carnitine has been researched along with Muscular Diseases in 344 studies
Muscular Diseases: Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Longitudinal assessments of carnitine and fatigue in patients with hepatocellular carcinoma suggest that lenvatinib affects the carnitine system in patients undergoing lenvatinib therapy and that carnitine insufficiency increases fatigue." | 9.34 | Carnitine insufficiency is associated with fatigue during lenvatinib treatment in patients with hepatocellular carcinoma. ( Ando, H; Ikejima, K; Ishizuka, K; Kitagawa, R; Kokubu, S; Miyazaki, A; Nagahara, A; Okubo, H; Okubo, S; Saito, H; Shiina, S, 2020) |
| "Patients with cystic acne (CA) on Isotretinoin (Iso) therapy might present muscular symptoms as side effect of the drug." | 9.09 | L-carnitine supplementation in patients with cystic acne on isotretinoin therapy. ( Georgala, C; Georgala, S; Michas, T; Schulpis, KH, 1999) |
| "Here, I present the effects of levocarnitine on renal anemia in hemodialysis patients with carnitine deficiency, focusing on the effect on dose reduction in erythropoiesis-stimulating agents and the influence on erythropoiesis resistance index." | 8.98 | Effects of Levocarnitine on Cardiac Function and Renal Anemia in Hemodialysis Patients. ( Higuchi, T, 2018) |
| "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) |
| "Carnitine deficiency is relatively common in epilepsy; risk factors reportedly include combination antiepileptic drug (AED) therapy with valproic acid (VPA), young age, intellectual disability, diet and enteral or parenteral feeding." | 7.81 | Carnitine deficiency: Risk factors and incidence in children with epilepsy. ( Fukuda, M; Ishii, E; Iwano, S; Kawabe, M; Kikuchi, C; Kuwabara, K; Morimoto, T; Suzuki, Y; Takehara, M; Wakamoto, H, 2015) |
| "Disorders of carnitine biosynthesis have recently been associated with neurodevelopmental syndromes such as autism spectrum disorder (ASD)." | 7.81 | Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. ( Beaudet, AL; Comeaux, MS; Elsea, SH; Scaglia, F; Schaaf, CP; Sun, Q; Yang, Y; Ziats, MN, 2015) |
| "Weakness is common in both hyper- and hypothyroidism, and skeletal muscle L-carnitine may play a role in this regard, as suggested by studies indicating abnormal levels of carnitine in serum and urine of patients with thyroid dysfunction." | 7.73 | Muscle carnitine in hypo- and hyperthyroidism. ( Gilchrist, JM; Hennessey, JV; Kandula, M; Sinclair, C, 2005) |
| "An infant with respiratory insufficiency, cardiomyopathy, lipid storage myopathy and low muscle carnitine was diagnosed as having 'Ondine's curse' because of recurrent nocturnal hypoventilation." | 7.70 | Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro. ( Angelini, C; Vergani, L, 1999) |
| "Understanding the consequences of cancer for energy metabolism is required in order to define strategies that both prevent and treat malnutrition." | 6.78 | Lower carnitine plasma values from malnutrition cancer patients. ( Demenice, R; dos Santos, JS; Jordão, AA; Leme, IA; Marchini, JS; Portari, GV; Rabito, EI, 2013) |
| "L-carnitine has also been shown to improve insulin sensitivity and elevate pyruvate dehydrogenase (PDH) flux." | 6.66 | The Importance of the Fatty Acid Transporter L-Carnitine in Non-Alcoholic Fatty Liver Disease (NAFLD). ( Hodson, L; Neubauer, S; Pavlides, M; Savic, D, 2020) |
| "Carnitine is a vitamin-like substance that regulates lipid metabolism and energy production." | 6.66 | Usefulness of Carnitine Supplementation for the Complications of Liver Cirrhosis. ( Hanai, T; Imai, K; Shimizu, M; Shiraki, M; Suetugu, A; Takai, K, 2020) |
| "L-Carnitine is an essential cofactor in transfer of long-chain fatty acids across the inner mitochondrial membrane." | 6.36 | Carnitine metabolism and deficiency syndromes. ( Engel, AG; Rebouche, CJ, 1983) |
| "Carnitine deficiency was significantly associated with increased intradialytic symptoms, including muscle spasms and hypotension." | 5.72 | Evaluation of the relationship between serum carnitine levels and intradialytic complications in children with kidney failure. ( Abbasi, A; Askarian, F; Bakhtiari Koohsorkhi, M; Bazargani, B; Fahimi, D; Moghtaderi, M; Mojtahedi, SY; Samimi, M, 2022) |
| "Non-ischemic dilated cardiomyopathy is the most common subgroup of heart failure in young adults." | 5.72 | Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients. ( Bayraktaroğlu, S; Canda, E; Kalkan Uçar, S; Kayıkçıoğlu, M; Özbay, B; Şimşek, E; Yağmur, B, 2022) |
| "No further seizures were noted by day 5." | 5.51 | A newborn with seizures born to a mother diagnosed with primary carnitine deficiency. ( Chen, S; Hu, Y; Huang, Y; Lin, J; Lin, Z; Nan, Y; Zhou, X, 2019) |
| "Carnitine is an essential cofactor for the transportation of long-chain fatty acids into the mitochondria." | 5.48 | SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management. ( Hu, CH; Hu, CW; Lo, LJ; Wu-Chou, YH, 2018) |
| "Rhabdomyolysis is an emergency requiring rapid diagnosis and suitable aetiological treatment." | 5.48 | Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis. ( Biancalana, V; Chanson, JB; Echaniz-Laguna, A; Gaignard, P, 2018) |
| "Acylcarnitine analysis was performed by tandem mass spectrometry on dried-blood spots collected on day 3 of life." | 5.46 | Similarities between acylcarnitine profiles in large for gestational age newborns and obesity. ( Couce, ML; de Castro, MJ; López, M; Rite, S; Roca, I; Sánchez-Pintos, P, 2017) |
| "Longitudinal assessments of carnitine and fatigue in patients with hepatocellular carcinoma suggest that lenvatinib affects the carnitine system in patients undergoing lenvatinib therapy and that carnitine insufficiency increases fatigue." | 5.34 | Carnitine insufficiency is associated with fatigue during lenvatinib treatment in patients with hepatocellular carcinoma. ( Ando, H; Ikejima, K; Ishizuka, K; Kitagawa, R; Kokubu, S; Miyazaki, A; Nagahara, A; Okubo, H; Okubo, S; Saito, H; Shiina, S, 2020) |
| "Carnitine was also moderately decreased in a liver biopsy and in plasma." | 5.27 | Myopathic carnitine deficiency associated with lymphocytic malignant non-Hodgkin lymphoma and monoclonal immunoglobulin G-K. ( Deufel, T; Jacob, K; Pongratz, D; Siegert, W; Wieland, OH, 1984) |
| "Patients with cystic acne (CA) on Isotretinoin (Iso) therapy might present muscular symptoms as side effect of the drug." | 5.09 | L-carnitine supplementation in patients with cystic acne on isotretinoin therapy. ( Georgala, C; Georgala, S; Michas, T; Schulpis, KH, 1999) |
| "Here, I present the effects of levocarnitine on renal anemia in hemodialysis patients with carnitine deficiency, focusing on the effect on dose reduction in erythropoiesis-stimulating agents and the influence on erythropoiesis resistance index." | 4.98 | Effects of Levocarnitine on Cardiac Function and Renal Anemia in Hemodialysis Patients. ( Higuchi, T, 2018) |
