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carnitine and Metabolic Diseases

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)

Research Excerpts

ExcerptRelevanceReference
" Antiquitin deficiency is the most common form of pyridoxine-dependent epilepsy."5.05Inherited 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."3.85Fine 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."3.81Spectrum 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."3.71Plasma 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."3.67Clinical 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."2.52Disorders 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."2.50Gut 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."1.48Hypocarnitinemia 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."1.32Carnitine 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."1.30Carnitine deficiency and hyperammonemia in children receiving valproic acid with and without other anticonvulsant drugs. ( Chiarelli, F; Greco, R; Morgese, G; Verrotti, A, 1999)

Research

Studies (62)

TimeframeStudies, this research(%)All Research%
pre-199019 (30.65)18.7374
1990's8 (12.90)18.2507
2000's10 (16.13)29.6817
2010's20 (32.26)24.3611
2020's5 (8.06)2.80

Authors

AuthorsStudies
Liu, H1
Zhu, J1
Li, Q1
Wang, D1
Wan, K1
Yuan, Z1
Zhang, J1
Zou, L1
He, X1
Miao, J1
Yu, Y1
Liu, B1
Liu, X1
Zhang, X1
Zhang, W1
Tian, H1
Shui, G1
Wang, W1
Song, M1
Wang, J1
Bower, A1
Imbard, A1
Benoist, JF1
Pichard, S1
Rigal, O1
Baud, O1
Schiff, M3
van der Kolk, JH1
Thomas, S1
Mach, N1
Ramseyer, A1
Burger, D1
Gerber, V1
Nuoffer, JM1
Bouchereau, J1
Guffon, N1
Mochel, F1
De Lonlay, P1
Douillard, C1
Vianey-Saban, C1
Kim, HI1
Raffler, J1
Lu, W1
Lee, JJ1
Abbey, D1
Saleheen, D1
Rabinowitz, JD1
Bennett, MJ2
Hand, NJ1
Brown, C1
Rader, DJ1
Makrecka-Kuka, M1
Sevostjanovs, E1
Vilks, K1
Volska, K1
Antone, U1
Kuka, J1
Makarova, E1
Pugovics, O1
Dambrova, M1
Liepinsh, E1
Nakazaki, K1
Ogawa, E1
Ishige, M1
Ishige, N1
Fuchigami, T1
Takahashi, S1
Tarasenko, TN1
Cusmano-Ozog, K1
McGuire, PJ1
Pomar, CA1
Kuda, O1
Kopecky, J1
Rombaldova, M1
Castro, H1
Picó, C1
Sánchez, J1
Palou, A1
Muilwijk, M1
Vaz, FM1
Celis-Morales, C1
Peters, RJG1
van Valkengoed, IGM1
Han, L2
Han, F1
Ye, J1
Qiu, W1
Zhang, H1
Gao, X1
Wang, Y1
Ji, W1
Gu, X2
Ginter, E1
Simko, V1
McCoin, CS1
Knotts, TA1
Adams, SH1
El-Hattab, AW1
Scaglia, F1
Liu, J1
Chen, XX1
Li, XW1
Fu, W1
Zhang, WQ1
Schobersberger, W1
Dünnwald, T1
Gmeiner, G1
Blank, C1
Landau, YE1
Waisbren, SE1
Chan, LM1
Levy, HL1
Snyder, FF1
Carter, RJ1
Fung, E1
Hodges, SD1
