carnitine has been researched along with Metabolism, Inborn Errors in 245 studies
Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Could 10-20% of autism be prevented? We hypothesize that nonsyndromic or "essential" autism involves extreme male bias in infants who are genetically normal, but they develop deficiency of carnitine and perhaps other nutrients in the brain causing autism that may be amenable to early reversal and prevention." | 8.95 | Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis. ( Beaudet, AL, 2017) |
| "To assess the effectiveness and safety of carnitine supplementation in the treatment of inborn errors of metabolism." | 8.88 | Carnitine supplementation for inborn errors of metabolism. ( Fedorowicz, Z; Javaheri, H; Nasser, M; Noorani, Z, 2012) |
| "To assess the effectiveness and safety of carnitine supplementation in the treatment of inborn errors of metabolism." | 8.85 | Carnitine supplementation for inborn errors of metabolism. ( Fedorowicz, Z; Javaheri, H; Nasser, M; Noorani, Z, 2009) |
| "Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) metabolism caused by mutations in MMACHC." | 7.76 | Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. ( Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C, 2010) |
| "Close observation of plasma amino acid, carnitine, and acylcarnitine profiles was performed in a patient with IVA that completed uneventful pregnancy." | 7.76 | Maternal isovaleric acidemia: observation of distinctive changes in plasma amino acids and carnitine profiles during pregnancy. ( Castelnovi, C; Moseley, K; Yano, S, 2010) |
| " Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria." | 7.74 | Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). ( Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ, 2007) |
| "A patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described." | 7.73 | Pericardial effusion in primary systemic carnitine deficiency. ( Charoenpipop, D; Khowsathit, P; Kim, SZ; Levy, HL; Shih, VE; Suthutvoravut, U; Visudtibhan, A; Wattanasirichaigoon, D, 2006) |
| "We report on a favourable pregnancy in a woman affected by mut- methylmalonic acidaemia." | 7.71 | Successful pregnancy in a woman with mut- methylmalonic acidaemia. ( Baiocco, F; Boenzi, S; Deodato, F; Dionisi-Vici, C; Rizzo, C; Sabetta, G, 2002) |
| "Endocardial fibroelastosis (EFE) has previously been shown to be associated with tissue carnitine deficiency, although the basis for the carnitine deficiency has not been documented." | 7.69 | Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter. ( Bennett, MJ; Hale, DE; Pollitt, RJ; Stanley, CA; Variend, S, 1996) |
| "Fraternal twins who had fasting hypoglycemia, hypoketonemia, muscle weakness, and hepatic dysfunction are reported." | 5.27 | Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet. ( Bier, DM; Brown, BI; Dickie, M; Engel, AG; Glasgow, AM; Perry, LW; Todaro, J; Utter, MF, 1983) |
| "Could 10-20% of autism be prevented? We hypothesize that nonsyndromic or "essential" autism involves extreme male bias in infants who are genetically normal, but they develop deficiency of carnitine and perhaps other nutrients in the brain causing autism that may be amenable to early reversal and prevention." | 4.95 | Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis. ( Beaudet, AL, 2017) |
| "To assess the effectiveness and safety of carnitine supplementation in the treatment of inborn errors of metabolism." | 4.88 | Carnitine supplementation for inborn errors of metabolism. ( Fedorowicz, Z; Javaheri, H; Nasser, M; Noorani, Z, 2012) |
| "To assess the effectiveness and safety of carnitine supplementation in the treatment of inborn errors of metabolism." | 4.85 | Carnitine supplementation for inborn errors of metabolism. ( Fedorowicz, Z; Javaheri, H; Nasser, M; Noorani, Z, 2009) |
| "Carnitine deficiency is a secondary complication of many inborn errors of metabolism." | 4.82 | Treatment of carnitine deficiency. ( Winter, SC, 2003) |
| "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) |
| "Macrosomia is an interfering factor for the analytes C3 and C18:1, leading to higher risk of false-positive results for methylmalonic/propionic acidemia and carnitine palmitoyl transferase type 2 deficiency, respectively." | 3.96 | Neonatal Macrosomia is an Interfering Factor for Analytes on the Colorado State Newborn Screen. ( Baker, PR; Wright, EL, 2020) |
| "Certain inborn errors of metabolism result from deficiencies in biotin containing enzymes." | 3.81 | Biotin deprivation impairs mitochondrial structure and function and has implications for inherited metabolic disorders. ( Corella, JA; Díaz-Ruiz, R; Hernández-Vázquez, Ade J; Ibarra-González, I; Ochoa-Ruiz, E; Ortega-Cuéllar, D; Ortiz-Plata, A; Rembao, D; Uribe-Carvajal, S; Velázquez-Arellano, A; Viollet, B, 2015) |
| "Infants often develop hypocarnitinemia and resultant hypoglycemia during long-term treatment with antibiotics that contain pivalic acid, but it is unknown whether maternal treatment with such agents during pregnancy induces hypocarnitinemia in fetuses or neonates." | 3.80 | Newborn hypocarnitinemia due to long-term transplacental pivalic acid passage. ( Kubota, M; Nasu, T; Suzuki, M; Uetake, K, 2014) |
| "Screening for inborn errors of metabolism using mass spectrometry is part of nationwide newborn screening programs and involves the detection of disease relevant (acyl-)carnitines and organic acids from dried blood spots." | 3.79 | Matrix-assisted laser desorption/ionization for simultaneous quantitation of (acyl-)carnitines and organic acids in dried blood spots. ( Dieplinger, R; Kasper, DC; Lutsch, NM; Mechtler, TP; Metz, TF; Ostermann, KM; Strupat, K, 2013) |
| "Urinary organic acids, plasma amino acids and acylcarnitine profile analyses are the main tools used to diagnose inborn errors of metabolisms (IEMs)." | 3.78 | Quantification of acylglycines in human urine by HPLC electrospray ionization-tandem mass spectrometry and the establishment of pediatric reference interval in local Chinese. ( Fong, BM; Leung, KS; Tam, S, 2012) |
| "Close observation of plasma amino acid, carnitine, and acylcarnitine profiles was performed in a patient with IVA that completed uneventful pregnancy." | 3.76 | Maternal isovaleric acidemia: observation of distinctive changes in plasma amino acids and carnitine profiles during pregnancy. ( Castelnovi, C; Moseley, K; Yano, S, 2010) |
| "Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) metabolism caused by mutations in MMACHC." | 3.76 | Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. ( Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C, 2010) |
| " They may be suitable for the retrospective diagnosis of inborn errors of metabolism, but no data are currently available on the long-term stability of amino acids and acylcarnitine species." | 3.74 | Long-term stability of amino acids and acylcarnitines in dried blood spots. ( Bodamer, OA; Heinze, G; Holub, M; Lebl, J; Mascher, H; Mühl, A; Ratschmann, R; Stöckler-Ipsiroglu, S; Strnadová, KA; Votava, F; Waldhauser, F, 2007) |
| " Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria." | 3.74 | Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). ( Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ, 2007) |
| "A patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described." | 3.73 | Pericardial effusion in primary systemic carnitine deficiency. ( Charoenpipop, D; Khowsathit, P; Kim, SZ; Levy, HL; Shih, VE; Suthutvoravut, U; Visudtibhan, A; Wattanasirichaigoon, D, 2006) |
| " Seven inborn errors of metabolism-- phenylketonuria (PKU), glutaric acidemia type I (GA-I), 3-methylcrotonylglycinemia deficiency (3-MCCD), methylmalonic acidemia (MMA), propionic acidemia (PA), medium-chain acylCoAdehydrogenase deficiency (MCADD), and 3-OH long-chain acyl CoA dehydrogenase deficiency (LCHADD)-were investigated." | 3.73 | Biomarker discovery, disease classification, and similarity query processing on high-throughput MS/MS data of inborn errors of metabolism. ( Baumgartner, C; Baumgartner, D, 2006) |
| "Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with two consecutive elevated 3-hydroxyisovalerylcarnitine (C5OH) levels have been evaluated for evidence of inborn errors of metabolism associated with this metabolite." | 3.72 | Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. ( Boney, A; Chaing, S; Frazier, DM; Kishnani, PS; Koeberl, DD; McCandless, SE; McDonald, MT; Millington, DS; Moore, E; Muenzer, J; Smith, WE; Weavil, SD, 2003) |
| "We report on a favourable pregnancy in a woman affected by mut- methylmalonic acidaemia." | 3.71 | Successful pregnancy in a woman with mut- methylmalonic acidaemia. ( Baiocco, F; Boenzi, S; Deodato, F; Dionisi-Vici, C; Rizzo, C; Sabetta, G, 2002) |
