstedt, L | 1 |
Hoffman, GL | 1 |
Hoffman, W | 1 |
Hoggatt, P | 1 |
Hopkins, PV | 1 |
Hougaard, DM | 1 |
Hughes, K | 1 |
Hunt, PR | 1 |
Hwu, WL | 1 |
Hynes, J | 1 |
Ibarra-González, I | 1 |
Ingham, CA | 1 |
Ivanova, M | 1 |
Jacox, WB | 1 |
John, C | 1 |
Johnson, JP | 1 |
Jónsson, JJ | 1 |
Karg, E | 1 |
Kasper, D | 1 |
Klopper, B | 1 |
Katakouzinos, D | 1 |
Khneisser, I | 1 |
Knoll, D | 1 |
Kobayashi, H | 1 |
Koneski, R | 1 |
Kozich, V | 1 |
Kouapei, R | 1 |
Kohlmueller, D | 1 |
Kremensky, I | 1 |
la Marca, G | 1 |
Lavochkin, M | 1 |
Lee, SY | 1 |
Lehotay, DC | 1 |
Lemes, A | 1 |
Lepage, J | 1 |
Lesko, B | 1 |
Lewis, B | 1 |
Lim, C | 1 |
Linard, S | 1 |
Lindner, M | 1 |
Lloyd-Puryear, MA | 1 |
Lorey, F | 1 |
Loukas, YL | 1 |
Luedtke, J | 1 |
Maffitt, N | 1 |
Magee, JF | 1 |
Manning, A | 1 |
Manos, S | 1 |
Marie, S | 1 |
Hadachi, SM | 1 |
Marquardt, G | 1 |
Martin, SJ | 1 |
Matern, D | 1 |
Mayfield Gibson, SK | 1 |
Mayne, P | 1 |
McCallister, TD | 1 |
McCann, M | 1 |
McClure, J | 1 |
McGill, JJ | 1 |
McKeever, CD | 1 |
McNeilly, B | 1 |
Morrissey, MA | 1 |
Moutsatsou, P | 1 |
Mulcahy, EA | 1 |
Nikoloudis, D | 1 |
Norgaard-Pedersen, B | 1 |
Oglesbee, D | 1 |
Oltarzewski, M | 1 |
Ombrone, D | 1 |
Ojodu, J | 1 |
Papakonstantinou, V | 1 |
Reoyo, SP | 1 |
Park, HD | 1 |
Pasquini, E | 1 |
Patel, P | 1 |
Pass, KA | 1 |
Peterson, C | 1 |
Pettersen, RD | 1 |
Pitt, JJ | 1 |
Poh, S | 1 |
Pollak, A | 1 |
Porter, C | 1 |
Poston, PA | 1 |
Price, RW | 1 |
Queijo, C | 1 |
Quesada, J | 1 |
Randell, E | 1 |
Ranieri, E | 1 |
Raymond, K | 1 |
Reddic, JE | 1 |
Reuben, A | 1 |
Ricciardi, C | 1 |
Rinaldo, P | 1 |
Rivera, JD | 1 |
Roberts, A | 1 |
Rocha, H | 1 |
Roche, G | 1 |
Greenberg, CR | 1 |
Mellado, JM | 1 |
Juan-Fita, MJ | 1 |
Ruiz, C | 1 |
Ruoppolo, M | 1 |
Rutledge, SL | 1 |
Ryu, E | 1 |
Saban, C | 1 |
Sahai, I | 1 |
García-Blanco, MI | 1 |
Santiago-Borrero, P | 1 |
Schenone, A | 1 |
Schoos, R | 1 |
Schweitzer, B | 1 |
Scott, P | 1 |
Seashore, MR | 1 |
Seeterlin, MA | 1 |
Sesser, DE | 1 |
Sevier, DW | 1 |
Shone, SM | 1 |
Sinclair, G | 1 |
Skrinska, VA | 1 |
Stanley, EL | 1 |
Strovel, ET | 1 |
Jones, AL | 1 |
Sunny, S | 1 |
Takats, Z | 1 |
Tanyalcin, T | 1 |
Teofoli, F | 1 |
Thompson, JR | 1 |
Tomashitis, K | 1 |
Domingos, MT | 1 |
Torres, J | 1 |
Torres, R | 1 |
Tortorelli, S | 1 |
Turi, S | 1 |
Turner, K | 1 |
Tzanakos, N | 1 |
Valiente, AG | 1 |
Vallance, H | 1 |
Vela-Amieva, M | 1 |
Vilarinho, L | 1 |
von Döbeln, U | 1 |
Vincent, MF | 1 |
Vorster, BC | 1 |
Watson, MS | 1 |
Webster, D | 1 |
Weiss, S | 1 |
Wilcken, B | 1 |
Wiley, V | 1 |
Williams, SK | 1 |
Willis, SA | 1 |
Woontner, M | 1 |
Wright, K | 1 |
Yahyaoui, R | 1 |
Yamaguchi, S | 1 |
Yssel, M | 1 |
Zakowicz, WM | 1 |
Pryce, JW | 1 |
Weber, MA | 1 |
Heales, S | 1 |
Malone, M | 1 |