Mantik, KB1
Arduini, A1
Bonomini, M1
Savica, V1
Amato, A1
Zammit, V1
Walter, JH1
Patterson, A1
Till, J1
Besley, GT1
Fleming, G1
Henderson, MJ1
Liu, A1
Johnson, DW1
Pasquali, M2
Pollard, LM1
Williams, NR1
Espinoza, L1
Wood, TC1
Spector, EB1
Schroer, RJ1
Holden, KR1
De Jesús, VR1
Chace, DH1
Lim, TH1
Mei, JV1
Hannon, WH2
McHugh, D1
Cameron, CA1
Abdenur, JE1
Abdulrahman, M1
Adair, O1
Al Nuaimi, SA1
Åhlman, H1
Allen, JJ1
Antonozzi, I1
Archer, S1
Au, S1
Auray-Blais, C1
Baker, M1
Bamforth, F1
Beckmann, K1
Pino, GB1
Berberich, SL1
Binard, R1
Boemer, F1
Bonham, J1
Breen, NN1
Bryant, SC2
Caggana, M2
Caldwell, SG2
Camilot, M2
Campbell, C2
Carducci, C2
Cariappa, R1
Carlisle, C1
Caruso, U1
Cassanello, M1
Castilla, AM1
Ramos, DE1
Chakraborty, P1
Chandrasekar, R1
Ramos, AC1
Cheillan, D1
Chien, YH1
Childs, TA1
Chrastina, P1
Sica, YC1
de Juan, JA1
Colandre, ME1
Espinoza, VC1
Corso, G1
Currier, R1
Cyr, D1
Czuczy, N1
D'Apolito, O1
Davis, T1
de Sain-Van der Velden, MG1
Delgado Pecellin, C1
Di Gangi, IM1
Di Stefano, CM1
Dotsikas, Y1
Downing, M1
Downs, SM1
Dy, B1
Dymerski, M1
Rueda, I1
Elvers, B1
Eaton, R1
Eckerd, BM1
El Mougy, F1
Eroh, S1
Espada, M1
Evans, C1
Fawbush, S1
Fijolek, KF1
Fisher, L1
Franzson, L1
Frazier, DM1
Garcia, LR1
Bermejo, MS1
Gavrilov, D1
Gerace, R1
Giordano, G1
Irazabal, YG1
Greed, LC1
Grier, R1
Grycki, E1
Gulamali-Majid, F1
Hagar, AF1
Haslip, C1
Hassan, FA1
He, M1
Hietala, A1
Himstedt, L1
Hoffman, GL1
Hoffman, W1
Hoggatt, P1
Hopkins, PV1
Hougaard, DM1
Hughes, K1
Hunt, PR1
Hwu, WL1
Hynes, J1
Ibarra-González, I1
Ingham, CA1
Ivanova, M1
Jacox, WB1
John, C1
Johnson, JP1
Jónsson, JJ1
Karg, E1
Kasper, D1
Klopper, B1
Katakouzinos, D1
Khneisser, I1
Knoll, D1
Kobayashi, H1
Koneski, R1
Kozich, V1
Kouapei, R1
Kohlmueller, D1
Kremensky, I1
la Marca, G1
Lavochkin, M1
Lee, SY1
Lehotay, DC1
Lemes, A1
Lepage, J1
Lesko, B1
Lewis, B1
Lim, C1
Linard, S1
Lindner, M1
Lloyd-Puryear, MA1
Lorey, F1
Loukas, YL1
Luedtke, J1
Maffitt, N1
Magee, JF1
Manning, A1
Manos, S1
Marie, S1
Hadachi, SM1
Marquardt, G1
Martin, SJ1
Matern, D1
Mayfield Gibson, SK1
Mayne, P1
McCallister, TD1
McCann, M1
McClure, J1
McGill, JJ1
McKeever, CD1
McNeilly, B1
Morrissey, MA1
Moutsatsou, P1
Mulcahy, EA1
Nikoloudis, D1
Norgaard-Pedersen, B1
Oglesbee, D1
Oltarzewski, M1
Ombrone, D1
Ojodu, J1
Papakonstantinou, V1
Reoyo, SP1
Park, HD1
Pasquini, E1
Patel, P1
Pass, KA1
Peterson, C1
Pettersen, RD1
Pitt, JJ1
Poh, S1
Pollak, A1
Porter, C1
Poston, PA1
Price, RW1
Queijo, C1
Quesada, J1
Randell, E1
Ranieri, E1
Raymond, K1
Reddic, JE1
Reuben, A1
Ricciardi, C1
Rinaldo, P1
Rivera, JD1
Roberts, A1