| "Measurement of free carnitine and acylcarnitines allows the detection of several inborn errors of metabolism in neonatal screening." | 3.71 | Acylcarnitine profiles of preterm infants over the first four weeks of life. ( Hoffmann, GF; Kohlmueller, D; Linderkamp, O; Mayatepek, E; Meyburg, J; Pöschl, J; Schulze, A, 2002) |
| "Tandem mass spectrometric analysis of acylcarnitines and amino acids has been applied in newborn screening programmes for the detection of several inborn errors of metabolism." | 3.70 | Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme. ( Abdenur, JE; Chamoles, NA; Fuertes, AN; Guinle, AE; Schenone, AB, 1998) |
| " Treatment with medium chain triglycerides and L-carnitine in the diet improved his hepatomegaly and cardiomegaly." | 3.70 | Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy. ( Abo, W; Doi, T; Fukao, T; Hayashi, K; Hori, T; Nakada, T; Takahashi, Y; Tateno, M; Terada, N, 2000) |
| "Endocardial fibroelastosis (EFE) has previously been shown to be associated with tissue carnitine deficiency, although the basis for the carnitine deficiency has not been documented." | 3.69 | Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter. ( Bennett, MJ; Hale, DE; Pollitt, RJ; Stanley, CA; Variend, S, 1996) |
| "Metabolic profiling of amino acids and acylcarnitines from blood spots by automated electrospray tandem mass spectrometry (ESI-MS/MS) is a powerful diagnostic tool for inborn errors of metabolism." | 3.69 | Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. ( Alamoudi, M; Alwattar, M; Awad, A; Bucknall, MP; Jacob, M; Little, D; Ozand, PT; Rashed, MS, 1997) |
| "L-carnitine treatment prevented this fall in plasma carnitine and resulted in greater increases in excretion of acylcarnitines." | 2.71 | L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study. ( Chalmers, RA; Harrison, EL; Jones, MG; Jones, S; Lee, PJ; Leonard, JV, 2005) |
| "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) |
| "Many inborn errors of metabolism (IEMs) may present as sudden infant death (SID)." | 2.53 | Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes. ( Bekhof, J; de Koning, TJ; Derks, TG; Heiner Fokkema, MR; Koolhaas, GD; Schielen, PC; van Rijt, WJ; van Spronsen, FJ; Visser, G, 2016) |
| "Many genetic diseases, especially the inborn errors of metabolism, have very low incidences, so developing a newborn screening test for each disease is not practical." | 2.50 | Application of mass spectrometry in newborn screening: about both small molecular diseases and lysosomal storage diseases. ( Chiang, SC; Chien, YH; Hsu, LW; Hwu, WL; Lee, NC; Wang, SF, 2014) |
| "This disorder, known as phenylketonuria, produces profound mental retardation if not detected and treated early in life." | 2.43 | A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. ( Chace, DH; Kalas, TA, 2005) |
| "Carnitine functions as a substrate for a family of enzymes, carnitine acyltransferases, involved in acyl-coenzyme A metabolism and as a carrier for long-chain fatty acids into mitochondria." | 2.40 | Genetic disorders of carnitine metabolism and their nutritional management. ( Hoppel, C; Kerner, J, 1998) |
| "Carnitine plays an essential role in the transfer of long-chain fatty acids across the inner mitochondrial membrane, in the detoxification of acyl moieties, and in maintaining normal levels of free coenzyme A." | 2.40 | Primary and secondary alterations of neonatal carnitine metabolism. ( Longo, N; Scaglia, F, 1999) |
| "Malonic aciduria is an extremely rare inborn error of metabolism due to malonyl-CoA decarboxylase deficiency." | 1.62 | Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family. ( Abily-Donval, L; Bekri, S; Goldenberg, A; Marret, S; Salomons, GS; Snanoudj, S; Sudrié-Arnaud, B; Tebani, A; Torre, S, 2021) |
| "Background Individual inborn errors of metabolism (IEMs) are rare disorders." | 1.56 | Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing. ( Gong, LF; Kong, YY; Liu, W; Ma, ZJ; Wan, ZH; Yang, HH; Yang, N; Zhao, JQ, 2020) |
| "Acylcarnitine profile (ACP) is a useful tool in the biochemical diagnosis and monitoring of many acquired and inherited metabolic disorders." | 1.40 | Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children. ( El-Mesellamy, H; Fateen, E; Gouda, AS; Zaki, SS, 2014) |
| "Acylcarnitines were separated on a reverse phase column and detected with triple quadrupole linear ion trap mass spectrometry." | 1.39 | Separation and identification of underivatized plasma acylcarnitine isomers using liquid chromatography-tandem mass spectrometry for the differential diagnosis of organic acidemias and fatty acid oxidation defects. ( Cai, Y; Fang, X; Huang, Y; Liang, C; Lin, R; Liu, L; Peng, M, 2013) |
| "Expanded newborn screening of inborn errors of metabolism (IEM) based on tandem mass spectrometry technology has emerged as one of the most successful preventative healthcare initiatives for presymptomatic diagnosis and treatment of rare yet treatable genetic diseases." | 1.39 | Expanded newborn screening of inborn errors of metabolism by capillary electrophoresis-electrospray ionization-mass spectrometry (CE-ESI-MS). ( Britz-McKibbin, P, 2013) |
| "Data of classical inborn errors of metabolism (IEM) of amino acids, organic acids and fatty acid oxidation are largely lacking in Hong Kong, where mass spectrometry-based expanded newborn screening for IEM has not been initiated." | 1.37 | Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong. ( Chan, AO; Chan, AY; Chen, SP; Ching, CK; Lai, CK; Lam, CW; Law, CY; Lee, HC; Mak, CM; Shek, CC; Siu, TS; Siu, WK; Tai, HL; Tam, S; Yuen, YP, 2011) |
| "Acylcarnitine profile was performed in five patients using tandem mass spectrometry." | 1.37 | Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency. ( Angelini, C; Anichini, A; Bruno, C; Cassandrini, D; Fanin, M; Fiorillo, C; Vianey-Saban, C, 2011) |
| " Information on therapeutic usage, administration, and dosage was also recorded." | 1.36 | Setting up an emergency stock for metabolic diseases. ( Fernandez-Llamazares, CM; Manrique-Rodríguez, S; Sanjurjo-Sáez, M; Serrano, ML, 2010) |
| "Four carnitine cycle defects have been described." | 1.35 | Disorders of the carnitine cycle and detection by newborn screening. ( Wilcken, B, 2008) |
| "Propionic acidemia is a hereditary metabolic disease caused by a deficiency of enzyme propionyl-CoA carboxylase, which is involved in the catabolism of ramified amino acids, odd-chain fatty acids, and other metabolites; the deficiency of this enzyme leads to an accumulation of toxic substances in the body." | 1.34 | Subacute presentation of propionic acidemia. ( de la Sierra García-Valdecasas, M; del Portal, LR; Delgado, C; Jiménez, LM; Macías, C; Pérez, M, 2007) |
| "In total, 29 cases of inborn errors of metabolism were detected." | 1.33 | Tandem mass neonatal screening in Taiwan--report from one center. ( Chien, YH; Chu, KL; Huang, HP; Hwu, WL; Wang, SF; Wei, ML; Wu, ST, 2006) |
| "In 106 newborns, confirmed inborn errors of metabolism were found." | 1.32 | Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. ( Hoffmann, GF; Kohlmüller, D; Lindner, M; Mayatepek, E; Olgemöller, K; Schulze, A, 2003) |
| "Predominant clinical features include microcephaly, hydrocephalus, seizures, and white-matter changes on magnetic resonance imaging in early-onset cases." | 1.31 | Practical management of combined methylmalonicaciduria and homocystinuria. ( Bodamer, OA; Smith, DL, 2002) |
| "We have prospectively detected 163 inborn errors of metabolism." | 1.30 | Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. ( Chace, DH; Naylor, EW, 1999) |
| "This allows detection of more than 30 inborn errors of metabolism of amino acids, fatty acids, and other organic acids." | 1.30 | Design of a pilot study to evaluate tandem mass spectrometry for neonatal screening. ( Brandt, NJ; Christensen, E; Jensen, UG; Nørgaard-Pedersen, B; Simonsen, H; Skovby, F, 1999) |
| "Hypocarnitinemia was a common finding." | 1.29 | Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. ( Aparicio, M; Font, LM; Garcia, MJ; Garzo, C; Lorenzo, G; Martinez Pardo, M; Martinez-Bermejo, A; Merinero, B; Pascual Castroviejo, I; Pérez-Cerdá, C, 1995) |
| "Creatine excretion was measured in two patients with methylmalonic aciduria and two patients with 3-hydroxy-3-methylglutaric aciduria." | 1.28 | Creatine metabolism during metabolic perturbations in patients with organic acidurias. ( Chalmers, RA; Davies, SE; Iles, RA; Stacey, TE, 1990) |