Sebire, NJ | 1 |
Ko, JM | 1 |
Shin, CH | 1 |
Yang, SW | 1 |
Seong, MW | 1 |
Park, SS | 1 |
Song, J | 1 |
Osorio, JH | 1 |
Pourfarzam, M | 2 |
Fung, EL | 1 |
Tang, NL | 1 |
Ho, CS | 1 |
Lam, CW | 1 |
Fok, TF | 1 |
Aoki, J | 1 |
Yasuno, T | 1 |
Sugie, H | 1 |
Kido, H | 1 |
Nishino, I | 1 |
Shigematsu, Y | 2 |
Kanazawa, M | 1 |
Takayanagi, M | 1 |
Kumami, M | 1 |
Endo, K | 1 |
Kaneoka, H | 1 |
Yamaguchi, M | 1 |
Fukuda, T | 1 |
Yamamoto, T | 1 |
Zhang, Y | 1 |
Song, JQ | 1 |
Liu, P | 1 |
Yan, R | 1 |
Dong, JH | 1 |
Yang, YL | 1 |
Wang, LF | 1 |
Jiang, YW | 1 |
Zhang, YH | 1 |
Qin, J | 1 |
Wu, XR | 1 |
Schmidt-Sommerfeld, E | 1 |
Penn, D | 1 |
Wolf, H | 1 |
Kim, CS | 1 |
Dorgan, DR | 1 |
Roe, CR | 2 |
Layzer, RB | 1 |
Lewis, SF | 1 |
Millington, DS | 1 |
Maltby, DA | 1 |
Kamieniecka, Z | 1 |
Schmalbruch, H | 1 |
Carroll, JE | 1 |
Brooke, MH | 1 |
DeVivo, DC | 1 |
Shumate, JB | 1 |
Kratz, R | 1 |
Ringel, SP | 1 |
Hagberg, JM | 1 |
Angelini, C | 3 |
Philippart, M | 1 |
Borrone, C | 1 |
Bresolin, N | 1 |
Cantini, M | 1 |
Lucke, S | 1 |
Nakai, A | 1 |
Liu, YY | 1 |
Kikawa, Y | 1 |
Sudo, M | 1 |
Fujioka, M | 1 |
Sekas, G | 1 |
Paul, HS | 1 |
Sewell, AC | 1 |
Böhles, HJ | 1 |
Jones, MG | 1 |
Chalmers, RA | 1 |
Verrotti, A | 1 |
Greco, R | 1 |
Morgese, G | 1 |
Chiarelli, F | 1 |
Braida, L | 1 |
Crovella, S | 1 |
Boniotto, M | 1 |
Luchesi, A | 1 |
de Vonderweid, U | 1 |
Casetta, B | 1 |
Amoroso, A | 1 |
Tyni, T | 1 |
Turnbull, DM | 2 |
Bratton, SL | 1 |
Garden, AL | 1 |
Bohan, TP | 1 |
French, JW | 1 |
Clarke, WR | 1 |
Salonen, V | 1 |
Nikoskelainen, J | 1 |
Heinonen, OJ | 1 |
Kalimo, H | 1 |
Aula, P | 1 |
Rodrigues Pereira, R | 1 |
Przyrembel, H | 1 |
Scholte, HR | 2 |
DiDonato, S | 1 |
Gellera, C | 1 |
Peluchetti, D | 1 |
Uziel, G | 1 |
Antonelli, A | 1 |
Lus, G | 1 |
Rimoldi, M | 1 |
Cornelio, F | 1 |
Di Donato, S | 1 |
Bartlett, K | 1 |
Eyre, JA | 1 |
Gardner-Medwin, D | 1 |
Johnson, MA | 1 |
Fisher, J | 1 |
Watmough, NJ | 1 |
Pande, SV | 1 |
Ibayashi, H | 1 |
Ideguchi, H | 1 |
Harada, N | 1 |
Ishimoto, S | 1 |
Goto, I | 1 |
Matsuishi, T | 1 |
Yuge, K | 1 |
Aramaki, S | 1 |
Yoshino, M | 1 |
Yoshida, I | 1 |
Yamashita, F | 1 |
Stumpf, DA | 1 |
Parker, WD | 1 |
de Visser, M | 1 |
Schutgens, RB | 1 |
Bolhuis, PA | 1 |
Luyt-Houwen, IE | 1 |
Vaandrager-Verduin, MH | 1 |
Veder, HA | 1 |
Oey, PL | 1 |
Hale, DE | 1 |
Cruse, RP | 1 |
Engel, A | 1 |
Yderstraede, KB | 1 |
Markesbery, WR | 1 |
McQuillen, MP | 1 |
Procopis, PG | 1 |
Harrison, AR | 1 |
Engel, AG | 1 |
10 reviews available for carnitine and Metabolic Diseases
Article | Year |
---|---|
Inherited Disorders of Lysine Metabolism: A Review.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Arginine; Brain; B | 2020 |
Gut microorganisms and cardiovascular disease: carnitine is the answer.