Rocha, H1
Roche, G1
Greenberg, CR1
Mellado, JM1
Juan-Fita, MJ1
Ruiz, C1
Ruoppolo, M1
Rutledge, SL1
Ryu, E1
Saban, C1
Sahai, I1
García-Blanco, MI1
Santiago-Borrero, P1
Schenone, A1
Schoos, R1
Schweitzer, B1
Scott, P1
Seashore, MR1
Seeterlin, MA1
Sesser, DE1
Sevier, DW1
Shone, SM1
Sinclair, G1
Skrinska, VA1
Stanley, EL1
Strovel, ET1
Jones, AL1
Sunny, S1
Takats, Z1
Tanyalcin, T1
Teofoli, F1
Thompson, JR1
Tomashitis, K1
Domingos, MT1
Torres, J1
Torres, R1
Tortorelli, S1
Turi, S1
Turner, K1
Tzanakos, N1
Valiente, AG1
Vallance, H1
Vela-Amieva, M1
Vilarinho, L1
von Döbeln, U1
Vincent, MF1
Vorster, BC1
Watson, MS1
Webster, D1
Weiss, S1
Wilcken, B1
Wiley, V1
Williams, SK1
Willis, SA1
Woontner, M1
Wright, K1
Yahyaoui, R1
Yamaguchi, S1
Yssel, M1
Zakowicz, WM1
Pryce, JW1
Weber, MA1
Heales, S1
Malone, M1
Sebire, NJ1
Ko, JM1
Shin, CH1
Yang, SW1
Seong, MW1
Park, SS1
Song, J1
Osorio, JH1
Pourfarzam, M2
Fung, EL1
Tang, NL1
Ho, CS1
Lam, CW1
Fok, TF1
Aoki, J1
Yasuno, T1
Sugie, H1
Kido, H1
Nishino, I1
Shigematsu, Y2
Kanazawa, M1
Takayanagi, M1
Kumami, M1
Endo, K1
Kaneoka, H1
Yamaguchi, M1
Fukuda, T1
Yamamoto, T1
Zhang, Y1
Song, JQ1
Liu, P1
Yan, R1
Dong, JH1
Yang, YL1
Wang, LF1
Jiang, YW1
Zhang, YH1
Qin, J1
Wu, XR1
Schmidt-Sommerfeld, E1
Penn, D1
Wolf, H1
Kim, CS1
Dorgan, DR1
Roe, CR2
Layzer, RB1
Lewis, SF1
Millington, DS1
Maltby, DA1
Kamieniecka, Z1
Schmalbruch, H1
Carroll, JE1
Brooke, MH1
DeVivo, DC1
Shumate, JB1
Kratz, R1
Ringel, SP1
Hagberg, JM1
Angelini, C3
Philippart, M1
Borrone, C1
Bresolin, N1
Cantini, M1
Lucke, S1
Nakai, A1
Liu, YY1
Kikawa, Y1
Sudo, M1
Fujioka, M1
Sekas, G1
Paul, HS1
Sewell, AC1
Böhles, HJ1
Jones, MG1
Chalmers, RA1
Verrotti, A1
Greco, R1
Morgese, G1
Chiarelli, F1
Braida, L1
Crovella, S1
Boniotto, M1
Luchesi, A1
de Vonderweid, U1
Casetta, B1
Amoroso, A1
Tyni, T1
Turnbull, DM2
Bratton, SL1
Garden, AL1
Bohan, TP1
French, JW1
Clarke, WR1
Salonen, V1
Nikoskelainen, J1
Heinonen, OJ1
Kalimo, H1
Aula, P1
Rodrigues Pereira, R1
Przyrembel, H1
Scholte, HR2
DiDonato, S1
Gellera, C1
Peluchetti, D1
Uziel, G1
Antonelli, A1
Lus, G1
Rimoldi, M1
Cornelio, F1
Di Donato, S1
Bartlett, K1
Eyre, JA1
Gardner-Medwin, D1
Johnson, MA1
Fisher, J1
Watmough, NJ1
Pande, SV1
Ibayashi, H1
Ideguchi, H1
Harada, N1
Ishimoto, S1
Goto, I1
Matsuishi, T1
Yuge, K1
Aramaki, S1
Yoshino, M1
Yoshida, I1
Yamashita, F1
Stumpf, DA1
Parker, WD1
de Visser, M1
Schutgens, RB1
Bolhuis, PA1
Luyt-Houwen, IE1
Vaandrager-Verduin, MH1
Veder, HA1
Oey, PL1
Hale, DE1
Cruse, RP1
Engel, A1
Yderstraede, KB1
Markesbery, WR1
McQuillen, MP1
Procopis, PG1
Harrison, AR1
Engel, AG1