| "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) |
| "Carnitine deficiency is probably not a major cause of general fatigue but may occur in patients with CML receiving TKI therapy." | 4.12 | Relationship between Carnitine Deficiency and Tyrosine Kinase Inhibitor Use in Patients with Chronic Myeloid Leukemia. ( Hamada, T; Hatta, Y; Iizuka, K; Iriyama, N; Koike, T; Kurihara, K; Miura, K; Nakagawa, M; Nakamura, H; Nakayama, T; Takahashi, H; Takei, M; Uchino, Y, 2022) |
| "A 28-year-old Taiwanese woman presented with dyspnoea, poor appetite, and muscle weakness after using antiobesity drugs, including metformin, triiodothyronine, and topiramate." | 4.02 | Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency. ( Liang, WC; Liao, WA; Lin, PY; Sun, YT, 2021) |
| "Primary carnitine deficiency (PCD) affects fatty acid oxidation and is associated with cardiomyopathy and cardiac arrhythmia, but the risk of sudden death in PCD is unknown." | 3.96 | Increased risk of sudden death in untreated primary carnitine deficiency. ( Dunø, M; Hansen, SH; Joensen, HD; Køber, L; Lund, AM; Nielsen, OW; Rasmussen, J; Steuerwald, U, 2020) |
| " Investigations revealed non-ketotic hypoglycemia suggesting FAOD which was later confirmed as carnitine uptake defect with gas chromatography and mass spectrometry and mutation analysis." | 3.85 | Infant with hepatomegaly and hypoglycemia: A setting for fatty acid oxidation defects. ( Pai, G; Poddar, U; Ravindranath, A; Srivastava, A; Yachha, SK, 2017) |
| "Carnitine deficiency is relatively common in epilepsy; risk factors reportedly include combination antiepileptic drug (AED) therapy with valproic acid (VPA), young age, intellectual disability, diet and enteral or parenteral feeding." | 3.81 | Carnitine deficiency: Risk factors and incidence in children with epilepsy. ( Fukuda, M; Ishii, E; Iwano, S; Kawabe, M; Kikuchi, C; Kuwabara, K; Morimoto, T; Suzuki, Y; Takehara, M; Wakamoto, H, 2015) |
| "Disorders of carnitine biosynthesis have recently been associated with neurodevelopmental syndromes such as autism spectrum disorder (ASD)." | 3.81 | Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. ( Beaudet, AL; Comeaux, MS; Elsea, SH; Scaglia, F; Schaaf, CP; Sun, Q; Yang, Y; Ziats, MN, 2015) |
| "Carnitine deficiency can cause cardiomyopathy and cardiac arrhythmia." | 3.80 | Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening. ( Køber, L; Lund, AM; Nielsen, OW; Rasmussen, J, 2014) |
| "Exposure to antibiotics containing pivalic acid was associated with encephalopathy and progression to lethal cardiac arrhythmia in patients suffering from PCD." | 3.79 | Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events. ( Djurhuus, H; Køber, L; Lund, AM; Nielsen, OW; Rasmussen, J, 2013) |
| "We evaluated a 22-year-old woman with primary carnitine deficiency and ventricular fibrillation, as well as her first-degree relatives." | 3.77 | Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2. ( Bristow, M; Cohen, R; Colucci, W; Joseph, L; Klein, M; Mazzini, M; Monahan, K; Qin, F; Siwik, D; Tadros, T, 2011) |
| "Chronic, experimentally induced hypothyroidism resulted in substantial but subclinical phenotypic myopathic changes indicative of altered muscle energy metabolism and depletion of skeletal muscle carnitine." | 3.75 | Longitudinal study of the effects of chronic hypothyroidism on skeletal muscle in dogs. ( Duncan, RB; Inzana, KD; Panciera, DL; Rossmeisl, JH; Shelton, GD, 2009) |
| "Weakness is common in both hyper- and hypothyroidism, and skeletal muscle L-carnitine may play a role in this regard, as suggested by studies indicating abnormal levels of carnitine in serum and urine of patients with thyroid dysfunction." | 3.73 | Muscle carnitine in hypo- and hyperthyroidism. ( Gilchrist, JM; Hennessey, JV; Kandula, M; Sinclair, C, 2005) |
| "An infant with respiratory insufficiency, cardiomyopathy, lipid storage myopathy and low muscle carnitine was diagnosed as having 'Ondine's curse' because of recurrent nocturnal hypoventilation." | 3.70 | Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro. ( Angelini, C; Vergani, L, 1999) |
| "Effect of starvation or ACTH injection on the urinary level and profile of L-carnitine and its derivatives was studied in four healthy adult men or in a normal child and two patients with myopathy, respectively." | 3.66 | Urinary profile of L-carnitine and its derivatives in starved normal persons and ACTH injected patients with myopathy. ( Kinoshita, M; Suzuki, M; Tokuyama, K, 1983) |
| "There was no significant improvement in muscle spasms, although decreased muscle cramping after L-carnitine treatment was reported by 31% of patients who had undergone HD for >4 years." | 2.94 | Effects of L-Carnitine Supplementation in Patients Receiving Hemodialysis or Peritoneal Dialysis. ( Ichikawa, S; Io, H; Kanda, R; Kuwasawa-Iwasaki, M; Muto, M; Nakata, J; Nohara, N; Suzuki, Y; Tomino, Y; Wakabayashi, K, 2020) |
| "l-Carnitine treatment in asymptomatic patients with PCD may not only prevent cardiac complications but also boost skeletal muscle fat metabolism during exercise." | 2.87 | L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency. ( Hedermann, G; Lund, AM; Madsen, KL; Olesen, JH; Preisler, N; Rasmussen, J; Vissing, J, 2018) |
| "L-carnitine infusion appears safe in vasopressor-dependent septic shock." | 2.79 | Preliminary safety and efficacy of L-carnitine infusion for the treatment of vasopressor-dependent septic shock: a randomized control trial. ( Claremont, H; Jones, AE; Kline, JA; Krabill, V; Puskarich, MA, 2014) |
| "Understanding the consequences of cancer for energy metabolism is required in order to define strategies that both prevent and treat malnutrition." | 2.78 | Lower carnitine plasma values from malnutrition cancer patients. ( Demenice, R; dos Santos, JS; Jordão, AA; Leme, IA; Marchini, JS; Portari, GV; Rabito, EI, 2013) |
| "Carnitine is a vitamin-like substance that regulates lipid metabolism and energy production." | 2.66 | Usefulness of Carnitine Supplementation for the Complications of Liver Cirrhosis. ( Hanai, T; Imai, K; Shimizu, M; Shiraki, M; Suetugu, A; Takai, K, 2020) |
| "L-carnitine has also been shown to improve insulin sensitivity and elevate pyruvate dehydrogenase (PDH) flux." | 2.66 | The Importance of the Fatty Acid Transporter L-Carnitine in Non-Alcoholic Fatty Liver Disease (NAFLD). ( Hodson, L; Neubauer, S; Pavlides, M; Savic, D, 2020) |
| "VPA is widely used for the treatment of generalized epilepsy." | 2.61 | [Valproic acid-induced hyperammonemic encephalopathy in a patient receiving valproic acid monotherapy]. ( Araki, M; Mukai, T; Naka, H; Shishido, T; Tokinobu, H; Yamada, H, 2019) |
| "Carnitine deficiency is a common condition in hemodialysis patients." | 2.61 | Carnitine Profile by Tandem Mass Spectrometry and Dialysis Patients. ( Hanafusa, N; Kamei, D; Kamei, Y; Mineshima, M; Miwa, N; Nitta, K; Tanaka, N; Tsuchiya, K; Tsukada, M, 2019) |