Topics: Cardiovascular Diseases; Carnitine; Gastrointestinal Tract; Humans; Intestinal Mucosa; Intestines; M | 2014 |
Acylcarnitines--old actors auditioning for new roles in metabolic physiology.
Topics: Carnitine; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Metabolic Diseases; Metabolic | 2015 |
Disorders of carnitine biosynthesis and transport.
Topics: Animals; Autism Spectrum Disorder; Biological Transport; Cardiomyopathies; Carnitine; Fatty Acids; H | 2015 |
Story behind meldonium-from pharmacology to performance enhancement: a narrative review.
Topics: Athletes; Athletic Performance; Cardiovascular Diseases; Carnitine; Doping in Sports; Humans; Metabo | 2017 |
Carnitine in metabolic disease: potential for pharmacological intervention.
Topics: Animals; Carnitine; Clinical Trials as Topic; Humans; Kidney Failure, Chronic; Metabolic Diseases; R | 2008 |
Neuromuscular disorders with abnormal muscle mitochondria.
Topics: Animals; Carnitine; Diagnosis, Differential; Female; Humans; Lipid Metabolism; Male; Metabolic Disea | 1980 |
Acylcarnitines in intermediary metabolism.
Topics: Acylation; Cardiomyopathies; Cardiotonic Agents; Carnitine; Humans; Metabolic Diseases | 1995 |
[Pathogenesis and pathophysiology of carnitine deficiency, a predictable risk].
Topics: Adult; Cardiomyopathies; Carnitine; Child; Child, Preschool; Female; Hepatic Encephalopathy; Humans; | 1990 |
Carnitine deficiency, organic acidemias, and Reye's syndrome.
Topics: Acids; Acyl Coenzyme A; Carnitine; Humans; Metabolic Diseases; Reye Syndrome | 1985 |
3 trials available for carnitine and Metabolic Diseases
Article | Year |
---|---|
The Association of Acylcarnitines and Amino Acids With Age in Dutch and South-Asian Surinamese Living in Amsterdam.
Topics: Adolescent; Adult; Age Factors; Aged; Amino Acids; Asian People; Biomarkers; Carnitine; Cohort Studi | 2018 |
[Clinical studies on fifty-seven Chinese patients with combined methylmalonic aciduria and homocysteinemia].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Anemia; Carnitine; Child; Child, Preschool; | 2007 |
Carnitine deficiency in premature infants receiving total parenteral nutrition: effect of L-carnitine supplementation.
Topics: Carnitine; Dietary Fats; Fatty Acids, Nonesterified; Humans; Hydroxybutyrates; Infant, Newborn; Infa | 1983 |
49 other studies available for carnitine and Metabolic Diseases
Article | Year |
---|---|
Untargeted metabolomic analysis of urine samples for diagnosis of inherited metabolic disorders.
Topics: Amino Acids; Biomarkers; Carnitine; Child; Humans; Mass Spectrometry; Metabolic Diseases; Metabolomi | 2021 |
Mesenteric lymph system constitutes the second route in gut-liver axis and transports metabolism-modulating gut microbial metabolites.
Topics: Animals; Carnitine; Gastrointestinal Microbiome; Liver; Mesentery; Metabolic Diseases; Mice | 2022 |
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
Topics: Amino Acids; Carnitine; Female; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intensiv | 2019 |
Serum acylcarnitine profile in endurance horses with and without metabolic dysfunction.