| "In patients diagnosed as Reye syndrome, tissue carnitine deficiency was not always recognized and no decrease in the free/total carnitine ratio was found in the liver or muscle." | 1.28 | Carnitine deficiency in inherited organic acid disorders and Reye syndrome. ( Kidouchi, K; Kobayashi, M; Sugiyama, N; Wada, Y, 1990) |
| "Carnitine metabolism was studied in a 7-y-old boy with propionic acidemia due to an almost total deficiency of propionyl-CoA carboxylase." | 1.28 | Metabolic studies of carnitine in a child with propionic acidemia. ( Goldblatt, PJ; Gunning, WT; Hoppel, CL; Kurczynski, TW, 1989) |
| "Treatment with carnitine, started during the third period of artificial ventilation, led to some improvement of muscle strength, but he still could not breathe without support." | 1.27 | Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin. ( Blom, W; Giesberts, MA; Mooy, PD; Przyrembel, H; Scholte, HR; van Gelderen, HH, 1984) |
| "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) |
| "Thus, this disease is revealed by a coma due to hypoglycemia in a young child; the presence of dicarboxylic aciduria in such a situation is the main evidence for this diagnosis." | 1.27 | [Medium chain acyl-CoA dehydrogenase deficiency. Apropos of a case with demonstration of this enzyme deficiency]. ( Blanc, JF; Collet, JP; David, M; Divry, P; Guibaud, P; Hermier, M; Macabeo, V; Vibert, J, 1984) |
| "Fraternal twins who had fasting hypoglycemia, hypoketonemia, muscle weakness, and hepatic dysfunction are reported." | 1.27 | Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet. ( Bier, DM; Brown, BI; Dickie, M; Engel, AG; Glasgow, AM; Perry, LW; Todaro, J; Utter, MF, 1983) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 38 (15.51) | 18.7374 |
| 1990's | 59 (24.08) | 18.2507 |
| 2000's | 78 (31.84) | 29.6817 |
| 2010's | 58 (23.67) | 24.3611 |
| 2020's | 12 (4.90) | 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 |
| Ziats, CA | 1 |
| Burns, WB | 1 |
| Tedder, ML | 1 |
| Pollard, L | 1 |
| Wood, T | 1 |
| Champaigne, NL | 1 |
| Snanoudj, S | 2 |
| Torre, S | 1 |
| Sudrié-Arnaud, B | 2 |
| Abily-Donval, L | 1 |
| Goldenberg, A | 1 |
| Salomons, GS | 2 |
| Marret, S | 1 |
| Bekri, S | 1 |
| Tebani, A | 2 |
| Maier, EM | 1 |
| Mütze, U | 1 |
| Janzen, N | 1 |
| Steuerwald, U | 1 |
| Nennstiel, U | 1 |
| Odenwald, B | 1 |
| Schuhmann, E | 1 |
| Lotz-Havla, AS | 1 |
| Weiss, KJ | 1 |
| Hammersen, J | 1 |
| Weigel, C | 1 |
| Thimm, E | 1 |
| Grünert, SC | 2 |
| Hennermann, JB | 1 |
| Freisinger, P | 1 |
| Krämer, J | 1 |
| Das, AM | 1 |
| Illsinger, S | 1 |
| Gramer, G | 1 |
| Fang-Hoffmann, J | 1 |
| Garbade, SF | 1 |
| Okun, JG | 2 |
| Hoffmann, GF | 8 |
| Kölker, S | 3 |
| Röschinger, W | 2 |
| Almannai, M | 1 |
| Alfadhel, M | 1 |
| El-Hattab, AW | 2 |
| Tan, J | 1 |
| Chen, D | 1 |
| Huang, J | 1 |
| Chang, R | 1 |
| Yan, T | 1 |
| Cai, R | 1 |
| Wright, EL | 1 |
| Baker, PR | 1 |
| Joshi, PR | 1 |
| Zierz, S | 2 |
| Yang, N | 1 |
| Gong, LF | 1 |
| Zhao, JQ | 1 |
| Yang, HH | 1 |
| Ma, ZJ | 1 |
| Liu, W | 1 |
| Wan, ZH | 1 |
| Kong, YY | 1 |
| Wang, S | 1 |
| Leng, J | 1 |
| Diao, C | 1 |
| Wang, Y | 2 |
| Zheng, R | 1 |
| Nowoczyn, M | 1 |
| Acquaviva-Bourdain, C | 2 |
| Corne, C | 1 |
| Minet-Quinard, R | 1 |
| Van Noolen, L | 1 |
| Garnotel, R | 1 |
| Dessein, AF | 1 |
| Imbard, A | 1 |
| Dabaj, I | 1 |
| Meinhardt, B | 1 |
| Motlagh Scholle, L | 1 |
| Seifert, F | 1 |
| Anwand, M | 1 |
| Pietzsch, M | 1 |
| Stenlid, R | 1 |
| Olsson, D | 1 |
| Cen, J | 1 |
| Manell, H | 1 |
| Haglind, C | 1 |
| Chowdhury, AI | 1 |
| Bergsten, P | 1 |
| Nordenström, A | 1 |
| Halldin, M | 1 |
| Aldubayan, SH | 1 |
| Rodan, LH | 1 |
| Berry, GT | 1 |
| Levy, HL | 2 |
| Beaudet, AL | 2 |
| Céspedes, N | 1 |
| Valencia, A | 1 |
| Echeverry, CA | 1 |
| Arce-Plata, MI | 1 |
| Colón, C | 1 |
| Castiñeiras, DE | 1 |
| Hurtado, PM | 1 |
| Cocho, JA | 1 |
| Herrera, S | 1 |
| Arévalo-Herrera, M | 1 |
| El-Gharbawy, A | 1 |
| Vockley, J | 4 |
| Knottnerus, SJG | 1 |
| Bleeker, JC | 1 |
| Wüst, RCI | 1 |
| Ferdinandusse, S | 1 |
| IJlst, L | 2 |
| Wijburg, FA | 2 |
| Wanders, RJA | 1 |
| Visser, G | 3 |
| Houtkooper, RH | 1 |
| Janeiro, P | 1 |
| Jotta, R | 1 |
| Ramos, R | 1 |
| Florindo, C | 1 |
| Ventura, FV | 1 |
| Vilarinho, L | 3 |
| Tavares de Almeida, I | 1 |
| Gaspar, A | 1 |
| Sarker, SK | 1 |
| Islam, MT | 1 |
| Biswas, A | 1 |
| Bhuyan, GS | 1 |
| Sultana, R | 1 |
| Sultana, N | 1 |
| Rakhshanda, S | 1 |
| Begum, MN | 1 |
| Rahat, A | 1 |
| Yeasmin, S | 1 |
| Khanam, M | 1 |
| Saha, AK | 1 |
| Noor, FA | 1 |
| Sajib, AA | 1 |
| Islam, ABMMK | 1 |
| Qadri, SK | 1 |
| Shahidullah, M | 1 |
| Mannan, MA | 1 |
| Muraduzzaman, AKM | 1 |
| Shirin, T | 1 |
| Rahman, SM | 1 |
| Qadri, SS | 1 |
| Saha, N | 1 |
| Akhteruzzaman, S | 1 |
| Qadri, F | 1 |
| Mannoor, K | 1 |
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| Kordoni, V | 1 |
| Bain, MD | 1 |
| Rafter, JE | 1 |
| Iles, RA | 2 |
| Straussberg, R | 1 |
| Harel, L | 1 |
| Varsano, I | 1 |
| Elpeleg, ON | 2 |
| Shamir, R | 1 |
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| Rashed, MS | 2 |
| Bucknall, MP | 1 |
| Little, D | 1 |
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| Guffon, N | 2 |
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| Bove, KE | 1 |
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| Becchi, M | 1 |
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| Roe, DS | 2 |
| Heinonen, OJ | 1 |
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| Naylor, EW | 2 |
| Saudubray, JM | 2 |
| Touati, G | 1 |
| Delonlay, P | 1 |
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| Kamoun, P | 1 |
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| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| 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) | ||
| In Vivo Study of Safety, Tolerability and Dosing Effect on SMN mRNA and Protein Levels of Valproic Acid in Patients With Spinal Muscular Atrophy[NCT00374075] | Phase 1 | 42 participants | Interventional | 2003-09-30 | Completed | ||
| Phase I/II Trial of Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy Type I (CARNI-VAL Type I)[NCT00661453] | Phase 1/Phase 2 | 40 participants (Actual) | Interventional | 2008-04-30 | Completed | ||
| Multi-center Phase II Trial of Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy (SMA CARNI-VAL Trial)[NCT00227266] | Phase 2 | 94 participants (Actual) | Interventional | 2005-09-30 | Completed | ||
| 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] | |||||||
(NCT00661453)
Timeframe: -2 weeks, time 0, 3 months, 6 months
| Intervention | g (Mean) | |||||
|---|---|---|---|---|---|---|
| Lean Mass Baseline | Lean Mass 3 months | Lean Mass 6 months | Fat Mass Baseline | Fat Mass 3 months | Fat Mass 6 months | |
| SMA Type 1 | 4317.15 | 4993.92 | 5133.83 | 3011.37 | 3618.25 | 4316.08 |
The maximum Compound Motor Action Potential (CMAP) is a measurement obtained through EMG testing that is associated with disease progression. In this study, we measure the maximum CMAP by stimulating one nerve in the hand and measuring the response of the muscle. This is done multiple times, the outcome used is the highest peak, or response observed. (NCT00227266)
Timeframe: 1 month prior to official enrollment, beginning of study (0 months), 6 months, 12 months (data point not available)
| Intervention | mV (Mean) | |
|---|---|---|
| Baseline | 6 months | |
| Cohort 1a Sitters Placebo Then Treatment | 2.28 | 2.32 |
| Cohort 1b Sitters Treatment | 2.93 | 2.37 |
| Cohort 2 Standers and Walkers - Treatment | 5.52 | 6.56 |
The maximum Compound Motor Action Potential (CMAP) is a measurement obtained through EMG testing that is associated with disease progression. In this study, we measure the maximum CMAP by stimulating one nerve in the hand and measuring the response of the muscle. This is done multiple times, the outcome used is the highest peak, or response observed. (NCT00227266)
Timeframe: 1 month prior to official enrollment, beginning of study (0 months), 6 months, 12 months (data point not available)
| Intervention | mV (Median) | |
|---|---|---|
| Baseline | 6 months | |
| Cohort 1a Sitters Placebo Then Treatment | 1.91 | 1.44 |
| Cohort 1b Sitters Treatment | 2.2 | 1.8 |
| Cohort 2 Standers and Walkers - Treatment | 5.3 | 5.85 |
The maximum Compound Motor Action Potential (CMAP) area is a measurement obtained through EMG testing that is associated with disease progression. In this study, we measure the maximum CMAP by stimulating one nerve in the hand and measuring the response of the muscle. This procedure is repeated multiple times. The maximum area is the response that results in the largest area under the response curve. (NCT00227266)
Timeframe: 1 month prior to official enrollment, beginning of study (0 months), 6 months, 12 months (data point not available)