| " For example, high dosage l-carnitine is an effective intervention for patients with Primary Carnitine Deficiency (PCD)." | 2.58 | Lipid storage myopathies: Current treatments and future directions. ( Little, DG; Schindeler, A; Summers, MA; Vasiljevski, ER, 2018) |
| "l-Carnitine is a wáter-soluble compound that humans may obtain both by food ingestion and endogenous synthesis from trimethyl-lysine." | 2.55 | Significance of l-carnitine for human health. ( Adeva-Andany, MM; Calvo-Castro, I; Donapetry-García, C; Fernández-Fernández, C; Pedre-Piñeiro, AM, 2017) |
| "Carnitine deficiency has been reported to cause erythropoietin refractory anemia in chronic hemodialysis patients and thrombocytopenia or leukopenia of cirrhosis, and carnitine supplementation can improve hematopoiesis in patients with hepatic or renal failure." | 2.53 | [Correlation between serum L-carnitine concentration and neutrophil engraftment in patients treated with cord blood transplantation]. ( Hayashi, K; Hyo, R; Kondo, T; Koresawa, R; Matsuhashi, Y; Sano, F; Sugihara, T; Susuki, S; Tasaka, T; Wada, H, 2016) |
| "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) |
| "Carnitine is a hydrophilic quaternary amine that plays a number of essential roles in metabolism with the main function being the transport of long-chain fatty acids from the cytosol to the mitochondrial matrix for β-oxidation." | 2.52 | Disorders of carnitine biosynthesis and transport. ( El-Hattab, AW; Scaglia, F, 2015) |
| "Not surprisingly, a group of muscle disorders due to defects in this system usually leads to the development of acute rhabdomyolysis in conditions such as infection, fasting and prolonged exercise." | 2.46 | State of the art in muscle lipid diseases. ( Liang, WC; Nishino, I, 2010) |
| " The clinical effectiveness of AZT is constrained due to its association with increased adverse effects, such as myopathy." | 2.44 | Mechanisms of zidovudine-induced mitochondrial toxicity and myopathy. ( Dirks Naylor, AJ; Scruggs, ER, 2008) |
| "Metabolic myopathies are disorders of muscle energy production that result in skeletal muscle dysfunction." | 2.39 | Metabolic myopathies. ( Barohn, R; Haller, RG; Martin, A, 1994) |
| "Mitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria." | 2.37 | Mitochondrial myopathies. ( Bonilla, E; DeVivo, DC; DiMauro, S; Nakagawa, M; Zeviani, M, 1985) |
| "Carnitine therapy has been effective in the treatment of the myopathic and some cases of systemic and mixed forms." | 2.37 | Carnitine deficiency. ( Gilbert, EF, 1985) |
| "Carnitine has a critical role in energy metabolism." | 2.36 | Carnitine. ( Borum, PR, 1983) |
| "L-Carnitine is an essential cofactor in transfer of long-chain fatty acids across the inner mitochondrial membrane." | 2.36 | Carnitine metabolism and deficiency syndromes. ( Engel, AG; Rebouche, CJ, 1983) |
| "Non-ischemic dilated cardiomyopathy is the most common subgroup of heart failure in young adults." | 1.72 | Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients. ( Bayraktaroğlu, S; Canda, E; Kalkan Uçar, S; Kayıkçıoğlu, M; Özbay, B; Şimşek, E; Yağmur, B, 2022) |
| "Carnitine deficiency was significantly associated with increased intradialytic symptoms, including muscle spasms and hypotension." | 1.72 | Evaluation of the relationship between serum carnitine levels and intradialytic complications in children with kidney failure. ( Abbasi, A; Askarian, F; Bakhtiari Koohsorkhi, M; Bazargani, B; Fahimi, D; Moghtaderi, M; Mojtahedi, SY; Samimi, M, 2022) |
| "L-carnitine was taken by the patient until the morning of surgery." | 1.62 | General anesthesia with cisatracurium and sevoflurane for a patient with primary carnitine deficiency receiving L-carnitine therapy: A case report. ( Ai, L; Fang, Y, 2021) |
| "Carnitine is a potent endogenous antioxidant and cellular fatty acid transporter for antioxidative stress and energy production in the cardiovascular system." | 1.62 | Role of carnitine in regulation of blood pressure (MAP/SBP) and gene expression of cardiac hypertrophy markers (α/β-MHC) during insulin-induced hypoglycaemia: Role of oxidative stress. ( Al-Harbi, NO; Alanazi, MM; Alanazi, WA; Alasmari, AF; Alasmari, F; Alhoshani, A; Ali, N; Ansari, MA; Imam, F, 2021) |
| "No further seizures were noted by day 5." | 1.51 | A newborn with seizures born to a mother diagnosed with primary carnitine deficiency. ( Chen, S; Hu, Y; Huang, Y; Lin, J; Lin, Z; Nan, Y; Zhou, X, 2019) |
| "Mitochondrial myopathies are a heterogeneous group of disorders associated with a wide range of clinical phenotypes." | 1.51 | Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile. ( Hedberg-Oldfors, C; Kollberg, G; Lindgren, U; Oldfors, A; Roos, S; Sofou, K; Thomsen, C; Tulinius, M, 2019) |
| "Rhabdomyolysis is an emergency requiring rapid diagnosis and suitable aetiological treatment." | 1.48 | Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis. ( Biancalana, V; Chanson, JB; Echaniz-Laguna, A; Gaignard, P, 2018) |
| "Carnitine is an essential cofactor for the transportation of long-chain fatty acids into the mitochondria." | 1.48 | SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management. ( Hu, CH; Hu, CW; Lo, LJ; Wu-Chou, YH, 2018) |
| "Acylcarnitine analysis was performed by tandem mass spectrometry on dried-blood spots collected on day 3 of life." | 1.46 | Similarities between acylcarnitine profiles in large for gestational age newborns and obesity. ( Couce, ML; de Castro, MJ; López, M; Rite, S; Roca, I; Sánchez-Pintos, P, 2017) |
| "Carnitine transport was reduced to 20% or less of normal in fibroblasts of 140 out of 358 subjects." | 1.46 | Functional and molecular studies in primary carnitine deficiency. ( Balakrishnan, B; Calderon, FRO; Frigeni, M; Longo, N; Mao, R; Pasquali, M; Yin, X, 2017) |
| " There were also increases in plasma 2HG in CER-treated rats on Days 8 and 11 and in TMPD-treated rats at 24 hr after dosing and increases in plasma hexanoylcarnitine in CER-treated rats on Day 11 and in TMPD-treated rats at 6 and 24 hr after dosing." | 1.46 | Plasma 2-hydroxyglutarate and hexanoylcarnitine levels are potential biomarkers for skeletal muscle toxicity in male Fischer 344 rats. ( Asai, F; Kobayashi, N; Nezu, Y; Obayashi, H; Shirai, M; Yamoto, T, 2017) |
| "Carnitine deficiency was induced in Wistar rats by adding 20 mmol/L of sodium pivalate to drinking water (P)." | 1.43 | A Moderate Carnitine Deficiency Exacerbates Isoproterenol-Induced Myocardial Injury in Rats. ( Arduini, A; Bonomini, M; Giudice, PL, 2016) |
| "Rhabdomyolysis was diagnosed based on the marked elevation of serum creatine kinase and myoglobinuria." | 1.42 | A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis. ( Furuyama, H; Hisahara, S; Imai, T; Matsushita, T; Shigematsu, Y; Shimohama, S; Tajima, G, 2015) |
| "Sivelestat was given for the complication of ARDS." | 1.42 | Elevation of pivaloylcarnitine by sivelestat sodium in two children. ( Bo, R; Hasegawa, Y; Ishige, N; Kobayashi, H; Nakamura, M; Takahashi, T; Yamada, K; Yamaguchi, S, 2015) |