Topics: Animals; Carnitine; Fatty Acids; Female; Horses; Male; Metabolic Diseases; Mitochondria; Oxidation-R | 2020 |
Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Carnitine; Child; Child, Preschool; Female; H | 2021 |
Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport.
Topics: Alleles; Alternative Splicing; Animals; Biological Transport; Carnitine; Cells, Cultured; Cohort Stu | 2017 |
Plasma acylcarnitine concentrations reflect the acylcarnitine profile in cardiac tissues.
Topics: Animals; Blood Glucose; Carnitine; Glucose Tolerance Test; Insulin; Liver; Male; Metabolic Diseases; | 2017 |
Hypocarnitinemia Observed in an Infant Treated with Short-Term Administration of Antibiotic Containing Pivalic Acid.
Topics: Anti-Bacterial Agents; Carbon; Carnitine; Humans; Hypoglycemia; Infant; Male; Metabolic Diseases; Ox | 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 |
Alterations in plasma acylcarnitine and amino acid profiles may indicate poor nutrition during the suckling period due to maternal intake of an unbalanced diet and may predict later metabolic dysfunction.
Topics: Amino Acids; Animals; Animals, Suckling; Carnitine; Diet; Female; Lactation; Lipid Metabolism; Liver | 2019 |
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 |
Metabolomic Research on Newborn Infants With Intrauterine Growth Restriction.
Topics: Amino Acids; Carnitine; Female; Fetal Growth Retardation; Gestational Age; Humans; Infant, Newborn; | 2016 |
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 |
Application of metabolomic principles to disorders of nucleotide metabolism reveals new metabolic perturbations.
Topics: Adenine Phosphoribosyltransferase; Adenosine Deaminase; Amino Acids; Carnitine; Dihydropyrimidine De | 2008 |
Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.
Topics: Amino Acids; Blood Chemical Analysis; Blood Specimen Collection; Carnitine; Cohort Studies; Efficien | 2009 |
Addition of formic acid improves acetonitrile extraction of dicarboxylic acylcarnitines.
Topics: Acetonitriles; Blood Chemical Analysis; Carnitine; Formates; Humans; Metabolic Diseases; Solvents | 2009 |
Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.
Topics: Brain Diseases, Metabolic; Carnitine; Child; Child, Preschool; Developmental Disabilities; Female; H | 2010 |
Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry.
Topics: Amino Acids; Butanols; Carnitine; Humans; Infant, Newborn; Leucine; Metabolic Diseases; Methionine; | 2010 |
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
Topics: Amino Acids; Carnitine; Humans; Infant, Newborn; International Cooperation; Metabolic Diseases; Neon | 2011 |
Tandem mass spectrometry findings at autopsy for detection of metabolic disease in infant deaths: postmortem changes and confounding factors.
Topics: Autopsy; Bile; Carnitine; Humans; Infant; Infant, Newborn; Liver; Metabolic Diseases; Organ Size; Po | 2011 |
Future directions in metabolic disease testing.
Topics: Biological Assay; Carnitine; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Fat | 2011 |
The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Antifungal Agents; Asian Peop | 2012 |
Plasma free and total carnitine measured in children by tandem mass spectrometry.
Topics: Adolescent; Carnitine; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Metab | 2002 |
Carnitine level in Chinese epileptic patients taking sodium valproate.
Topics: Adolescent; Anticonvulsants; Asian People; Carnitine; Child; Epilepsy; Female; Humans; Male; Metabol | 2003 |
A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation.
Topics: Adult; Age of Onset; Amino Acid Substitution; Asian People; Carnitine; Carnitine O-Palmitoyltransfer | 2007 |
L-carnitine: therapeutic strategy for metabolic encephalopathy.
Topics: Animals; Biological Transport, Active; Brain Diseases; Caprylates; Carnitine; Choroid Plexus; In Vit | 1984 |
Clinical disorders of muscle energy metabolism.
Topics: Acidosis; Adenine Nucleotides; Carbohydrate Metabolism; Carnitine; Energy Metabolism; Humans; Lactat | 1984 |
Application of high resolution fast atom bombardment and constant B/E ratio linked scanning to the identification and analysis of acylcarnitines in metabolic disease.
Topics: Acetylcarnitine; Acidosis; Carnitine; Humans; Magnetic Resonance Spectroscopy; Malonates; Mass Spect | 1984 |
Carnitine "deficiency": lack of response to carnitine therapy.
Topics: Adolescent; Carnitine; Fasting; Fatty Acids, Nonesterified; Female; Humans; Metabolic Diseases; Musc | 1980 |
Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.