| Intervention | mVms (Mean) | |
|---|---|---|
| Baseline | 6 months | |
| Cohort 1a Sitters Placebo Then Treatment | 5.46 | 5.28 |
| Cohort 1b Sitters Treatment | 5.45 | 5.26 |
| Cohort 2 Standers and Walkers - Treatment | 14.85 | 16.26 |
The maximum Compound Motor Action Potential (CMAP) area is a measurement obtained through EMG testing that is associated with disease progression. In this study, we measure the maximum CMAP by stimulating one nerve in the hand and measuring the response of the muscle. This procedure is repeated multiple times. The maximum area is the response that results in the largest area under the response curve. (NCT00227266)
Timeframe: 1 month prior to official enrollment, beginning of study (0 months), 6 months, 12 months (data point not available)
| Intervention | mVms (Median) | |
|---|---|---|
| Baseline | 6 months | |
| Cohort 1a Sitters Placebo Then Treatment | 3.6 | 3.74 |
| Cohort 1b Sitters Treatment | 4.6 | 3.4 |
| Cohort 2 Standers and Walkers - Treatment | 13.65 | 16.85 |
Comparison of Modified Hammersmith Change from baseline to 6 months. Scores range from 0 to 40. A higher score indicates a better outcome. This scale is used to assess gross motor abilities of non-ambulant children with SMA in multiple research trials as well as in clinical settings. (NCT00227266)
Timeframe: 0 months, 6 months
| Intervention | Score (Mean) | ||
|---|---|---|---|
| Baseline visit (0 weeks) | 6 Month visit (V2) | Change from Baseline | |
| Cohort 1a Sitters Placebo Then Treatment | 20.0 | 20.6 | 0.6 |
| Cohort 1b Sitters Treatment | 16.6 | 16.8 | 0.2 |
"Baseline Modified Hammersmith Extend testing. The baseline test is the score they receive during their screening visits. This scale ranges from 0 to 56. A higher score indicates a better outcome.~This scale is used to assess gross motor abilities of children with SMA in multiple research trials as well as in clinical settings." (NCT00227266)
Timeframe: 1 month prior to enrollment, at enrollment (0 months)
| Intervention | Score (Mean) | |
|---|---|---|
| Modified Hammersmith Extend at S1 (-4 weeks) | Modified Hammersmith Extend at S2 (0 weeks) | |
| Cohort 2 Experimental | 47.0 | 48.3 |
46 reviews available for carnitine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Carnitine Inborn Errors of Metabolism.
Topics: Aldehyde Oxidoreductases; Cardiomyopathies; Carnitine; Carnitine Acyltransferases; Carnitine O-Palmi | 2019 |
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Fatty Acids; Female; Genetic Association Studies; Human | 2020 |
Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.
Topics: Autistic Disorder; Blood-Brain Barrier; Brain; Cardiomyopathies; Carnitine; Female; Humans; Hyperamm | 2017 |
Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.
Topics: Carnitine; Fatty Acids; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Muscular Disease | 2018 |
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.
Topics: Animals; Carnitine; Fatty Acids; Humans; Metabolism, Inborn Errors; Mitochondria | 2018 |
Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.
Topics: Amino Acids; Autopsy; Carnitine; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Neonata | 2016 |
Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.
Topics: Cardiomyopathies; Carnitine; Deficiency Diseases; Denmark; Dietary Supplements; Genetic Testing; Hum | 2016 |
Historical Perspective on Clinical Trials of Carnitine in Children and Adults.
Topics: Administration, Intravenous; Adult; Cardiomyopathies; Carnitine; Carnitine Acyltransferases; Child; | 2016 |
Carnitine supplementation for inborn errors of metabolism.
Topics: Carnitine; Dietary Supplements; Humans; Metabolism, Inborn Errors; Vitamin B Complex | 2009 |
How to use acylcarnitine profiles to help diagnose inborn errors of metabolism.
Topics: Carnitine; Chemistry, Clinical; Child; Humans; Metabolism, Inborn Errors; Pediatrics | 2010 |
Carnitine supplementation for inborn errors of metabolism.
Topics: Carnitine; Dietary Supplements; Humans; Infant; Metabolism, Inborn Errors; Vitamin B Complex | 2012 |
Application of mass spectrometry in newborn screening: about both small molecular diseases and lysosomal storage diseases.
Topics: Amino Acids; Carnitine; Humans; Infant, Newborn; Lysosomal Storage Diseases; Metabolism, Inborn Erro | 2014 |
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.
Topics: Adult; Carnitine; Child; Diagnosis, Differential; Genetic Counseling; Humans; Metabolism, Inborn Err | 2012 |
Universal screening for inherited metabolic diseases in the neonate (and the fetus).
Topics: Acyl-CoA Dehydrogenase; Amino Acids; Carnitine; DNA; DNA Mutational Analysis; Female; Gestational Ag | 2012 |
Defects of beta-oxidation including carnitine deficiency.
Topics: Biological Transport; Carnitine; Carnitine O-Palmitoyltransferase; Deficiency Diseases; Humans; Meta | 2002 |
Treatment of carnitine deficiency.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Carnitine; Humans; Metabolism, Inborn Errors | 2003 |
Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient.
Topics: Arabs; Carnitine; Carnitine Acyltransferases; Fatal Outcome; Humans; Infant, Newborn; Israel; Male; | 2004 |
A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing.
Topics: Amino Acids; Carnitine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Spectrometry; Metab | 2005 |
[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]
Topics: Adult; Carnitine; Child; Child, Preschool; Denmark; Female; Glycogen Storage Disease Type III; Holoc | 2006 |
[Metabolic myopathies in childhood. A review in summarized form].
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Child; Child, Preschool; Cytochrome-c Oxidase Deficienc | 1984 |
Cardiac carnitine-binding protein.
Topics: Animals; Carnitine; Carrier Proteins; Cricetinae; Heart Diseases; Metabolism, Inborn Errors; Myocard | 1984 |
[Morphology of metabolic myopathies].
Topics: Carnitine; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Dis | 1984 |
[Hereditary metabolic muscular diseases caused by demonstrable enzyme defect].
Topics: alpha-Glucosidases; AMP Deaminase; Carnitine; Carnitine O-Palmitoyltransferase; Glucan 1,4-alpha-Glu | 1980 |
Possible carnitine requirement of the newborn and the effect of genetic disease on the carnitine requirement.
Topics: Adipose Tissue, Brown; Animals; Carnitine; Carnitine O-Palmitoyltransferase; Female; Humans; Infant | 1981 |
Organic acidurias and related abnormalities.
Topics: Acids; Carnitine; Diet; Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; Lactates; Lac | 1995 |
L-Carnitine.
Topics: Carnitine; Child, Preschool; Humans; Infant; Metabolism, Inborn Errors | 1996 |
[Abnormal gene expression related with symptoms in inherited metabolic disease].
Topics: Albinism; Animals; Carnitine; Gene Deletion; Gene Expression; Hydrolases; Metabolism, Inborn Errors; | 1996 |
Genetic disorders of carnitine metabolism and their nutritional management.
Topics: Animals; Carnitine; Diet, Fat-Restricted; Dietary Carbohydrates; Fatty Acids; Humans; Metabolism, In | 1998 |
Primary and secondary alterations of neonatal carnitine metabolism.
Topics: Carnitine; Diet; Fatty Acids; Humans; Infant, Newborn; Metabolism, Inborn Errors; Oxidation-Reductio | 1999 |
Recent developments in the investigation of inherited metabolic disorders using cultured human cells.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Carnitine; Carnitine O-Palmitoyltransferase; Cell Line; Fatty Acid | 1999 |
[Medium chain Acyl-Coa Dehydrogenase deficiency. A diagnostic challenge for clinicians and laboratory].
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Carnitine; Child; Child, Preschool; Female; Humans; | 1996 |
Secondary carnitine deficiency and impaired docosahexaenoic (22:6n-3) acid synthesis: a common denominator in the pathophysiology of diseases of oxidative phosphorylation and beta-oxidation.
Topics: Animals; Carnitine; Disease Models, Animal; Docosahexaenoic Acids; Humans; Metabolism, Inborn Errors | 2000 |
Metabolic myopathies.
Topics: alpha-Glucosidases; AMP Deaminase; Carnitine; Carnitine O-Palmitoyltransferase; Creatine Kinase; Fem | 1979 |
Inherited disorders of mitochondrial fatty acid oxidation.
Topics: Carnitine; Electron Transport; Fatty Acids; Humans; Metabolism, Inborn Errors; Mitochondria; Oxidati | 1992 |
Plasma and mitochondrial membrane carnitine transport defects.
Topics: Biological Transport; Carnitine; Carnitine Acyltransferases; Cell Membrane; Humans; Intracellular Me | 1992 |
Approach to the patient with a fatty acid oxidation disorder.
Topics: Acids; Carnitine; Fatty Acids; Humans; Metabolism, Inborn Errors | 1992 |
Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation.