| "Late-onset glutaric aciduria type II has been described recently as a rare but treatable cause of proximal myopathy in teenagers and adults." | 1.42 | Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager. ( Hussain, S; Prasad, M, 2015) |
| "Myopathies are chronic degenerative pathologies that induce the deterioration of the structure and function of skeletal muscle." | 1.40 | Creatine, L-carnitine, and ω3 polyunsaturated fatty acid supplementation from healthy to diseased skeletal muscle. ( Aquilani, R; D'Antona, G; Daglia, M; Di Lorenzo, A; Micheletti, P; Nabavi, SM; Nisoli, E; Rondanelli, M, 2014) |
| "Childhood cancer survivors are at high risk of developing congestive heart failure (CHF) compared with the general population, and there is a dose-dependent increase in CHF risk by anthracycline dose." | 1.40 | Carnitine and cardiac dysfunction in childhood cancer survivors treated with anthracyclines. ( Armenian, SH; Bhatia, S; Freyer, DR; Gelehrter, SK; Herrera, C; Landier, W; Mascarenhas, L; Menteer, JD; Reichman, L; Vase, T; Venkataraman, K; Venkatramani, R; Wilson, KD, 2014) |
| "Carnitine levels were positively correlated to age in both males and females (p < 0." | 1.40 | Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands. ( Duno, M; Gislason, H; Janzen, N; Køber, L; Lund, AM; Nielsen, OW; Rasmussen, J; Steuerwald, U, 2014) |
| "Carnitine transport was significantly reduced in fibroblasts obtained from all patients with primary carnitine deficiency, but was significantly higher in the asymptomatic women's than in the symptomatic patients' fibroblasts (P < 0." | 1.38 | Genotype-phenotype correlation in primary carnitine deficiency. ( Ardon, O; di San Filippo, CA; Longo, N; Ndukwe Erlingsson, UC; Pasquali, M; Rose, EC, 2012) |
| "Riboflavin and carnitine treatment corrected the metabolic abnormalities and she improved clinically." | 1.28 | Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult. ( Bell, RB; Brownell, AK; Engel, AG; Frerman, FE; Goodman, SI; Roe, CR; Seccombe, DW; Snyder, FF, 1990) |
| "A diagnosis of infantile Pompe's disease (glycogenosis type II) was made by muscle biopsy on a 6-month-old infant boy seen with hypotonia, weakness, and developmental regression." | 1.28 | Infantile Pompe's disease, lipid storage, and partial carnitine deficiency. ( Verity, MA, 1991) |
| "Pivampicillin can cause carnitine deficiency due to the pivalic acid side group." | 1.28 | Carnitine deficiency associated with long-term pivampicillin treatment: the effect of a replacement therapy regime. ( Betteridge, DJ; Cooper, MB; Patel, S; Payne, JE; Rose, SJ; Stokes, TC, 1992) |
| "Mitochondrial myopathies are a clinical condition characterized by muscle weakness and fatigue in which the primary defect is localized at the level of the mitochondria." | 1.27 | Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation. ( Byrne, E; Clark, JB; Hayes, DJ; Morgan-Hughes, JA, 1984) |
| "Carnitine concentration was decreased in serum and in muscle as well." | 1.27 | A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency. ( Fischer, JC; Jaspar, HH; Ruitenbeek, W; Sengers, RC; Stadhouders, AM; ter Laak, HJ; Trijbels, JM, 1983) |
| "The carnitine concentration was diminished in blood and muscle tissue." | 1.27 | Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity. ( Guggenbichler, JP; Ruitenbeek, W; Sengers, RC; Sperl, W; Stadhouders, AM; Trijbels, JM, 1988) |
| "Carnitine was also moderately decreased in a liver biopsy and in plasma." | 1.27 | Myopathic carnitine deficiency associated with lymphocytic malignant non-Hodgkin lymphoma and monoclonal immunoglobulin G-K. ( Deufel, T; Jacob, K; Pongratz, D; Siegert, W; Wieland, OH, 1984) |
| "Carnitine was decreased in the skeletal muscles and the serum." | 1.27 | Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. ( Hirata, K; Hirose, F; Kato, H; Matsuishi, T; Nonaka, I; Ohta, K; Ohtaki, E; Sugiyama, N; Terasawa, K; Yoshino, M, 1985) |
| "Carnitine therapy was ineffective and carnitine failed to correct the impaired fatty acid oxidation in muscle homogenates, in contrast to a previous case." | 1.26 | Muscle carnitine deficiency. Genetic heterogeneity. ( DiMauro, S; Eastwood, A; Hays, A; Lovelace, R; Roohi, F; Willner, J, 1979) |
| "Carnitine deficiency was found in skeletal muscle." | 1.26 | Carnitine deficiency of skeletal muscle: report of a treated case. ( Angelini, C; Cantarutti, F; Lücke, S, 1976) |
| "Carnitine content was markedly reduced in muscle and moderately in plasma." | 1.26 | "Carnitine deficient" myopathy and cardiomyopathy with fatal outcome. ( Cornelio, F; Di Donato, S; Gori, G; Mora, M; Peluchetti, D; Rimoldi, M; Testa, D, 1980) |
| "Carnitine is a carrier for the transport of long-chain fatty acids from the cytoplasmic to the mitochondrial space." | 1.26 | [Carnitine deficiency myopathy (author's transl)]. ( Engel, AG; Imbach, P; Jerusalem, F; Lämmli, J; Sengupta, C, 1980) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 114 (33.14) | 18.7374 |
| 1990's | 32 (9.30) | 18.2507 |
| 2000's | 20 (5.81) | 29.6817 |
| 2010's | 129 (37.50) | 24.3611 |
| 2020's | 49 (14.24) | 2.80 |
| Authors | Studies |
|---|---|
| Ai, L | 1 |
| Fang, Y | 1 |
| Ziats, CA | 1 |
| Burns, WB | 1 |
| Tedder, ML | 1 |
| Pollard, L | 1 |
| Wood, T | 1 |
| Champaigne, NL | 1 |
| Geng, G | 1 |
| Yang, Q | 1 |
| Fan, X | 1 |
| Lin, C | 4 |
| Wu, L | 3 |
| Chen, S | 3 |
| Luo, J | 1 |
| Iriyama, N | 1 |
| Miura, K | 1 |
| Uchino, Y | 1 |
| Takahashi, H | 1 |
| Nakagawa, M | 2 |
| Iizuka, K | 1 |
| Hamada, T | 1 |
| Koike, T | 1 |
| Kurihara, K | 1 |
| Nakayama, T | 1 |
| Takei, M | 1 |
| Hatta, Y | 1 |
| Nakamura, H | 1 |
| Lin, Y | 7 |
| Lin, B | 1 |
| Chen, Y | 4 |
| Zheng, Z | 5 |
| Fu, Q | 5 |
| Lin, W | 5 |
| Zhang, W | 4 |
| Crefcoeur, LL | 2 |
| Visser, G | 4 |
| Ferdinandusse, S | 4 |
| Wijburg, FA | 3 |
| Langeveld, M | 3 |
| Sjouke, B | 1 |
| Matsufuji, S | 1 |
| Shoji, T | 1 |
| Lee, S | 1 |
| Yamaguchi, M | 1 |
| Nishimura, M | 1 |
| Tsujimoto, Y | 1 |
| Nakatani, S | 1 |
| Morioka, T | 1 |
| Mori, K | 1 |
| Emoto, M | 1 |
| Bazargani, B | 1 |
| Mojtahedi, SY | 1 |
| Fahimi, D | 1 |
| Askarian, F | 1 |
| Moghtaderi, M | 1 |
| Abbasi, A | 1 |
| Samimi, M | 1 |
| Bakhtiari Koohsorkhi, M | 1 |
| Kirmse, B | 1 |
| Hobbs, C | 1 |
| Aaron, L | 1 |
| Montepiedra, G | 1 |
| Summar, M | 1 |
| Williams, PL | 1 |
| Smith, CJ | 1 |
| Van Dyke, R | 1 |
| Yu, C | 2 |
| Ryckman, KK | 1 |
| Borkowsky, W | 1 |
| Jing, Z | 1 |
| Okubo, H | 2 |
| Morishige, JI | 1 |
| Xu, P | 1 |
| Hasan, N | 1 |
| Nagata, N | 1 |
| Ando, H | 3 |
| Yildiz, D | 1 |
| Yazici, MU | 1 |
| Oguz, MM | 1 |
| Torun, EG | 1 |
| Sezer, A | 1 |
| Kiliç, M | 1 |
| Jain, S | 1 |
| Kumar, K | 1 |
| Malhotra, S | 1 |
| Sibal, A | 1 |
| Renaud, B | 1 |
| Kruse, CJ | 1 |
| François, AC | 1 |
| Grund, L | 1 |
| Bunert, C | 2 |
| Brisson, L | 1 |
| Boemer, F | 4 |