Reviews

10 reviews available for carnitine and Metabolic Diseases

ArticleYear
Inherited Disorders of Lysine Metabolism: A Review.
    The Journal of nutrition, 2020, 10-01, Volume: 150, Issue:Suppl 1

    Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Arginine; Brain; B

2020
Gut microorganisms and cardiovascular disease: carnitine is the answer.
    Bratislavske lekarske listy, 2014, Volume: 115, Issue:11

    Topics: Cardiovascular Diseases; Carnitine; Gastrointestinal Tract; Humans; Intestinal Mucosa; Intestines; M

2014
Acylcarnitines--old actors auditioning for new roles in metabolic physiology.
    Nature reviews. Endocrinology, 2015, Volume: 11, Issue:10

    Topics: Carnitine; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Metabolic Diseases; Metabolic

2015
Disorders of carnitine biosynthesis and transport.
    Molecular genetics and metabolism, 2015, Volume: 116, Issue:3

    Topics: Animals; Autism Spectrum Disorder; Biological Transport; Cardiomyopathies; Carnitine; Fatty Acids; H

2015
Story behind meldonium-from pharmacology to performance enhancement: a narrative review.
    British journal of sports medicine, 2017, Volume: 51, Issue:1

    Topics: Athletes; Athletic Performance; Cardiovascular Diseases; Carnitine; Doping in Sports; Humans; Metabo

2017
Carnitine in metabolic disease: potential for pharmacological intervention.
    Pharmacology & therapeutics, 2008, Volume: 120, Issue:2

    Topics: Animals; Carnitine; Clinical Trials as Topic; Humans; Kidney Failure, Chronic; Metabolic Diseases; R

2008
Neuromuscular disorders with abnormal muscle mitochondria.
    International review of cytology, 1980, Volume: 65

    Topics: Animals; Carnitine; Diagnosis, Differential; Female; Humans; Lipid Metabolism; Male; Metabolic Disea

1980
Acylcarnitines in intermediary metabolism.
    European journal of pediatrics, 1995, Volume: 154, Issue:11

    Topics: Acylation; Cardiomyopathies; Cardiotonic Agents; Carnitine; Humans; Metabolic Diseases

1995
[Pathogenesis and pathophysiology of carnitine deficiency, a predictable risk].
    Tijdschrift voor kindergeneeskunde, 1990, Volume: 58, Issue:5

    Topics: Adult; Cardiomyopathies; Carnitine; Child; Child, Preschool; Female; Hepatic Encephalopathy; Humans;

1990
Carnitine deficiency, organic acidemias, and Reye's syndrome.
    Neurology, 1985, Volume: 35, Issue:7

    Topics: Acids; Acyl Coenzyme A; Carnitine; Humans; Metabolic Diseases; Reye Syndrome

1985

Trials

3 trials available for carnitine and Metabolic Diseases

ArticleYear
The Association of Acylcarnitines and Amino Acids With Age in Dutch and South-Asian Surinamese Living in Amsterdam.
    The Journal of clinical endocrinology and metabolism, 2018, 10-01, Volume: 103, Issue:10