Topics: Biological Transport, Active; Carnitine; Fatty Acids; Humans; Metabolism, Inborn Errors; Mitochondri | 1992 |
Chromatographic techniques in inborn errors of metabolism.
Topics: Acetylcarnitine; Carnitine; Chromatography, Gas; Chromatography, High Pressure Liquid; Chromatograph | 1991 |
Carnitine homeostasis in the organic acidurias.
Topics: Carnitine; Homeostasis; Humans; Mass Spectrometry; Metabolism, Inborn Errors | 1990 |
Primary carnitine deficiency.
Topics: Carnitine; Child, Preschool; Female; Humans; Infant; Male; Metabolism, Inborn Errors | 1990 |
Secondary carnitine deficiency.
Topics: Adolescent; Carnitine; Child; Female; Humans; Infant; Male; Metabolism, Inborn Errors; Vitamin B Def | 1990 |
[Pathogenesis and pathophysiology of carnitine deficiency, a predictable risk].
Topics: Adult; Cardiomyopathies; Carnitine; Child; Child, Preschool; Female; Hepatic Encephalopathy; Humans; | 1990 |
[Mitochondrial metabolism disorders and their implications for the locomotor system and heart. I].
Topics: Acetyl Coenzyme A; Amino Acids; Carbohydrate Metabolism; Carnitine; Citric Acid Cycle; DNA, Mitochon | 1989 |
Mitochondrial myopathies.
Topics: Adenosine Triphosphatases; Biological Transport; Carnitine; Citric Acid Cycle; Cytochrome-c Oxidase | 1987 |
Therapy of mitochondrial disorders.
Topics: Carnitine; Electron Transport; Enzyme Precursors; Fatty Acids; Female; Humans; Male; Metabolism, Inb | 1987 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
Carnitine metabolism and function in humans.
Topics: Absorption; Acidosis; Adolescent; Adult; Aged; Animals; Biological Transport; Cardiomyopathies; Carn | 1986 |
4 trials available for carnitine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study.
Topics: 3-Hydroxybutyric Acid; Acids; Acyl-CoA Dehydrogenase; Adolescent; Adult; Anaerobic Threshold; Blood | 2005 |
The role of carnitine supplementation in valproic acid therapy.
Topics: Carnitine; Child; Double-Blind Method; Fatty Acid Desaturases; Humans; Metabolism, Inborn Errors; Va | 1994 |
Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry.
Topics: Carnitine; Child; Chromatography, Liquid; Fatty Acids; Female; Humans; Mass Spectrometry; Metabolism | 1997 |
Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism.
Topics: Carnitine; Child; Child, Preschool; Depression, Chemical; Fasting; Female; Humans; Infant; Ketone Bo | 1986 |
195 other studies available for carnitine and Metabolism, Inborn Errors
| 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 |
3-Methylglutaconic aciduria in carriers of primary carnitine deficiency.
Topics: Adult; Cardiomyopathies; Carnitine; Female; Heterozygote; Humans; Hyperammonemia; Infant; Infant, Ne | 2021 |
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Topics: Carboxy-Lyases; Carnitine; Child, Preschool; Consanguinity; Homozygote; Humans; Male; Malonates; Mal | 2021 |
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Topics: Carnitine; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Propionic Acidemi | 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 |
Neonatal Macrosomia is an Interfering Factor for Analytes on the Colorado State Newborn Screen.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Carnitine O-Palmitoyltransferase; Colorado; | 2020 |
Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
Topics: Amino Acids; Beijing; Carnitine; Female; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; N | 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 |
[Recommendations for acylcarnitine profile analysis].
Topics: Accreditation; Adult; Amniocentesis; Amniotic Fluid; Blood Chemical Analysis; Blood Specimen Collect | 2020 |
An Unusual Peak in a Common Clinical Presentation.
Topics: Carnitine; Diagnosis, Differential; Female; Glutamate Formimidoyltransferase; Humans; Infant; Leukom | 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 |
Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of β-oxidation.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Cardiomyopathies; Carnitine; Child; Child, Preschool; Female; Ge | 2022 |
Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders.
Topics: Carnitine; Disease Management; Early Diagnosis; Emergency Medicine; Fatty Acids; Humans; Metabolism, | 2017 |
Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia.
Topics: Amino Acids; Biomarkers; Carnitine; Colombia; Cross-Sectional Studies; False Positive Reactions; Hep | 2017 |
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 |
Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.
Topics: Adolescent; Age Factors; Amino Acids; Carnitine; Child; Child, Preschool; Chromatography, Liquid; Fe | 2019 |
Implementation of a fast method for the measurement of carnitine palmitoyltransferase 2 activity in lymphocytes by tandem mass spectrometry as confirmation for newborn screening.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Case-Control Studies; Humans; Infant, Newborn; Lymphocy | 2019 |
Amino acid and acylcarnitine profiles in premature neonates: a pilot study.
Topics: Amino Acids; Carnitine; Dried Blood Spot Testing; Female; Gestational Age; Humans; Infant, Newborn; | 2013 |
Matrix-assisted laser desorption/ionization for simultaneous quantitation of (acyl-)carnitines and organic acids in dried blood spots.
Topics: Carnitine; Dried Blood Spot Testing; Female; Humans; Infant, Newborn; Male; Mass Spectrometry; Metab | 2013 |
Separation and identification of underivatized plasma acylcarnitine isomers using liquid chromatography-tandem mass spectrometry for the differential diagnosis of organic acidemias and fatty acid oxidation defects.
Topics: Carnitine; Chromatography, High Pressure Liquid; Diagnosis, Differential; Fatty Acids; Humans; Isome | 2013 |
Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency.
Topics: Bezafibrate; Carnitine; Carnitine O-Palmitoyltransferase; Cell Differentiation; Cells, Cultured; Fib | 2014 |
Metabolic heritability at birth: implications for chronic disease research.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Adult; Carnitine; Chronic Disease; Female; Humans; | 2014 |
Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children.
Topics: Biomarkers; Carnitine; Child, Preschool; Chromatography, High Pressure Liquid; Egypt; Female; Humans | 2014 |
Newborn hypocarnitinemia due to long-term transplacental pivalic acid passage.
Topics: Carnitine; Female; Humans; Infant, Newborn; Male; Maternal-Fetal Exchange; Metabolism, Inborn Errors | 2014 |
Dynamic biological changes in metabolic disease biomarkers in childhood and adolescence: A CALIPER study of healthy community children.
Topics: Adolescent; Amino Acids; Biomarkers; Carnitine; Child; Child, Preschool; Cohort Studies; Female; Hea | 2015 |
Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.
Topics: Acetylcarnitine; Acidosis; Asian People; Asymptomatic Diseases; Carboxy-Lyases; Carnitine; Carrier P | 2015 |
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Topics: Adolescent; Adult; Amino Acids; Ammonia; Autism Spectrum Disorder; Blood Gas Analysis; Carnitine; Ch | 2016 |
Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy.
Topics: Cardiomyopathies; Carnitine; Child; Child, Preschool; Female; Humans; Hyperammonemia; Male; Metaboli | 2015 |
Biotin deprivation impairs mitochondrial structure and function and has implications for inherited metabolic disorders.
Topics: Animals; Biotin; Carbon-Nitrogen Ligases; Carnitine; Cells, Cultured; Citric Acid Cycle; Electron Tr | 2015 |
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 |
Lipolysis and lipophagy in lipid storage myopathies.
Topics: Adolescent; Adult; Aged; Autophagy; Cardiomyopathies; Carnitine; Carnitine O-Palmitoyltransferase; C | 2016 |
Round Table Discussion.
Topics: Adolescent; Autistic Disorder; Biomedical Research; Cardiomyopathies; Carnitine; Child; Congresses a | 2016 |
Newborn screening of inborn errors of metabolism by capillary electrophoresis-electrospray ionization-mass spectrometry: a second-tier method with improved specificity and sensitivity.
Topics: Adult; Amino Acids; Calibration; Carnitine; Electrophoresis, Capillary; Humans; Infant, Newborn; Mas | 2009 |
Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency.
Topics: Adult; Carnitine; Case-Control Studies; Child, Preschool; Consanguinity; Frameshift Mutation; Geneti | 2009 |
Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency.
Topics: Carnitine; Desiccation; Humans; Infant, Newborn; Linear Models; Metabolism, Inborn Errors; Neonatal | 2009 |
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Biomarkers; Carnitine; Cells, Cultured; Child | 2009 |
Novel mutation of early, perinatal-onset, myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl Coenzyme A; Acyl-CoA Dehydrogenase, Long-Chain; Age of Onset; Carnitine; DNA Mutational Analysi | 2009 |
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation.
Topics: Carnitine; Child; Child, Preschool; Female; Humans; Infant; Liver Transplantation; Male; Metabolism, | 2010 |
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Topics: Algorithms; Carnitine; Demography; False Positive Reactions; Female; Follow-Up Studies; Genetic Asso | 2010 |
Disorders of the carnitine cycle and detection by newborn screening.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neo | 2008 |
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Topics: Acyl-CoA Dehydrogenases; Carnitine; Fatty Acids; Female; Genotype; Humans; Infant, Newborn; Male; Me | 2010 |
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.
Topics: Adenylosuccinate Lyase; Adolescent; Adult; Aged; Carnitine; Child; Child, Preschool; Chromium; Cohor | 2010 |
Four years of expanded newborn screening in Portugal with tandem mass spectrometry.