| Gault, G | 1 |
| Ghislain, B | 1 |
| Petitjean, T | 1 |
| Gustin, P | 1 |
| Votion, DM | 5 |
| Mattman, A | 1 |
| Masoudi, R | 1 |
| Stockler-Ipsiroglu, S | 1 |
| Zivkovic, I | 1 |
| Lehman, A | 1 |
| Dionne, JM | 1 |
| Ambrose, A | 1 |
| Sheehan, M | 1 |
| Bahl, S | 1 |
| Athey, T | 1 |
| Ghai-Jain, S | 1 |
| Chan, A | 1 |
| Mercimek-Andrews, S | 1 |
| Jahn, P | 2 |
| Dobešová, D | 1 |
| Brumarová, R | 1 |
| Tóthová, K | 1 |
| Kopecká, A | 1 |
| Friedecký, D | 2 |
| Kayıkçıoğlu, M | 1 |
| Özbay, B | 1 |
| Yağmur, B | 1 |
| Canda, E | 1 |
| Bayraktaroğlu, S | 1 |
| Şimşek, E | 1 |
| Kalkan Uçar, S | 1 |
| Song, W | 1 |
| Ye, S | 1 |
| Zheng, L | 1 |
| van den Heuvel, LM | 1 |
| Kater-Kuipers, A | 1 |
| van Dijk, T | 1 |
| Henneman, L | 1 |
| Gélinas, R | 1 |
| Leach, E | 1 |
| Horvath, G | 1 |
| Laksman, Z | 1 |
| Almannai, M | 1 |
| Alfadhel, M | 1 |
| El-Hattab, AW | 2 |
| Kyhl, K | 1 |
| Róin, T | 1 |
| Lund, A | 1 |
| Vejlstrup, N | 1 |
| Madsen, PL | 1 |
| Engstrøm, T | 1 |
| Rasmussen, J | 6 |
| Han, J | 1 |
| Song, X | 1 |
| Lu, S | 1 |
| Ji, G | 1 |
| Xie, Y | 1 |
| Wu, H | 1 |
| Li, X | 3 |
| Ma, R | 1 |
| Liu, Y | 3 |
| Kang, L | 1 |
| He, R | 1 |
| Song, J | 2 |
| Ren, J | 1 |
| Li, Y | 3 |
| Huang, M | 1 |
| Men, J | 1 |
| Yang, Y | 4 |
| Zhu, X | 1 |
| Jia, C | 1 |
| Ni, M | 1 |
| Zhang, L | 1 |
| Zhao, D | 1 |
| Mühlhause, F | 1 |
| Tipold, A | 1 |
| Rohn, K | 1 |
| Lepori, V | 1 |
| Leeb, T | 1 |
| Sewell, AC | 1 |
| Kornberg, M | 1 |
| Ranea-Robles, P | 1 |
| van Vlies, N | 1 |
| Vaz, FM | 2 |
| Houten, SM | 2 |
| Verbeeten, KC | 1 |
| Lamhonwah, AM | 1 |
| Bulman, D | 1 |
| Faghfoury, H | 1 |
| Chakraborty, P | 2 |
| Tein, I | 1 |
| Geraghty, MT | 1 |
| Bleeker, JC | 1 |
| Clarke, K | 1 |
| de Haan, FH | 1 |
| Houtkooper, RH | 2 |
| IJlst, L | 2 |
| Kok, IL | 1 |
| van der Pol, WL | 1 |
| de Sain-van der Velden, MGM | 2 |
| Sibeijn-Kuiper, A | 1 |
| Takken, T | 1 |
| Wanders, RJA | 2 |
| van Weeghel, M | 1 |
| van der Woude, LH | 1 |
| Wüst, RCI | 1 |
| Cox, PJ | 1 |
| Jeneson, JAL | 1 |
| Knottnerus, SJG | 1 |
| Pras-Raves, ML | 1 |
| van der Ham, M | 1 |
| Schielen, PCJI | 1 |
| Ishizuka, K | 1 |
| Kitagawa, R | 1 |
| Okubo, S | 1 |
| Saito, H | 1 |
| Kokubu, S | 1 |
| Miyazaki, A | 1 |
| Ikejima, K | 1 |
| Shiina, S | 1 |
| Nagahara, A | 1 |
| Grünert, SC | 1 |
| Tucci, S | 2 |
| Schumann, A | 1 |
| Schwendt, M | 1 |
| Gramer, G | 1 |
| Hoffmann, GF | 2 |
| Erbel, M | 1 |
| Stiller, B | 1 |
| Spiekerkoetter, U | 2 |
| Xu, H | 1 |
| Zhou, D | 1 |
| Hu, Z | 1 |
| Zhang, C | 2 |
| Hu, L | 1 |
| Zhang, Y | 3 |
| Zhu, L | 1 |
| Lu, B | 1 |
| Zhang, T | 1 |
| Huang, X | 4 |
| Wang, S | 2 |
| Leng, J | 1 |
| Diao, C | 1 |
| Wang, Y | 3 |
| Zheng, R | 1 |
| Lu, CC | 1 |
| Chang, CW | 1 |
| Wu, YH | 1 |
| Lin, JC | 1 |
| Alhashem, A | 1 |
| Mohamed, S | 1 |
| Abdelraheem, M | 1 |
| AlGufaydi, B | 1 |
| Al-Aqeel, A | 1 |
| Hanai, T | 1 |
| Shiraki, M | 1 |
| Imai, K | 1 |
| Suetugu, A | 1 |
| Takai, K | 1 |
| Shimizu, M | 1 |
| Savic, D | 1 |
| Hodson, L | 1 |
| Neubauer, S | 1 |
| Pavlides, M | 1 |
| Chen, D | 4 |
| Li, M | 1 |
| Peng, W | 2 |
| Yahyaoui, R | 1 |
| Blasco-Alonso, J | 1 |
| Gonzalo-Marín, M | 1 |
| Benito, C | 1 |
| Serrano-Nieto, J | 1 |
| González-Gallego, I | 1 |
| Ruiz-Sala, P | 1 |
| Pérez, B | 1 |
| González-Lamuño, D | 1 |
| Zhuang, J | 1 |
| Kuwasawa-Iwasaki, M | 1 |
| Io, H | 1 |
| Muto, M | 1 |
| Ichikawa, S | 1 |
| Wakabayashi, K | 1 |
| Kanda, R | 1 |
| Nakata, J | 1 |
| Nohara, N | 1 |
| Tomino, Y | 1 |
| Suzuki, Y | 2 |
| Wang, K | 1 |
| Fu, C | 1 |
| Zhou, X | 3 |
| Teng, Y | 1 |
| Lin-Peng, S | 1 |
| Li, Z | 3 |
| Liang, D | 1 |
| Alanazi, WA | 1 |
| Al-Harbi, NO | 1 |
| Imam, F | 1 |
| Ansari, MA | 1 |
| Alhoshani, A | 1 |
| Alasmari, AF | 1 |
| Alasmari, F | 1 |
| Alanazi, MM | 1 |
| Ali, N | 1 |
| Kumagai, E | 1 |
| Hosohata, K | 1 |
| Furumachi, K | 1 |
| Takai, S | 1 |
| Lin, Q | 1 |
| Zeng, Y | 1 |
| Qiu, X | 1 |
| Liu, G | 1 |
| Zhu, W | 1 |
| Lin, PY | 1 |
| Liang, WC | 3 |
| Liao, WA | 1 |
| Sun, YT | 1 |
| Vasta, LM | 1 |
| Reynolds, SM | 1 |
| Sami, S | 1 |
| Schacht, JP | 1 |
| Emerick, JE | 1 |
| Parekh, DS | 1 |
| Vogt, KS | 1 |
| Huang, C | 1 |
| Chen, X | 1 |
| Sun, Y | 2 |
| Han, L | 2 |
| Vasiljevski, ER | 3 |
| Burns, J | 1 |
| Bray, P | 1 |
| Donlevy, G | 1 |
| Mudge, AJ | 1 |
| Jones, KJ | 1 |
| Summers, MA | 3 |
| Biggin, A | 1 |
| Munns, CF | 1 |
| McKay, MJ | 1 |
| Baldwin, JN | 1 |
| Little, DG | 3 |
| Schindeler, A | 3 |
| 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 |
| Gürbüz, BB | 1 |
| Yılmaz, DY | 1 |
| Özgül, RK | 1 |
| Koşukcu, C | 1 |
| Dursun, A | 1 |
| Sivri, HS | 1 |
| Coşkun, T | 1 |
| Tokatlı, A | 1 |
| Adeva-Andany, MM | 1 |
| Calvo-Castro, I | 1 |
| Fernández-Fernández, C | 1 |
| Donapetry-García, C | 1 |
| Pedre-Piñeiro, AM | 1 |
| Beaudet, AL | 2 |
| Gallant, NM | 1 |
| Leydiker, K | 1 |
| Wilnai, Y | 1 |
| Lee, C | 1 |
| Lorey, F | 2 |
| Feuchtbaum, L | 2 |
| Tang, H | 1 |
| Carter, J | 1 |
| Enns, GM | 1 |
| Packman, S | 1 |
| Lin, HJ | 1 |
| Wilcox, WR | 1 |
| Cederbaum, SD | 1 |
| Abdenur, JE | 2 |
| Obayashi, H | 1 |
| Kobayashi, N | 1 |
| Nezu, Y | 1 |
| Yamoto, T | 1 |
| Shirai, M | 1 |
| Asai, F | 1 |
| Wang, YY | 1 |
| Jiang, T | 1 |
| Fluegge, K | 1 |
| Frigeni, M | 1 |
| Balakrishnan, B | 1 |
| Yin, X | 1 |
| Calderon, FRO | 1 |
| Mao, R | 1 |
| Pasquali, M | 5 |
| Longo, N | 8 |
| Detilleux, J | 1 |
| Cello, C | 1 |
| Amory, H | 2 |
| Marcillaud-Pitel, C | 2 |
| Richard, E | 1 |
| van Galen, G | 2 |
| van Loon, G | 2 |
| Lefère, L | 1 |
| Zheng, J | 1 |
| Hong, F | 1 |
| Yang, J | 1 |
| Tong, F | 2 |
| Mao, H | 1 |
| Yang, R | 2 |
| Zhao, Z | 2 |
| Ravindranath, A | 1 |
| Pai, G | 1 |
| Srivastava, A | 1 |
| Poddar, U | 1 |
| Yachha, SK | 1 |
| Tan, JQ | 1 |
| Chen, DY | 1 |
| Li, ZT | 1 |
| Yan, TZ | 1 |
| Huang, JW | 1 |
| Cai, R | 2 |
| Rudolph, W | 1 |
| Remane, D | 1 |
| Wissenbach, DK | 1 |
| Klein, C | 1 |
| Barnewitz, D | 1 |
| Peters, FT | 1 |
| Sebők, Á | 1 |
| Pál, E | 1 |
| Molnár, GA | 1 |
| Wittmann, I | 2 |
| Berenténé Bene, J | 1 |
| Melegh, B | 4 |
| Komoly, S | 1 |
| Hidvégi, T | 1 |
| Balogh, L | 1 |
| Szabó, A | 1 |
| Zsidegh, P | 1 |
| Sánchez-Pintos, P | 2 |
| de Castro, MJ | 1 |
| Roca, I | 1 |
| Rite, S | 1 |
| López, M | 1 |
| Couce, ML | 2 |
| Perin, F | 1 |
| Rodríguez-Vázquez Del Rey, MDM | 1 |
| Carreras-Blesa, C | 1 |
| Arrabal-Fernández, L | 1 |
| Jiménez-Jáimez, J | 1 |
| Tercedor, L | 1 |
| Rupasinghe, T | 1 |
| Evesson, FJ | 1 |
| Mikulec, K | 1 |
| Peacock, L | 1 |
| Quinlan, KG | 1 |
| Cooper, ST | 1 |
| Roessner, U | 1 |
| Stevenson, DA | 1 |
| El-Gharbawy, A | 1 |
| Vockley, J | 2 |
| Ghalwash, M | 1 |
| Elmasry, A | 1 |
| El-Adeeb, N | 1 |
| Crooks, SA | 1 |
| Bech, S | 1 |
| Halling, J | 1 |
| Christiansen, DH | 1 |
| Ritz, B | 1 |
| Petersen, MS | 1 |
| Hu, CW | 1 |
| Hu, CH | 1 |
| Wu-Chou, YH | 1 |
| Lo, LJ | 1 |
| Langer, S | 1 |
| Müller, A | 1 |
| Ternes, K | 1 |
| Liesegang, A | 1 |