    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].
    Zhonghua er ke za zhi = Chinese journal of pediatrics, 2007, Volume: 45, Issue:7

    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.
    The Journal of pediatrics, 1983, Volume: 102, Issue:6

    Topics: Carnitine; Dietary Fats; Fatty Acids, Nonesterified; Humans; Hydroxybutyrates; Infant, Newborn; Infa

1983

Other Studies

49 other studies available for carnitine and Metabolic Diseases

ArticleYear
Untargeted metabolomic analysis of urine samples for diagnosis of inherited metabolic disorders.
    Functional & integrative genomics, 2021, Volume: 21, Issue:5-6

    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.
    Journal of genetics and genomics = Yi chuan xue bao, 2022, Volume: 49, Issue:7

    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.
    Scientific reports, 2019, Oct-01, Volume: 9, Issue:1

    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.
    Veterinary journal (London, England : 1997), 2020, Volume: 255

    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.
    Molecular genetics and metabolism, 2021, Volume: 132, Issue:4

    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.
    American journal of human genetics, 2017, Oct-05, Volume: 101, Issue:4

    Topics: Alleles; Alternative Splicing; Animals; Biological Transport; Carnitine; Cells, Cultured; Cohort Stu

2017
Plasma acylcarnitine concentrations reflect the acylcarnitine profile in cardiac tissues.
    Scientific reports, 2017, 12-13, Volume: 7, Issue:1

    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.
    The Tohoku journal of experimental medicine, 2018, Volume: 244, Issue:4

    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.
    Molecular genetics and metabolism, 2018, Volume: 125, Issue:1-2

    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.
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2019, Volume: 33, Issue:1

    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.
    Journal of clinical laboratory analysis, 2015, Volume: 29, Issue:2

    Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbox

2015
Metabolomic Research on Newborn Infants With Intrauterine Growth Restriction.
    Medicine, 2016, Volume: 95, Issue:17

    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.
    Journal of inherited metabolic disease, 2017, Volume: 40, Issue:2

    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.
    Nucleosides, nucleotides & nucleic acids, 2008, Volume: 27, Issue:6

    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.
    Journal of inherited metabolic disease, 2009, Volume: 32, Issue:1

    Topics: Amino Acids; Blood Chemical Analysis; Blood Specimen Collection; Carnitine; Cohort Studies; Efficien

2009
Addition of formic acid improves acetonitrile extraction of dicarboxylic acylcarnitines.
    Clinica chimica acta; international journal of clinical chemistry, 2009, Jun-27, Volume: 404, Issue:2

    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.
    Journal of child neurology, 2010, Volume: 25, Issue:8

    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.
    Clinica chimica acta; international journal of clinical chemistry, 2010, May-02, Volume: 411, Issue:9-10

    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.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2011, Volume: 13, Issue:3

    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.
    Journal of clinical pathology, 2011, Volume: 64, Issue:11

    Topics: Autopsy; Bile; Carnitine; Humans; Infant; Infant, Newborn; Liver; Metabolic Diseases; Organ Size; Po

2011
Future directions in metabolic disease testing.
    Clinical biochemistry, 2011, Volume: 44, Issue:7

    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.
    Journal of Korean medical science, 2012, Volume: 27, Issue:8

    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.
    Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas, 2002, Volume: 35, Issue:11

    Topics: Adolescent; Carnitine; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Metab

2002
Carnitine level in Chinese epileptic patients taking sodium valproate.
    Pediatric neurology, 2003, Volume: 28, Issue:1

    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.
    Neurology, 2007, Aug-21, Volume: 69, Issue:8

    Topics: Adult; Age of Onset; Amino Acid Substitution; Asian People; Carnitine; Carnitine O-Palmitoyltransfer

2007
L-carnitine: therapeutic strategy for metabolic encephalopathy.
    Brain research, 1984, Sep-17, Volume: 310, Issue:1

    Topics: Animals; Biological Transport, Active; Brain Diseases; Caprylates; Carnitine; Choroid Plexus; In Vit