Topics: Amino Acids; Biomarkers; Carnitine; Early Diagnosis; False Positive Reactions; Genetic Predispositio | 2010 |
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Blood Specimen Collection; Carnitine; Case-Control | 2010 |
Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Clinical Enzyme Tests; Humans; Infant, Newborn; Metab | 2010 |
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
Topics: Angiotensin-Converting Enzyme Inhibitors; Captopril; Carboxy-Lyases; Cardiomyopathies; Carnitine; Ch | 2010 |
Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples.
Topics: Adult; Amino Acids; Biomarkers; Blood Specimen Collection; Carnitine; False Negative Reactions; Fals | 2010 |
Post-mortem MRI reveals CPT2 deficiency after sudden infant death.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Cause of Death; Diagnosis; Fatty Liver; Hepatomegaly; H | 2010 |
Maternal isovaleric acidemia: observation of distinctive changes in plasma amino acids and carnitine profiles during pregnancy.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Carnitine; Female; Humans; Infant, Newborn; Isova | 2010 |
Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.
Topics: Adolescent; Adult; Carnitine; Carnitine O-Palmitoyltransferase; Child; Child, Preschool; Female; Gen | 2011 |
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Adolescent; Carnitine; Child; Child, Preschool; Cohort Studies; De | 2011 |
Setting up an emergency stock for metabolic diseases.
Topics: Acidosis; Amino Acids; Carnitine; Chelating Agents; Disease Management; Electronic Prescribing; Emer | 2010 |
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 |
Postnatal variations in blood free and acylcarnitines.
Topics: Carnitine; Female; Genetic Variation; Gestational Age; Humans; Infant, Newborn; Male; Metabolism, In | 2011 |
Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong.
Topics: Acids; Amino Acids; Carnitine; Hong Kong; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonat | 2011 |
Selective screening for inborn errors of metabolism--assessment of metabolites in body fluids.
Topics: Amino Acids; Body Fluids; Carnitine; Chemistry Techniques, Analytical; Early Diagnosis; Humans; Infa | 2011 |
Quantification of acylglycines in human urine by HPLC electrospray ionization-tandem mass spectrometry and the establishment of pediatric reference interval in local Chinese.
Topics: 1-Butanol; Acylation; Adolescent; Asian People; Calibration; Carnitine; Child; Child, Preschool; Chr | 2012 |
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
Topics: Autistic Disorder; Carnitine; Chromosomes, Human, X; Cognition; Exons; Gene Deletion; Genes, X-Linke | 2012 |
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Carnitine; Child, Preschool; Genetic Variation; Humans; Infant, Ne | 2012 |
A compendium of inborn errors of metabolism mapped onto the human metabolic network.
Topics: Acetyl Coenzyme A; Amino Acids; Brain; Carbohydrate Metabolism; Carnitine; Dried Blood Spot Testing; | 2012 |
A rapid UPLC-MS/MS method for simultaneous separation of 48 acylcarnitines in dried blood spots and plasma useful as a second-tier test for expanded newborn screening.
Topics: Calibration; Carnitine; Chromatography, Liquid; Dried Blood Spot Testing; Flow Injection Analysis; H | 2012 |
Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.
Topics: Alleles; Carboxy-Lyases; Cardiomyopathies; Carnitine; Chromosome Aberrations; Chromosome Deletion; C | 2012 |
Expanded newborn screening of inborn errors of metabolism by capillary electrophoresis-electrospray ionization-mass spectrometry (CE-ESI-MS).
Topics: Amino Acids; Carnitine; Dried Blood Spot Testing; Electrophoresis, Capillary; Humans; Infant, Newbor | 2013 |
Successful pregnancy in a woman with mut- methylmalonic acidaemia.
Topics: Adult; Carnitine; Female; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Pregnancy; Pregnanc | 2002 |
Practical management of combined methylmalonicaciduria and homocystinuria.
Topics: Adolescent; Adult; Betaine; Carnitine; Child; Child, Preschool; Female; Folic Acid; Gastrointestinal | 2002 |
Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Carnitine; Child; Chi | 2002 |
Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry.
Topics: Amino Acids; Carboxylic Acids; Carnitine; Humans; Mass Screening; Metabolism, Inborn Errors; Spectro | 2002 |
Acylcarnitine profiles of preterm infants over the first four weeks of life.
Topics: Carnitine; Gestational Age; Humans; Infant, Newborn; Infant, Premature; Metabolism, Inborn Errors; N | 2002 |
Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults.
Topics: Adolescent; Adult; Age Factors; Carnitine; Case-Control Studies; Child; Child, Preschool; Humans; In | 2003 |
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.
Topics: Butyryl-CoA Dehydrogenase; Carnitine; Cells, Cultured; Fibroblasts; Humans; Infant, Newborn; Mass Sp | 2003 |
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
Topics: Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carnitine; Cohort Studies | 2003 |
Effect of supplementation with L-carnitine at a small dose on acylcarnitine profiles in serum and urine and the renal handling of acylcarnitines in a patient with multiple acyl-coenzyme A dehydrogenation defect.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Humans; Infant, Newborn; Kidney; Male; Metabolism, Inborn Errors; | 2003 |
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
Topics: Acids; Carbon-Carbon Ligases; Carnitine; Female; Genetic Testing; Humans; Infant, Newborn; Lymphocyt | 2003 |
L-carnitine in inborn errors of metabolism: what is the evidence?
Topics: Acyl-CoA Dehydrogenase; Carnitine; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Propionate | 2003 |
Adult presentation of MCAD deficiency revealed by coma and severe arrythmias.
Topics: Acyl-CoA Dehydrogenase; Adult; Arrhythmias, Cardiac; Carnitine; Coma; Critical Care; Dicarboxylic Ac | 2003 |
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency?
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Carnitine; Child; Child, Preschool; Fatty Acids, Nonesterified; Fo | 2003 |
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry.
Topics: Acyl-CoA Dehydrogenase; Calibration; Carnitine; Chromatography, High Pressure Liquid; DNA; Humans; I | 2003 |
Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?
Topics: Acyl-CoA Dehydrogenase; Adenine; Carnitine; Diagnosis, Differential; Gene Frequency; Genotype; Guani | 2004 |
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China].
Topics: Adolescent; Amino Acids; Carnitine; Child; Child, Preschool; China; Female; Humans; Infant; Male; Ma | 2004 |
Medical devices; clinical chemistry and clinical toxicology devices; classification of newborn screening test systems for amino acids, free carnitine, and acylcarnitines using tandem mass spectrometry. Final rule.
Topics: Amino Acids; Carnitine; Chemistry, Clinical; Equipment Design; Equipment Safety; Humans; Infant, New | 2004 |
[Carnitine transporter deficiency in two Faeroese children].
Topics: Carnitine; Denmark; Fatal Outcome; Female; Humans; Infant; Male; Metabolism, Inborn Errors | 2004 |
Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Child; Child, Preschool; Chromosome Aberrations; Developmental Di | 2005 |
Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Adult; Carnitine; Case-Control Studies; DNA Mutational Analysis; F | 2005 |
Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry.
Topics: Amniotic Fluid; Carboxylic Acids; Carnitine; Female; Fetal Diseases; Gas Chromatography-Mass Spectro | 2005 |
Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.
Topics: Adipates; Carnitine; Child; Child, Preschool; Female; Humans; Infant; Male; Mass Spectrometry; Metab | 2005 |
Acidified acetonitrile and methanol extractions for quantitative analysis of acylcarnitines in plasma by stable isotope dilution tandem mass spectrometry.
Topics: Acetonitriles; Carnitine; Chemical Fractionation; Glutarates; Humans; Isotope Labeling; Mass Spectro | 2005 |
Prenatal and postnatal treatment in cobalamin C defect.
Topics: Betaine; Carnitine; Female; Folic Acid; Hematinics; Humans; Hydroxocobalamin; Infant, Newborn; Lipot | 2005 |
Biomarker discovery, disease classification, and similarity query processing on high-throughput MS/MS data of inborn errors of metabolism.
Topics: Acyl-CoA Dehydrogenase; Biomarkers; Carnitine; Case-Control Studies; Humans; Mass Spectrometry; Meta | 2006 |
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening.
Topics: Artifacts; Carnitine; Consanguinity; False Positive Reactions; Female; Glutamate Formimidoyltransfer | 2006 |
Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult.
Topics: Adolescent; Biopsy; Carbon-Carbon Ligases; Carnitine; Diagnosis, Differential; Female; Humans; Metab | 2005 |
Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Blood Glucose; Carnitine; Fasting; Glucose; Humans; Hypoglycemia | 2005 |
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Amino Acid Substitution; Blood Specimen Collection; Carnitine; D | 2006 |
So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Carnitine; DNA Mutational Analysis; Electron-Transferring Flavop | 2006 |
Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency.
Topics: Carnitine; DNA Mutational Analysis; Genotype; Heterozygote; Humans; Hydroxymethylglutaryl-CoA Syntha | 2006 |
Pericardial effusion in primary systemic carnitine deficiency.
Topics: Carnitine; Female; Humans; Infant; Metabolism, Inborn Errors; Mutation; Organic Cation Transport Pro | 2006 |
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Child, Preschool; Female; Genetic Carrier Screening; | 2006 |
Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants.
Topics: Adult; Carnitine; Consanguinity; Female; Fetal Blood; Humans; Infant, Newborn; Male; Mass Spectromet | 2006 |
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Carnitine; Child; Child, Preschool; Female; Genotype; Humans; In | 2006 |
Genetic mutation profile of isovaleric acidemia patients in Taiwan.