| Echaniz-Laguna, A | 1 |
| Biancalana, V | 1 |
| Gaignard, P | 1 |
| Chanson, JB | 1 |
| Salguero Olid, A | 1 |
| Blanco Sánchez, G | 1 |
| Alonso Ojembarrena, A | 1 |
| Tarasenko, TN | 1 |
| Cusmano-Ozog, K | 1 |
| McGuire, PJ | 1 |
| Higuchi, T | 2 |
| Kaneko, M | 1 |
| Fukasawa, H | 1 |
| Ishibuchi, K | 1 |
| Niwa, H | 1 |
| Yasuda, H | 1 |
| Furuya, R | 1 |
| Karlíková, R | 1 |
| Široká, J | 1 |
| Mech, M | 1 |
| Janečková, H | 1 |
| Mádrová, L | 1 |
| Hrdinová, F | 1 |
| Drábková, Z | 1 |
| Dobešová, O | 1 |
| Adam, T | 1 |
| Madsen, KL | 1 |
| Preisler, N | 1 |
| Hedermann, G | 1 |
| Olesen, JH | 1 |
| Lund, AM | 5 |
| Vissing, J | 1 |
| Roos, S | 1 |
| Sofou, K | 1 |
| Hedberg-Oldfors, C | 1 |
| Kollberg, G | 1 |
| Lindgren, U | 1 |
| Thomsen, C | 1 |
| Tulinius, M | 1 |
| Oldfors, A | 1 |
| Maruyama, T | 1 |
| Maruyama, N | 1 |
| Nagura, C | 1 |
| Takashima, H | 1 |
| Kitai, M | 1 |
| Utsunomiya, K | 1 |
| Tei, R | 1 |
| Furukawa, T | 1 |
| Yamazaki, T | 1 |
| Okawa, E | 1 |
| Kikuchi, F | 1 |
| Abe, M | 1 |
| Janeiro, P | 1 |
| Jotta, R | 1 |
| Ramos, R | 1 |
| Florindo, C | 1 |
| Ventura, FV | 1 |
| Vilarinho, L | 1 |
| Tavares de Almeida, I | 1 |
| Gaspar, A | 1 |
| Hu, Y | 1 |
| Huang, Y | 1 |
| Nan, Y | 1 |
| Lin, J | 1 |
| Lin, Z | 1 |
| Chen, T | 1 |
| Jiang, P | 1 |
| Shu, Q | 1 |
| Kamei, D | 1 |
| Kamei, Y | 1 |
| Tanaka, N | 1 |
| Tsukada, M | 1 |
| Miwa, N | 1 |
| Hanafusa, N | 1 |
| Mineshima, M | 1 |
| Nitta, K | 1 |
| Tsuchiya, K | 1 |
| Rovelli, V | 1 |
| Manzoni, F | 1 |
| Viau, K | 1 |
| Yamada, H | 1 |
| Shishido, T | 1 |
| Mukai, T | 1 |
| Araki, M | 1 |
| Naka, H | 1 |
| Tokinobu, H | 1 |
| Te Brinke, H | 2 |
| Ruiter, JPN | 1 |
| Haasjes, J | 1 |
| Oostheim, W | 1 |
| van Lenthe, H | 1 |
| Ebberink, MS | 1 |
| Waterham, HR | 2 |
| Ishige, M | 1 |
| Fuchigami, T | 1 |
| Furukawa, M | 1 |
| Kobayashi, H | 5 |
| Fujiki, R | 1 |
| Ogawa, E | 1 |
| Ishige, N | 2 |
| Sasai, H | 1 |
| Fukao, T | 2 |
| Hashimoto, K | 1 |
| Inamo, Y | 1 |
| Morioka, I | 1 |
| Hanai, S | 1 |
| Iwata, M | 1 |
| Terasawa, T | 1 |
| Tan, J | 1 |
| Yuan, D | 1 |
| Liu, B | 1 |
| Yan, T | 1 |
| Huang, J | 1 |
| Li, H | 1 |
| Liu, J | 1 |
| Yan, H | 1 |
| Liu, Q | 1 |
| Wei, X | 1 |
| Xi, H | 1 |
| Jia, Z | 1 |
| Wang, H | 1 |
| Dunø, M | 1 |
| Steuerwald, U | 2 |
| Hansen, SH | 1 |
| Joensen, HD | 1 |
| Køber, L | 4 |
| Nielsen, OW | 4 |
| Ascunce, RR | 1 |
| Nayar, AC | 1 |
| Phoon, CK | 1 |
| Srichai, MB | 1 |
| Ringseis, R | 1 |
| Keller, J | 1 |
| Eder, K | 1 |
| Chen, YC | 1 |
| Chien, YH | 1 |
| Chen, PW | 1 |
| Leung-Sang Tang, N | 1 |
| Chiu, PC | 1 |
| Hwu, WL | 1 |
| Lee, NC | 1 |
| Rabito, EI | 1 |
| Leme, IA | 1 |
| Demenice, R | 1 |
| Portari, GV | 1 |
| Jordão, AA | 1 |
| dos Santos, JS | 1 |
| Marchini, JS | 1 |
| Janzen, N | 1 |
| Duno, M | 1 |
| Gislason, H | 1 |
| Diogo, L | 1 |
| Leão-Teles, E | 1 |
| Martins, E | 1 |
| Santos, H | 1 |
| Bueno, MA | 1 |
| Delgado-Pecellín, C | 1 |
| Castiñeiras, DE | 1 |
| Cocho, JA | 1 |
| García-Villoria, J | 1 |
| Ribes, A | 1 |
| Fraga, JM | 1 |
| Rocha, H | 1 |
| Puskarich, MA | 1 |
| Kline, JA | 1 |
| Krabill, V | 1 |
| Claremont, H | 1 |
| Jones, AE | 1 |
| Ndukwe Erlingsson, UC | 2 |
| Iacobazzi, F | 1 |
| Liu, A | 1 |
| Ardon, O | 3 |
| Nouws, J | 1 |
| Nijtmans, LG | 1 |
| Prasad, M | 1 |
| Hussain, S | 1 |
| Bonafé, L | 2 |
| Berger, MM | 1 |
| Que, YA | 1 |
| Mechanick, JI | 1 |
| Merritt, JL | 1 |
| Vedal, S | 1 |
| Au, SM | 1 |
| Barshop, BA | 2 |
| Harding, CO | 1 |
| Hermerath, C | 1 |
| Sesser, DE | 1 |
| Thompson, JD | 1 |
| Yu, A | 1 |
| Armenian, SH | 2 |
| Gelehrter, SK | 1 |
| Vase, T | 1 |
| Venkatramani, R | 1 |
| Landier, W | 1 |
| Wilson, KD | 1 |
| Herrera, C | 1 |
| Reichman, L | 1 |
| Menteer, JD | 1 |
| Mascarenhas, L | 1 |
| Freyer, DR | 1 |
| Venkataraman, K | 1 |
| Bhatia, S | 1 |
| Wang, SS | 1 |
| Rao, J | 2 |
| Li, YF | 1 |
| Zhang, ZW | 1 |
| Zeng, GH | 1 |
| Wang, F | 1 |
| Ye, J | 2 |
| Qiu, W | 1 |
| Zhang, H | 1 |
| Gao, X | 1 |
| Gong, Z | 1 |
| Gu, X | 1 |
| Zeng, G | 1 |
| Zhang, Z | 1 |
| Cheng, C | 1 |
| Zhang, XY | 1 |
| Li, JJ | 1 |
| D'Antona, G | 1 |
| Nabavi, SM | 1 |
| Micheletti, P | 1 |
| Di Lorenzo, A | 1 |
| Aquilani, R | 1 |
| Nisoli, E | 1 |
| Rondanelli, M | 1 |
| Daglia, M | 1 |
| Fukuda, M | 1 |
| Kawabe, M | 1 |
| Takehara, M | 1 |
| Iwano, S | 1 |
| Kuwabara, K | 1 |
| Kikuchi, C | 1 |
| Wakamoto, H | 1 |
| Morimoto, T | 1 |
| Ishii, E | 1 |
| Ding, Y | 1 |
| Ma, Y | 1 |
| Wang, Q | 1 |
| Tenopoulou, M | 1 |
| Chen, J | 1 |
| Bastin, J | 1 |
| Bennett, MJ | 1 |
| Ischiropoulos, H | 1 |
| Doulias, PT | 1 |
| Endo, K | 1 |
| Tsuji, A | 1 |
| Kondo, S | 1 |
| Wakisaka, N | 1 |
| Murono, S | 1 |
| Yoshizaki, T | 1 |
| Hisahara, S | 1 |
| Matsushita, T | 1 |
| Furuyama, H | 1 |
| Tajima, G | 1 |
| Shigematsu, Y | 4 |
| Imai, T | 1 |
| Shimohama, S | 1 |
| Hitomi, T | 1 |
| Matsuura, N | 1 |
| Okano, Y | 1 |
| Shinozaki, E | 1 |
| Kawai, M | 1 |
| Harada, KH | 1 |
| Koizumi, A | 1 |
| Ziats, MN | 1 |
| Comeaux, MS | 1 |
| Scaglia, F | 2 |
| Elsea, SH | 3 |
| Sun, Q | 3 |
| Schaaf, CP | 1 |
| Yilmaz, BS | 1 |
| Kor, D | 1 |
| Mungan, NO | 1 |
| Erdem, S | 1 |
| Ceylaner, S | 1 |
| Roussel, J | 1 |
| Labarthe, F | 1 |
| Thireau, J | 1 |
| Ferro, F | 1 |
| Farah, C | 1 |
| Roy, J | 1 |
| Horiuchi, M | 2 |
| Tardieu, M | 1 |
| Lefort, B | 1 |
| François Benoist, J | 1 |
| Lacampagne, A | 1 |
| Richard, S | 1 |
| Fauconnier, J | 1 |
| Babuty, D | 1 |
| Le Guennec, JY | 1 |
| Mamedov, I | 1 |
| Zolkina, I | 1 |
| Nikolaeva, E | 1 |
| Glagovsky, P | 1 |
| Sukhorukov, V | 1 |
| Su, Y | 1 |
| Xie, J | 1 |
| Xu, Z | 1 |
| Wu, W | 1 |
| Geng, Q | 1 |
| Luo, F | 1 |
| Sgambat, K | 1 |
| Moudgil, A | 1 |
| Al-sharefi, A | 1 |
| Bilous, R | 1 |
| Bochnia, M | 1 |
| Ziegler, J | 1 |
| Sander, J | 1 |
| Uhlig, A | 1 |
| Schaefer, S | 1 |
| Vollstedt, S | 1 |
| Glatter, M | 1 |
| Abel, S | 1 |
| Recknagel, S | 1 |
| Schusser, GF | 1 |
| Wensch-Dorendorf, M | 1 |
| Zeyner, A | 1 |
| Miller, MJ | 2 |
| Burrage, LC | 2 |
| Gibson, JB | 1 |
| Strenk, ME | 1 |
| Lose, EJ | 1 |
| Bick, DP | 1 |
| Sutton, VR | 2 |
| Graham, BH | 2 |
| Craigen, WJ | 1 |
| Zhang, VW | 1 |
| Wong, LJ | 2 |
| Yamada, K | 3 |
| Bo, R | 2 |
| Takahashi, T | 3 |
| Purevsuren, J | 2 |
| Hasegawa, Y | 3 |
| Taketani, T | 1 |
| Fukuda, S | 2 |
| Ohkubo, T | 1 |
| Yokota, T | 1 |
| Watanabe, M | 1 |
| Tsunemi, T | 1 |
| Mizusawa, H | 1 |
| Takuma, H | 1 |
| Shioya, A | 1 |
| Ishii, A | 1 |
| Tamaoka, A | 1 |
| Sugie, H | 1 |
| Yamaguchi, S | 3 |
| Nakamura, M | 1 |
| Kennedy, AD | 1 |
| Ryder, B | 1 |
| Knoll, D | 1 |
| Love, DR | 1 |
| Shepherd, P | 1 |
| Love, JM | 1 |
| Reed, PW | 1 |
| de Hora, M | 1 |
| Webster, D | 1 |
| Glamuzina, E | 1 |
| Wilson, C | 1 |
| Giudice, PL | 1 |
| Bonomini, M | 1 |
| Arduini, A | 1 |
| Hisano, Y | 1 |
| Kaneto, H | 1 |
| Kimura, T | 1 |
| Ota, T | 1 |
| Kamao, T | 1 |
| Uno, M | 1 |
| Mizushima, T | 1 |
| Mune, T | 1 |
| Kaku, K | 1 |