Topics: Bone Marrow; Carnitine; Child, Preschool; Fatty Acids; Female; Fibroblasts; Humans; Intestine, Small | 1980 |
Free carnitine and short-chain acylcarnitines in cerebrospinal fluid of patients with disorders of propionate metabolism determined by fast atom bombardment and tandem mass spectrometry.
Topics: Adolescent; Carnitine; Female; Humans; Infant; Mass Spectrometry; Metabolic Diseases; Propionates; S | 1994 |
Hyperammonemia and carnitine deficiency in a patient receiving sulfadiazine and pyrimethamine.
Topics: Adult; Ammonia; Carnitine; Drug Therapy, Combination; Humans; Male; Metabolic Diseases; Pyrimethamin | 1993 |
Analysis of acylcarnitines by gas chromatography-electron impact mass spectrometry.
Topics: Acyl-CoA Dehydrogenase; Acylation; Carnitine; Fatty Acid Desaturases; Gas Chromatography-Mass Spectr | 1995 |
Carnitine deficiency and hyperammonemia in children receiving valproic acid with and without other anticonvulsant drugs.
Topics: Adolescent; Adult; Ammonia; Anticonvulsants; Carnitine; Child; Child, Preschool; Epilepsy; Female; H | 1999 |
A rapid and quantitative mass spectrometry method for determining the concentration of acylcarnitines and aminoacids in amniotic fluid.
Topics: Amino Acids; Amniotic Fluid; Carnitine; Female; Fetal Diseases; Humans; Mass Spectrometry; Metabolic | 2001 |
Analysis of mitochondrial fatty acid oxidation intermediates by tandem mass spectrometry from intact mitochondria prepared from homogenates of cultured fibroblasts, skeletal muscle cells, and fresh muscle.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetylcarnitine; Acyl-CoA Dehydrogenase; Carnitine; Carnitine O-Pa | 2002 |
A child with valproic acid-associated carnitine deficiency and carnitine-responsive cardiac dysfunction.
Topics: Carnitine; Child; Developmental Disabilities; Heart Diseases; Humans; Male; Metabolic Diseases; Myoc | 1992 |
[Carnitine deficiency and severe nausea-induced thiamine deficiency causing a metabolic crisis].
Topics: Adult; Carnitine; Female; Humans; Hyperemesis Gravidarum; Lipid Metabolism; Metabolic Diseases; Naus | 1992 |
[Alterations of mitochondria in metabolic diseases. Carnitine deficiency, carnitine palmitoyltransferase deficiency and beta oxidation].
Topics: Acyltransferases; Carnitine; Carnitine O-Palmitoyltransferase; Fatty Acids; Humans; Metabolic Diseas | 1989 |
Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.
Topics: Acyl-CoA Dehydrogenases; Carnitine; Child; Female; Humans; Metabolic Diseases; Muscular Diseases; Ri | 1989 |
Myopathies due to enzyme deficiencies.
Topics: Adult; Carnitine; Carnitine O-Palmitoyltransferase; Enzymes; Female; Glucan 1,4-alpha-Glucosidase; G | 1985 |
Lipid storage myopathy due to glutaric aciduria type II: treatment of a potentially fatal myopathy.
Topics: Carnitine; Female; Glutarates; Glutaryl-CoA Dehydrogenase; Glycine; Humans; Infant; Lipid Metabolism | 1988 |
[Carnitine and intermediary metabolism].
Topics: Carnitine; Humans; Metabolic Diseases | 1988 |
Systemic triglyceride storage disease with normal carnitine: a putative defect in long-chain fatty acid metabolism.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Fatty Acids; Fibroblasts; Humans; Leukocytes; Liver; Ma | 1988 |
Lipid storage myopathy associated with recurrent Reye syndrome-like attacks, but with a normal carnitine level.
Topics: Carnitine; Child; Female; Humans; Lipid Metabolism; Metabolic Diseases; Muscles; Reye Syndrome | 1988 |
Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset.
Topics: Adolescent; Carnitine; Child; Fatty Acids; Female; Fibroblasts; Glutarates; Humans; Infant; Lipid Me | 1986 |
Familial systemic carnitine deficiency.
Topics: Carnitine; Child, Preschool; Female; Humans; Metabolic Diseases | 1985 |
[Carnitine. Deficiency syndromes and their treatment].
Topics: Carnitine; Humans; Lipid Metabolism; Metabolic Diseases; Syndrome | 1985 |
Muscle carnitine deficiency. Association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytes.
Topics: Atrophy; Biological Transport; Carnitine; Electromyography; Female; Humans; Leukocytes; Lipid Metabo | 1974 |