Topics: Adult; Carnitine; Child; Child, Preschool; Female; Hemiterpenes; Humans; Infant; Isovaleryl-CoA Dehy | 2007 |
Smelling like dead fish: a case of trimethylaminuria in an adolescent.
Topics: Adolescent; Anti-Infective Agents; Biomarkers; Carnitine; Choline; Creatinine; Humans; Male; Metabol | 2006 |
Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?
Topics: Acyl-CoA Dehydrogenase; Carnitine; Diagnostic Errors; Electron-Transferring Flavoproteins; Heterozyg | 2006 |
Tandem mass neonatal screening in Taiwan--report from one center.
Topics: Amino Acids; Carnitine; Female; Humans; Infant, Newborn; Male; Mass Spectrometry; Metabolism, Inborn | 2006 |
Increased lipolysis in LCHAD deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Dicarboxylic Acids; Diseases in Twins; Energy Metabol | 2007 |
Long-term stability of amino acids and acylcarnitines in dried blood spots.
Topics: Amino Acids; Blood Specimen Collection; Carnitine; Humans; Infant, Newborn; Linear Models; Metabolis | 2007 |
Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry.
Topics: Adult; Carnitine; Child, Preschool; Female; Humans; Isomerism; Male; Metabolism, Inborn Errors; Meth | 2007 |
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 |
Prospective treatment in carnitine-acylcarnitine translocase deficiency.
Topics: Carnitine; Carnitine Acyltransferases; Dicarboxylic Acids; Diet, Fat-Restricted; Dietary Supplements | 2007 |
Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Algorithms; Artificial Intelligence; Biomarkers; Carnitine; Humans; Infant, | 2007 |
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Brain Diseases, Metabolic; Carnitine; Child; Child, Presc | 2007 |
Cystic renal dysplasia as a leading sign of inherited metabolic disease.
Topics: Abnormalities, Multiple; Acidosis; Carnitine; Carnitine O-Palmitoyltransferase; Fatal Outcome; Femal | 2007 |
Expanded newborn screening in Europe 2007.
Topics: Amino Acids; Carnitine; Europe; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screeni | 2007 |
Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.
Topics: Amino-Acid N-Acetyltransferase; Benzoic Acid; Carnitine; Child, Preschool; Dietary Supplements; Fata | 2007 |
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 |
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
Topics: Adolescent; Carnitine; Carrier Proteins; Child; Cysteine; Diagnosis, Differential; DNA Mutational An | 2007 |
Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia.
Topics: Anemia, Iron-Deficiency; Cardiomyopathies; Carnitine; Humans; Infant; Male; Metabolism, Inborn Error | 2008 |
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
Topics: Carbon-Carbon Ligases; Carnitine; Delphi Technique; Energy Intake; Humans; Infant, Newborn; Leucine; | 2008 |
Subacute presentation of propionic acidemia.
Topics: Acidosis; Amino Acids; Biotin; Brain; Carnitine; Diagnosis, Differential; Diet, Protein-Restricted; | 2007 |
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies.
Topics: Adult; Butyryl-CoA Dehydrogenase; Carnitine; Chromatography, Gas; Humans; Magnetic Resonance Spectro | 2007 |
Acylcarnitine profile analysis.
Topics: Biomarkers; Carnitine; Genes, Recessive; Genetics, Medical; Humans; Metabolism, Inborn Errors; Preva | 2008 |
Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD.
Topics: Actins; Animals; Butyryl-CoA Dehydrogenase; Carnitine; Cytomegalovirus; Dependovirus; Genetic Therap | 2008 |
Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin.
Topics: Biopsy; Carnitine; Fatty Acid Desaturases; Glutarates; Humans; Hypoglycemia; Infant; Insulin; Male; | 1984 |
The differential diagnosis of dicarboxylic aciduria.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Adolescent; Carnitine; Child; Child, Preschool; Dia | 1984 |
Carnitine metabolism and inborn errors.
Topics: Carnitine; Child; Female; Humans; Male; Metabolism, Inborn Errors; Muscles; Syndrome | 1984 |
Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation.
Topics: Adolescent; Adult; Carnitine; Female; Humans; Lipid Metabolism, Inborn Errors; Male; Metabolism, Inb | 1984 |
[Medium chain acyl-CoA dehydrogenase deficiency. Apropos of a case with demonstration of this enzyme deficiency].
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Carnitine; Cells, Cultured; Coma; Diagnosis, Differ | 1984 |
Renal handling of free and acylcarnitine in secondary carnitine deficiency.
Topics: Adolescent; Carnitine; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Kidney; Mal | 1984 |
[Diagnostic significance of muscle biopsies in metabolic myopathies. II. Clinical biochemistry].
Topics: Adult; Biopsy; Carnitine; Diagnosis, Differential; Electrophoresis, Polyacrylamide Gel; Glycogen Sto | 1984 |
Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet.
Topics: Cardiomyopathies; Carnitine; Dietary Fats; Diseases in Twins; Female; Humans; Hypoglycemia; Infant; | 1983 |
Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.
Topics: Carnitine; Child, Preschool; Humans; Infant; Infant, Newborn; Malonates; Metabolism, Inborn Errors; | 1984 |
L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia.
Topics: Acyl Coenzyme A; Adolescent; Carboxy-Lyases; Carnitine; Child; Child, Preschool; Humans; Infant; Mal | 1984 |
["Metabolic" myocardiopathies in childhood (author's transl)].
Topics: Cardiomyopathies; Carnitine; Diabetes Mellitus; Echocardiography; Glycogen Storage Disease; Humans; | 1981 |
Pathology of inflammatory and metabolic myopathies.
Topics: AMP Deaminase; Carnitine; Carnitine O-Palmitoyltransferase; Glycogen Storage Disease; Humans; Lipido | 1981 |
Systemic carnitine deficiency.
Topics: Biological Transport; Carnitine; Diagnosis, Differential; Fatty Acids; Humans; Infant; Male; Metabol | 1981 |
Six years' experience with carnitine supplementation in a patient with an inherited defective carnitine transport system.
Topics: Biological Transport; Cardiomyopathies; Cardiotonic Agents; Carnitine; Cells, Cultured; Fibroblasts; | 1995 |
Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency.
Topics: Antioxidants; Carnitine; Cells, Cultured; Child, Preschool; Female; Fibroblasts; Humans; Male; Metab | 1995 |
Developmental deficiency of the cholinergic system in congenitally hyperammonemic spf mice: effect of acetyl-L-carnitine.
Topics: Acetylcarnitine; Acetylcholinesterase; Ammonia; Animals; Brain; Carnitine; Choline; Choline O-Acetyl | 1995 |
3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms.
Topics: Acetyl-CoA C-Acyltransferase; Brain; Carnitine; Child, Preschool; Electroencephalography; Female; Fi | 1994 |
Urinary propionylcarnitine analysis for monitoring carnitine supplementation in inherited disorders of propionate metabolism.
Topics: Adolescent; Carnitine; Child; Child, Preschool; Female; Humans; Infant; Male; Metabolism, Inborn Err | 1994 |
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency.
Topics: Biological Transport; Carnitine; Cells, Cultured; Child; Dose-Response Relationship, Drug; Fibroblas | 1993 |
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency.
Topics: Biological Transport; Carnitine; Cells, Cultured; Child; Dose-Response Relationship, Drug; Fibroblas | 1993 |
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency.
Topics: Biological Transport; Carnitine; Cells, Cultured; Child; Dose-Response Relationship, Drug; Fibroblas | 1993 |
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency.
Topics: Biological Transport; Carnitine; Cells, Cultured; Child; Dose-Response Relationship, Drug; Fibroblas | 1993 |
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency.
Topics: Biological Transport; Carnitine; Cells, Cultured; Child; Dose-Response Relationship, Drug; Fibroblas | 1993 |
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency.
Topics: Biological Transport; Carnitine; Cells, Cultured; Child; Dose-Response Relationship, Drug; Fibroblas | 1993 |
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency.
Topics: Biological Transport; Carnitine; Cells, Cultured; Child; Dose-Response Relationship, Drug; Fibroblas | 1993 |
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency.
Topics: Biological Transport; Carnitine; Cells, Cultured; Child; Dose-Response Relationship, Drug; Fibroblas | 1993 |
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency.
Topics: Biological Transport; Carnitine; Cells, Cultured; Child; Dose-Response Relationship, Drug; Fibroblas | 1993 |
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Cardiomyopathies; Carnitine; Female; Gastrointestinal Diseases; Hu | 1993 |
Solid-phase extraction technique for gas-chromatographic profiling of acylcarnitines.
Topics: Adult; Carnitine; Child; Chromatography, Gas; Humans; Infant; Metabolism, Inborn Errors; Regression | 1993 |
[What physicians ought to know about L-carnitine: basic considerations].
Topics: Adult; Carnitine; Heart Diseases; Humans; Infant; Metabolism, Inborn Errors | 1993 |
Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency.
Topics: Brain; Carnitine; Child, Preschool; Electron Transport; Female; Glutarates; Glutaryl-CoA Dehydrogena | 1995 |
Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter.