| Sano, F | 1 |
| Kondo, T | 1 |
| Matsuhashi, Y | 1 |
| Hyo, R | 1 |
| Koresawa, R | 1 |
| Susuki, S | 1 |
| Hayashi, K | 1 |
| Tasaka, T | 1 |
| Wada, H | 1 |
| Sugihara, T | 1 |
| Fu, HX | 1 |
| Liu, XY | 1 |
| Wang, ZQ | 1 |
| Jin, M | 1 |
| Wang, DN | 1 |
| He, JJ | 1 |
| Lin, MT | 1 |
| Wang, N | 1 |
| Angelini, C | 8 |
| Nascimbeni, AC | 1 |
| Cenacchi, G | 1 |
| Tasca, E | 1 |
| Pena, LD | 1 |
| van Calcar, SC | 1 |
| Hansen, J | 1 |
| Edick, MJ | 1 |
| Walsh Vockley, C | 1 |
| Leslie, N | 1 |
| Cameron, C | 1 |
| Mohsen, AW | 1 |
| Berry, SA | 1 |
| Arnold, GL | 1 |
| Davies, M | 1 |
| Lemieux, H | 1 |
| Serteyn, D | 1 |
| Baise, E | 1 |
| Cassart, D | 1 |
| Deswal, S | 1 |
| Bijarnia-Mahay, S | 1 |
| Manocha, V | 1 |
| Hara, K | 1 |
| Saxena, R | 1 |
| Verma, IC | 1 |
| Papadopoulou-Legbelou, K | 1 |
| Gogou, M | 1 |
| Dokousli, V | 1 |
| Eboriadou, M | 1 |
| Evangeliou, A | 1 |
| Winter, S | 1 |
| Buist, NR | 3 |
| Lopaschuk, G | 1 |
| Wasilewska, A | 1 |
| Landau, YE | 1 |
| Waisbren, SE | 1 |
| Chan, LM | 1 |
| Levy, HL | 1 |
| Yu, K | 1 |
| Zheng, F | 1 |
| Bruno, C | 1 |
| Dimauro, S | 8 |
| Laforêt, P | 1 |
| Acquaviva-Bourdain, C | 1 |
| Rigal, O | 1 |
| Brivet, M | 1 |
| Penisson-Besnier, I | 1 |
| Chabrol, B | 1 |
| Chaigne, D | 1 |
| Boespflug-Tanguy, O | 1 |
| Laroche, C | 1 |
| Bedat-Millet, AL | 1 |
| Behin, A | 1 |
| Delevaux, I | 1 |
| Lombès, A | 1 |
| Andresen, BS | 2 |
| Eymard, B | 1 |
| Vianey-Saban, C | 1 |
| Rossmeisl, JH | 1 |
| Duncan, RB | 1 |
| Inzana, KD | 1 |
| Panciera, DL | 1 |
| Shelton, GD | 2 |
| Miao, J | 1 |
| Zhang, G | 1 |
| Liu, R | 1 |
| Zhang, D | 1 |
| Wan, Q | 1 |
| Yu, Y | 1 |
| Zhao, G | 1 |
| Nishino, I | 2 |
| Filippo, CA | 1 |
| Ushikai, M | 1 |
| Kobayashi, K | 1 |
| Matuda, S | 1 |
| Inui, A | 1 |
| Takeuchi, T | 1 |
| Saheki, T | 1 |
| McGoey, RR | 1 |
| Marble, M | 1 |
| Moustafa, AM | 1 |
| Boshra, V | 1 |
| Potter, BK | 1 |
| Little, J | 1 |
| Kronick, JB | 1 |
| Evans, J | 1 |
| Frei, J | 1 |
| Sutherland, SC | 1 |
| Wilson, K | 1 |
| Wilson, BJ | 1 |
| Rose, EC | 1 |
| di San Filippo, CA | 1 |
| Primassin, S | 1 |
| Mazzini, M | 1 |
| Tadros, T | 1 |
| Siwik, D | 1 |
| Joseph, L | 1 |
| Bristow, M | 1 |
| Qin, F | 1 |
| Cohen, R | 1 |
| Monahan, K | 1 |
| Klein, M | 1 |
| Colucci, W | 1 |
| Kishimoto, S | 1 |
| Suda, K | 1 |
| Yoshimoto, H | 1 |
| Teramachi, Y | 1 |
| Nishino, H | 1 |
| Koteda, Y | 1 |
| Itoh, S | 1 |
| Kudo, Y | 1 |
| Iemura, M | 1 |
| Matsuishi, T | 2 |
| Kim, H | 1 |
| Chu, K | 1 |
| Jung, KH | 1 |
| Lee, ST | 1 |
| Kim, JM | 1 |
| Lee, SK | 1 |
| Baragou, S | 1 |
| Pio, M | 1 |
| Di Bernardo, S | 1 |
| Ksontini, TB | 1 |
| Dommange, SJ | 1 |
| Meijboom, E | 1 |
| Sekarski, N | 1 |
| Răşanu, T | 1 |
| Mehedinţi-Hâncu, M | 1 |
| Alexianu, M | 1 |
| Mehedinţi, T | 1 |
| Gheorghe, E | 1 |
| Damian, I | 1 |
| Keeler, AM | 1 |
| Conlon, T | 1 |
| Walter, G | 1 |
| Zeng, H | 1 |
| Shaffer, SA | 1 |
| Dungtao, F | 1 |
| Erger, K | 1 |
| Cossette, T | 1 |
| Tang, Q | 1 |
| Mueller, C | 1 |
| Flotte, TR | 1 |
| Djurhuus, H | 1 |
| Agnetti, A | 1 |
| Bitton, L | 1 |
| Tchana, B | 1 |
| Raymond, A | 1 |
| Carano, N | 1 |
| Csiky, B | 1 |
| Bene, J | 2 |
| Sulyok, E | 1 |
| Han, LS | 1 |
| Qiu, WJ | 1 |
| Zhang, HW | 1 |
| Ji, WJ | 1 |
| Gao, XL | 1 |
| Li, XY | 1 |
| Jin, J | 1 |
| Gu, XF | 1 |
| Tamai, I | 1 |
| Kato, K | 1 |
| Mizota, T | 1 |
| Hirota, K | 1 |
| Fukuda, K | 1 |
| Yoon, YA | 1 |
| Lee, DH | 1 |
| Ki, CS | 1 |
| Lee, SY | 1 |
| Kim, JW | 1 |
| Lee, YW | 1 |
| Park, HD | 1 |
| Takayanagi, M | 1 |
| Sun, ZX | 1 |
| Lan, JH | 1 |
| Shibbani, K | 1 |
| Fahed, AC | 1 |
| Al-Shaar, L | 1 |
| Arabi, M | 1 |
| Nemer, G | 1 |
| Bitar, F | 1 |
| Majdalani, M | 1 |
| Rico Corral, MA | 1 |
| de la Vega Vázquez, JM | 1 |
| Holgado Silva, C | 1 |
| Aznar Martín, A | 1 |
| Zamora Madaría, E | 1 |
| Campistol, JM | 1 |
| Toma, E | 1 |
| Loignon, M | 1 |
| Karmaniolas, K | 1 |
| Ioannidis, P | 1 |
| Liatis, S | 1 |
| Dalamanga, M | 1 |
| Papalambros, T | 1 |
| Migdalis, I | 1 |
| FRAENKEL, GS | 1 |
| Vielhaber, S | 1 |
| Feistner, H | 1 |
| Weis, J | 1 |
| Kreuder, J | 1 |
| Sailer, M | 1 |
| Schröder, JM | 1 |
| Kunz, WS | 1 |
| Sinclair, C | 1 |
| Gilchrist, JM | 1 |
| Hennessey, JV | 1 |
| Kandula, M | 1 |
| Kasturi, L | 1 |
| Sawant, SP | 1 |
| Boneh, A | 1 |
| Baumgartner, M | 1 |
| Hayman, M | 1 |
| Peters, H | 1 |
| Beresford, MW | 1 |
| Pourfarzam, M | 2 |
| Turnbull, DM | 3 |
| Davidson, JE | 1 |
| Köppel, S | 1 |
| Gottschalk, J | 1 |
| Blobel, H | 1 |
| Kölker, S | 1 |
| Pacheco, A | 1 |
| Torres, R | 1 |
| Sanhueza, ME | 1 |
| Elgueta, L | 1 |
| Segovia, E | 1 |
| Cano, M | 1 |
| Westermann, CM | 1 |
| Dorland, L | 1 |
| de Sain-van der Velden, MG | 1 |
| Wijnberg, ID | 1 |
| Wanders, RJ | 1 |
| Spliet, WG | 1 |
| Testerink, N | 1 |
| Berger, R | 1 |
| Ruiter, JP | 1 |
| van der Kolk, JH | 1 |
| Scruggs, ER | 1 |
| Dirks Naylor, AJ | 1 |
| Schaub, J | 1 |
| Kaeser, HE | 1 |
| Müller-Höcker, J | 2 |
| Pongratz, D | 6 |
| Deufel, T | 4 |
| Trijbels, JM | 4 |
| Endres, W | 1 |
| Hübner, G | 5 |
| Suzuki, M | 1 |
| Tokuyama, K | 1 |
| Kinoshita, M | 1 |
| Sengers, RC | 5 |
| Fischer, JC | 1 |
| Ruitenbeek, W | 3 |
| Stadhouders, AM | 5 |
| ter Laak, HJ | 2 |
| Jaspar, HH | 1 |
| Rebouche, CJ | 1 |
| Engel, AG | 6 |
| Byrne, E | 3 |
| Borum, PR | 4 |
| Odièvre, M | 2 |
| Ziegan, J | 2 |
| Kühn, HJ | 2 |
| Lössner, J | 2 |
| Künnert, B | 1 |
| Lehmann, J | 2 |
| Bamji, MS | 1 |
| Clark, JB | 2 |
| Hayes, DJ | 1 |
| Morgan-Hughes, JA | 1 |
| Kuhn, E | 1 |
| Siegert, W | 1 |
| Jacob, K | 1 |
| Wieland, OH | 2 |
| Bartlett, K | 2 |
| Stevens, DL | 1 |
| Alberti, KG | 1 |
| Gibson, GJ | 1 |
| Johnson, MA | 2 |
| McCulloch, AJ | 1 |
| Sherratt, HS | 1 |
| Paetzke, I | 2 |
| Prockop, LD | 1 |
| Engel, WK | 1 |
| Shug, AL | 1 |
| Cruse, RP | 1 |
| Di Mauro, S | 3 |
| Towfighi, J | 1 |
| Trevisan, C | 2 |
| Gamstorp, I | 1 |
| Woods, R | 1 |
| Broquist, HP | 2 |
| Sugiyama, N | 2 |
| Wada, Y | 1 |
| Morishita, H | 1 |
| Nonaka, I | 2 |
| Schmidt, A | 1 |
| Hässler, A | 1 |
| Snyder, TM | 1 |
| Little, BW | 1 |
| Roman-Campos, G | 1 |
| McQuillen, JB | 1 |
| Gilly, R | 1 |
| Carrier, H | 2 |
| Lamit, J | 1 |
| Armbrustmacher, VW | 1 |
| Griffin, JL | 1 |
| Buxton, PH | 1 |
| Kamieniecka, Z | 1 |
| Schmalbruch, H | 1 |
| Jerusalem, F | 3 |
| Di Donato, S | 8 |
| Rimoldi, M | 5 |
| Cornelio, F | 8 |
| Bottacchi, E | 1 |
| Giunta, A | 1 |
| Buscaino, GA | 1 |
| Marolda, M | 1 |
| Borgia, A | 1 |
| Cocchiararo, M | 1 |
| Scarafile, P | 1 |
| Parker, D | 1 |
| Root, AW | 1 |
| Schimmel, S | 1 |
| Andriola, M | 1 |
| Carroll, JE | 1 |
| Shumate, JB | 1 |
| Brooke, MH | 1 |
| Hagberg, JM | 1 |
| Testa, D | 1 |
| Mora, M | 1 |
| Gori, G | 1 |
| Peluchetti, D | 5 |
| Griggs, RC | 1 |
| Pandya, S | 1 |
| Moxley, RT | 1 |
| Forbes, G | 1 |
| VanDyke, DH | 1 |
| Pearce, FJ | 1 |
| Bertagnolio, B | 3 |
| Uziel, G | 2 |
| Sengupta, C | 1 |
| Imbach, P | 1 |
| Lämmli, J | 1 |