1984
Clinical disorders of muscle energy metabolism.
    Medicine and science in sports and exercise, 1984, Volume: 16, Issue:5

    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.
    Biomedical mass spectrometry, 1984, Volume: 11, Issue:5

    Topics: Acetylcarnitine; Acidosis; Carnitine; Humans; Magnetic Resonance Spectroscopy; Malonates; Mass Spect

1984
Carnitine "deficiency": lack of response to carnitine therapy.
    Neurology, 1980, Volume: 30, Issue:6

    Topics: Adolescent; Carnitine; Fasting; Fatty Acids, Nonesterified; Female; Humans; Metabolic Diseases; Musc

1980
Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.
    Annals of neurology, 1980, Volume: 7, Issue:1

    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.
    Acta paediatrica Japonica : Overseas edition, 1994, Volume: 36, Issue:1

    Topics: Adolescent; Carnitine; Female; Humans; Infant; Mass Spectrometry; Metabolic Diseases; Propionates; S

1994
Hyperammonemia and carnitine deficiency in a patient receiving sulfadiazine and pyrimethamine.
    The American journal of medicine, 1993, Volume: 95, Issue:1

    Topics: Adult; Ammonia; Carnitine; Drug Therapy, Combination; Humans; Male; Metabolic Diseases; Pyrimethamin

1993
Analysis of acylcarnitines by gas chromatography-electron impact mass spectrometry.
    Biochemical Society transactions, 1995, Volume: 23, Issue:4

    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.
    International journal of clinical & laboratory research, 1999, Volume: 29, Issue:1

    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.
    Prenatal diagnosis, 2001, Volume: 21, Issue:7

    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.
    Pediatric research, 2002, Volume: 52, Issue:1

    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.
    Journal of child neurology, 1992, Volume: 7, Issue:4

    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].
    Duodecim; laaketieteellinen aikakauskirja, 1992, Volume: 108, Issue:11

    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].
    Acta neurologica, 1989, Volume: 11, Issue:5

    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.
    Annals of neurology, 1989, Volume: 25, Issue:5

    Topics: Acyl-CoA Dehydrogenases; Carnitine; Child; Female; Humans; Metabolic Diseases; Muscular Diseases; Ri

1989
Myopathies due to enzyme deficiencies.
    Journal of neurology, 1985, Volume: 232, Issue:6

    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.
    Developmental medicine and child neurology, 1988, Volume: 30, Issue:5

    Topics: Carnitine; Female; Glutarates; Glutaryl-CoA Dehydrogenase; Glycine; Humans; Infant; Lipid Metabolism

1988
[Carnitine and intermediary metabolism].
    L'union medicale du Canada, 1988, Feb-25, Volume: 117, Issue:1

    Topics: Carnitine; Humans; Metabolic Diseases

1988
Systemic triglyceride storage disease with normal carnitine: a putative defect in long-chain fatty acid metabolism.
    Journal of the neurological sciences, 1988, Volume: 85, Issue:2

    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.
    Brain & development, 1988, Volume: 10, Issue:2

    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.
    Neurology, 1986, Volume: 36, Issue:3

    Topics: Adolescent; Carnitine; Child; Fatty Acids; Female; Fibroblasts; Glutarates; Humans; Infant; Lipid Me

1986
Familial systemic carnitine deficiency.
    Archives of neurology, 1985, Volume: 42, Issue:12

    Topics: Carnitine; Child, Preschool; Female; Humans; Metabolic Diseases

1985
[Carnitine. Deficiency syndromes and their treatment].
    Ugeskrift for laeger, 1985, Dec-09, Volume: 147, Issue:50

    Topics: Carnitine; Humans; Lipid Metabolism; Metabolic Diseases; Syndrome

1985
Muscle carnitine deficiency. Association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytes.
    Archives of neurology, 1974, Volume: 31, Issue:5

    Topics: Atrophy; Biological Transport; Carnitine; Electromyography; Female; Humans; Leukocytes; Lipid Metabo

1974