Topics: Cardiomyopathy, Dilated; Carnitine; Cell Membrane; Endocardial Fibroelastosis; Female; Fibroblasts; | 1996 |
Acylcarnitine removal in a patient with acyl-CoA beta-oxidation deficiency disorder: effect of L-carnitine therapy and starvation.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Carnitine; Fasting; Humans; Infant; Metabolism, Inb | 1996 |
The use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots.
Topics: Biliary Atresia; Carnitine; Child; Fatty Acid Desaturases; Humans; Infant, Newborn; Maple Syrup Urin | 1996 |
First prenatal diagnosis of the carnitine transporter defect.
Topics: Carnitine; Carnitine Acyltransferases; Chorionic Villi Sampling; Female; Fetal Diseases; Humans; Mal | 1996 |
Choline and L-carnitine as precursors of trimethylamine.
Topics: Animals; Carnitine; Child, Preschool; Choline; Female; Fishes; Humans; Magnetic Resonance Spectrosco | 1997 |
Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Age of Onset; Carnitine; Child; Diet; Fatty Acid Desaturases; Fe | 1997 |
Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles.
Topics: Algorithms; Amino Acids; Autoanalysis; Carnitine; Computers; Humans; Infant, Newborn; Mass Spectrome | 1997 |
The metabolic crisis: a diagnostic challenge [editoria; comment].
Topics: Acyl-CoA Dehydrogenase; Carnitine; Child; Deficiency Diseases; Energy Metabolism; Fatty Acid Desatur | 1997 |
[Study of plasma acylcarnitines using tandem mass spectrometry. Application to the diagnosis of metabolism hereditary diseases].
Topics: Acyl Coenzyme A; Acylation; Amniotic Fluid; Carnitine; Child; Fatty Acids; Female; Humans; Metabolis | 1997 |
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype.
Topics: Blood Glucose; Carnitine; Carnitine Acyltransferases; Humans; Infant, Newborn; Male; Metabolism, Inb | 1998 |
Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme.
Topics: Carnitine; False Positive Reactions; Female; Gas Chromatography-Mass Spectrometry; Hemiterpenes; Hum | 1998 |
Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene.
Topics: Amino Acid Sequence; Base Sequence; Biological Transport, Active; Carnitine; Carrier Proteins; Cell | 1998 |
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
Topics: Amino Acids; Biomarkers; Carnitine; Humans; Infant, Newborn; Mass Screening; Mass Spectrometry; Meta | 1999 |
Liver transplantation in propionic acidaemia.
Topics: Adolescent; Adult; Carboxy-Lyases; Carnitine; Child; Child, Preschool; Diet, Protein-Restricted; Fem | 1999 |
Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Esters; Fatty Acids; Humans; Male; Mass Spectrometry; M | 1999 |
Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids.
Topics: Amino Acids, Branched-Chain; Biological Transport; Carnitine; Carnitine Acyltransferases; Cells, Cul | 2000 |
Determination of urinary acylcarnitines: a complementary aid for the high-risk screening of several organic acidurias using a simple and reliable GC/MS-based method.
Topics: Carboxylic Acids; Carnitine; Gas Chromatography-Mass Spectrometry; Humans; Mass Screening; Mass Spec | 2000 |
Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease.
Topics: Acidosis; Age of Onset; Brain; Carnitine; Child; Consanguinity; Female; Glutarates; Humans; Infant; | 2000 |
Late-onset type II glutaric aciduria with massive pericardial effusion associated with severe fatty liver.
Topics: Carnitine; Fatty Liver; Glutarates; Humans; Infant; Male; Metabolism, Inborn Errors; Pericardial Eff | 2000 |
Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Cardiomegaly; Carnitine; Child; Fatty Liver; Heart Failure; Hepa | 2000 |
Therapy of metabolic disorders with intravenous (IV) access ports and long term intravenous L-carnitine therapy.
Topics: Carnitine; Catheters, Indwelling; Female; Humans; Infusions, Intravenous; Metabolism, Inborn Errors; | 1999 |
Design of a pilot study to evaluate tandem mass spectrometry for neonatal screening.
Topics: Amino Acids; Carnitine; Humans; Infant, Newborn; Mass Spectrometry; Metabolism, Inborn Errors; Neona | 1999 |
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death.
Topics: Autopsy; Bile; Blood Specimen Collection; Canada; Carnitine; Fatty Acids; Humans; Infant; Infant, Ne | 2001 |
More on the metabolic autopsy.
Topics: Amino Acids; Autopsy; Biopsy; Carnitine; Humans; Infant, Newborn; Metabolism, Inborn Errors; Skin; S | 2002 |
Letter: Inborn error of carnitine metabolism ("carnitine deficiency") in man.
Topics: Biopsy; Carnitine; Child; Humans; Male; Metabolism, Inborn Errors; Muscles | 1975 |
Oral treatment of carnitine myopathy.
Topics: Administration, Oral; Adolescent; Carnitine; Child; Follow-Up Studies; Humans; Male; Metabolism, Inb | 1977 |
Carnitine and diseases of skeletal muscle.
Topics: Adult; Carnitine; Carnitine O-Palmitoyltransferase; Dietary Carbohydrates; Humans; Male; Metabolism, | 1979 |
Identification of urinary acylcarnitines using gas chromatography-mass spectrometry: preliminary clinical applications.
Topics: Acylation; Carnitine; Gas Chromatography-Mass Spectrometry; Humans; Infant; Metabolism, Inborn Error | 1992 |
Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Blood Stains; Carnitine; Fatty Acids; Hu | 1992 |
Creatine metabolism during metabolic perturbations in patients with organic acidurias.
Topics: 3-Hydroxybutyric Acid; Carnitine; Child; Child, Preschool; Creatine; Creatinine; Female; Humans; Hyd | 1990 |
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acyl Coenzyme A; Carnitine; Cells, Cultured; Chromatography, High | 1991 |
Inherited metabolic diseases in the sudden infant death syndrome.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Carnitine; Child, Preschool; Female; Glycogen Stora | 1991 |
Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines.
Topics: Acylation; Adipates; Administration, Oral; Carnitine; Child; Electron-Transferring Flavoproteins; Fa | 1991 |
Management of a systemic carnitine deficiency.
Topics: Carnitine; Humans; Metabolism, Inborn Errors | 1991 |
Carnitine deficiency.
Topics: Carnitine; Humans; Infant; Metabolism, Inborn Errors; Methylmalonyl-CoA Mutase | 1990 |
Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: successful response to carnitine therapy.
Topics: Cardiomyopathies; Carnitine; Humans; Hydrops Fetalis; Infant, Newborn; Infant, Small for Gestational | 1990 |
Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism.
Topics: Carnitine; Humans; Infant, Newborn; Mass Spectrometry; Metabolism, Inborn Errors; Neonatal Screening | 1990 |
Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.
Topics: Carnitine; Cytochrome-c Oxidase Deficiency; DNA, Mitochondrial; Fatty Acid Desaturases; Female; Huma | 1990 |
Carnitine deficiency in inherited organic acid disorders and Reye syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Humans; Infant; Male; Metabolism, | 1990 |
A murine model for short-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Animals; Blotting, Western; Carnitine; Disease Mode | 1990 |
Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings.
Topics: Acid-Base Equilibrium; Acute Disease; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Age Factors; | 1990 |
Cardiomyopathy and abnormal carnitine metabolism.
Topics: Cardiomyopathy, Dilated; Carnitine; Child; Humans; Metabolism, Inborn Errors | 1989 |
Measurement of urinary free and acylcarnitines: quantitative acylcarnitine profiling in normal humans and in several patients with metabolic errors.
Topics: Acylation; Biomarkers; Carnitine; Deuterium; Humans; Mass Spectrometry; Metabolism, Inborn Errors; R | 1989 |
Metabolic studies of carnitine in a child with propionic acidemia.
Topics: Carnitine; Child; Humans; Liver; Male; Metabolism, Inborn Errors; Muscles; Propionates | 1989 |
Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells.
Topics: Adolescent; Adult; Biotin; Brain; Carnitine; Cells, Cultured; Child, Preschool; Coenzyme A; Cytochro | 1987 |
Post-mortem recognition of inherited metabolic disorders from specific acylcarnitines in tissue in cases of sudden infant death.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Fatty Acid Desaturases; Female; Humans; Infant; Infant, Newborn; | 1987 |
Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts.
Topics: Biological Transport; Carnitine; Cell Membrane; Child, Preschool; Female; Fibroblasts; Humans; Infan | 1988 |
Urinary acylcarnitines in a patient with neonatal multiple acyl-CoA dehydrogenation deficiency, quantified by a carboxylic acid analyzer with a reversed-phase column.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Chromatography; Fatty Acid Desaturases; Humans; Infant, Newborn; | 1988 |
[Carnitine deficiency].
Topics: Biological Transport; Carnitine; Fatty Acids; Humans; Metabolism, Inborn Errors; Muscular Diseases; | 1988 |
Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.
Topics: Acyl-CoA Dehydrogenase; Adipates; Carnitine; Fatty Acid Desaturases; Humans; Infant; Infant, Newborn | 1987 |
Disturbances in carnitine metabolism.
Topics: Acyl Coenzyme A; Carnitine; Humans; Metabolism, Inborn Errors | 1986 |
Systemic carnitine deficiency as the cause of a prolonged illness and sudden death in a six-year-old child.
Topics: Acids; Carnitine; Child; Death, Sudden; Diagnostic Errors; Female; Humans; Metabolism, Inborn Errors | 1985 |