| De Grandis, D | 1 |
| Mezzina, C | 1 |
| Fiaschi, A | 1 |
| Pinelli, P | 1 |
| Bazzato, G | 1 |
| Morachiello, M | 1 |
| Binder, S | 1 |
| Sluga, E | 1 |
| McGarry, JD | 1 |
| Foster, DW | 1 |
| Bakkeren, JA | 1 |
| Egberink, GJ | 1 |
| Jaspar, HJ | 1 |
| Araki, E | 1 |
| Kobayashi, T | 1 |
| Kohtake, N | 1 |
| Goto, I | 1 |
| Hashimoto, T | 1 |
| Martin, A | 1 |
| Haller, RG | 1 |
| Barohn, R | 1 |
| Bakker, HD | 1 |
| Scholte, HR | 3 |
| Jeneson, JA | 2 |
| Busch, HF | 2 |
| Abeling, NG | 1 |
| van Gennip, AH | 1 |
| Kádár, K | 1 |
| Szendrei, E | 1 |
| Herczegfalvi, A | 1 |
| Powell, BR | 1 |
| Budden, SS | 1 |
| Feinfeld, DA | 1 |
| Kurian, P | 1 |
| Cheng, JT | 1 |
| Dilimetin, G | 1 |
| Arriola, MR | 1 |
| Ward, L | 1 |
| Manis, T | 1 |
| Carvounis, CP | 1 |
| Chalmers, RA | 1 |
| Stanley, CA | 1 |
| English, N | 1 |
| Wigglesworth, JS | 1 |
| Moore, SJ | 1 |
| Haites, NE | 1 |
| Broom, I | 1 |
| White, I | 1 |
| Coleman, RJ | 1 |
| Morris, AA | 1 |
| Nyhan, WL | 1 |
| Kass, PH | 1 |
| Haas, RH | 1 |
| Sakurauchi, Y | 1 |
| Matsumoto, Y | 1 |
| Shinzato, T | 1 |
| Takai, I | 1 |
| Nakamura, Y | 1 |
| Sato, M | 1 |
| Nakai, S | 1 |
| Miwa, M | 1 |
| Morita, H | 1 |
| Miwa, T | 1 |
| Amano, I | 1 |
| Maeda, K | 1 |
| Van Coster, RN | 1 |
| de Jonge, PC | 1 |
| Poorthuis, BJ | 1 |
| Gregersen, N | 1 |
| de Klerk, JB | 1 |
| Vergani, L | 3 |
| Videen, JS | 1 |
| Haseler, LJ | 1 |
| Karpinski, NC | 1 |
| Terkeltaub, RA | 1 |
| Barile, M | 1 |
| Burlina, AB | 1 |
| Nijtmans, L | 1 |
| Freda, MP | 1 |
| Brizio, C | 1 |
| Zerbetto, E | 1 |
| Dabbeni-Sala, F | 1 |
| Gempel, K | 2 |
| Kottlors, M | 1 |
| Jaksch, M | 1 |
| Gerbitz, KD | 2 |
| Bauer, MF | 2 |
| Georgala, S | 1 |
| Schulpis, KH | 1 |
| Georgala, C | 1 |
| Michas, T | 1 |
| Lucas, M | 1 |
| Hinojosa, M | 1 |
| Rodríguez, A | 1 |
| Garcia-Guasch, R | 1 |
| Tóth, G | 1 |
| Morava, E | 1 |
| Selhorst, JJ | 1 |
| Overmars, H | 1 |
| Vreken, P | 1 |
| Molnár, J | 1 |
| Farkas, V | 1 |
| Yorifuji, S | 1 |
| Rettinger, A | 1 |
| Hofmann, S | 1 |
| Hosking, GP | 1 |
| Cavanagh, NP | 1 |
| Smyth, DP | 1 |
| Wilson, J | 1 |
| Morand, P | 1 |
| Despert, F | 1 |
| Carrier, HN | 1 |
| Saudubray, BM | 1 |
| Fardeau, M | 1 |
| Romieux, B | 1 |
| Fauchier, C | 1 |
| Combe, P | 1 |
| Bosch, EP | 1 |
| Munsat, TL | 1 |
| Bizze, A | 1 |
| D'Angelo, A | 1 |
| Wiesmann, U | 1 |
| Whitaker, JN | 1 |
| Solomon, SS | 1 |
| Sabesin, S | 1 |
| Duckworth, WC | 1 |
| Mendell, JR | 1 |
| Karpati, G | 1 |
| Carpenter, S | 1 |
| Watters, G | 1 |
| Allen, J | 1 |
| Rothman, S | 1 |
| Klassen, G | 1 |
| Mamer, OA | 1 |
| Spiess, H | 1 |
| Baumgartner, G | 1 |
| Claireaux, AE | 1 |
| Lake, BD | 2 |
| Pande, SV | 1 |
| Land, JM | 1 |
| Somer, H | 2 |
| Mitchell, ME | 1 |
| Willner, J | 1 |
| Eastwood, A | 1 |
| Hays, A | 1 |
| Roohi, F | 1 |
| Lovelace, R | 1 |
| Mølstad, P | 1 |
| Bøhmer, T | 1 |
| Aingorn, ED | 1 |
| Zhurba, LT | 1 |
| Koroleva, IA | 1 |
| Timonina, OV | 1 |
| Sitnikov, VF | 1 |
| Wieland, O | 1 |
| Pongratz, E | 1 |
| Liphardt, R | 1 |
| Dusheiko, G | 1 |
| Kew, MC | 1 |
| Joffe, BI | 1 |
| Lewin, JR | 1 |
| Mantagos, S | 1 |
| Tanaka, K | 1 |
| Hart, ZH | 1 |
| Chang, CH | 1 |
| Farooki, Q | 1 |
| Ayyar, R | 1 |
| Balestrini, MR | 1 |
| DiDonato, S | 2 |
| Storchi, G | 1 |
| Scarlato, G | 3 |
| Albizzati, MG | 1 |
| Bassi, S | 1 |
| Cerri, C | 3 |
| Frattola, L | 1 |
| Ikeakor, IP | 1 |
| Pellegrini, G | 1 |
| Meola, G | 2 |
| Veicsteinas, A | 1 |
| Caccia, MR | 1 |
| Gravame, V | 1 |
| Pagni, R | 1 |
| Scarpini, E | 1 |
| Banker, BQ | 1 |
| Eiben, RM | 1 |
| Lücke, S | 1 |
| Cantarutti, F | 1 |
| Isaacs, H | 1 |
| Heffron, JJ | 1 |
| Badenhorst, M | 1 |
| Pickering, A | 1 |
| Jacob, C | 1 |
| Belleville, F | 1 |
| Salo, MK | 1 |
| Rapola, J | 1 |
| Pihko, H | 1 |
| Koivikko, M | 1 |
| Tritschler, HJ | 1 |
| László, A | 2 |
| Klujber, L | 2 |
| Svékus, A | 2 |
| Rose, SJ | 1 |
| Stokes, TC | 1 |
| Patel, S | 1 |
| Cooper, MB | 1 |
| Betteridge, DJ | 1 |
| Payne, JE | 1 |
| Heinonen, OJ | 1 |
| Papadimitriou, A | 1 |
| Servidei, S | 1 |
| Verity, MA | 1 |
| Bernsen, PL | 1 |
| Gabreëls, FJ | 1 |
| Renier, WO | 1 |
| Voit, T | 1 |
| Kramer, H | 1 |
| Thomas, C | 1 |
| Wechsler, W | 1 |
| Reichmann, H | 3 |
| Lenard, HG | 1 |
| Kuntzer, T | 2 |
| Bogousslavsky, J | 1 |
| Regli, F | 1 |
| Mesmer, OT | 1 |
| Lo, TC | 1 |
| Bell, RB | 1 |
| Brownell, AK | 1 |
| Roe, CR | 1 |
| Goodman, SI | 1 |
| Frerman, FE | 1 |
| Seccombe, DW | 1 |
| Snyder, FF | 1 |
| Gellera, C | 2 |
| Jacobs, G | 1 |
| Cornelius, L | 1 |
| Keene, B | 1 |
| Rakich, P | 1 |
| Shug, A | 1 |
| Itagaki, Y | 1 |
| Nishitani, H | 1 |
| Labrune, P | 1 |
| Marchiori, PE | 1 |
| Gauditano, G | 1 |
| de Mendonça, LL | 1 |
| Scaff, M | 1 |
| Ramires, JA | 1 |
| Antonelli, A | 1 |
| Lus, G | 1 |
| López, JR | 1 |
| Briceño, LE | 1 |
| Cordovez, G | 1 |
| Sánchez, V | 1 |
| Linares, N | 1 |
| Sperl, W | 1 |
| Guggenbichler, JP | 1 |
| Trevisan, CP | 1 |
| DeVivo, DC | 2 |
| Sahgal, V | 1 |
| Solomon, R | 1 |
| Ruderman, MI | 1 |
| Zito, G | 1 |
| Schmidt-Sommerfeld, E | 1 |
| Penn, D | 1 |
| Kitano, A | 1 |
| Nishiyama, S | 1 |
| Miike, T | 1 |
| Hattori, S | 1 |
| Ohtani, Y | 1 |
| Matsuda, I | 1 |
| Trounce, I | 1 |
| Lysiak-Szydłowska, W | 1 |
| Eyre, JA | 1 |
| Gardner-Medwin, D | 1 |
| Fisher, J | 1 |
| Watmough, NJ | 1 |
| Ino, T | 1 |
| Sherwood, WG | 2 |
| Benson, LN | 1 |
| Wilson, GJ | 1 |
| Freedom, RM | 1 |
| Rowe, RD | 1 |
| Przyrembel, H | 1 |
| Robert, D | 1 |
| Cox, J | 1 |
| Meier, C | 1 |
| Schwartz, A | 1 |
| Guelpa, G | 1 |
| Pfister, CE | 1 |
| Isaya, G | 1 |
| Pegolo, G | 1 |
| Siliprandi, N | 1 |
| Taggart, EM | 1 |
| Schmickel, RD | 1 |
| DiPalma, JR | 1 |
| Martin, P | 1 |
| Renaud, JF | 1 |
| Kullmann, B | 1 |
| Delpont, E | 1 |
| Romey, G | 1 |
| Cartier, B | 1 |
| Bedoucha, P | 1 |
| Levitan, MD | 1 |
| Murphy, JT | 1 |
| Deck, J | 1 |
| Sawa, GM | 1 |
| Gilbert, EF | 1 |
| Bonilla, E | 1 |
| Zeviani, M | 1 |
| Keith, RE | 1 |
| Beilin, B | 1 |
| Shulman, D | 1 |
| Schiffman, Y | 1 |
| de Visser, M | 1 |
| Schutgens, RB | 1 |
| Bolhuis, PA | 1 |
| Luyt-Houwen, IE | 1 |
| Vaandrager-Verduin, MH | 1 |
| Veder, HA | 1 |
| Oey, PL | 1 |
| Hirata, K | 1 |
| Terasawa, K | 1 |
| Kato, H | 1 |
| Yoshino, M | 1 |
| Ohtaki, E | 1 |
| Hirose, F | 1 |
| Ohta, K | 1 |
| Howard, LJ | 1 |
| Beckerman, AH | 1 |
| Werneck, LC | 1 |
| Scott, C | 1 |
| Penn, AS | 1 |
| Rowland, LP | 1 |
| Vaisrub, S | 1 |
| Bressler, R | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Acute Nutritional Ketosis in VLCAD Deficiency: Testing the Metabolic Base for Therapeutic Use[NCT03531554] | 5 participants (Actual) | Interventional | 2016-04-01 | Completed | |||
| Impact of Hemodialysis on Plasma Carnitine Levels in Patients With End Stage Renal Disease[NCT05817799] | Phase 2/Phase 3 | 83 participants (Anticipated) | Interventional | 2023-01-01 | Recruiting | ||
| Fat and Carbohydrate Metabolism During Exercise, With and Without L-carnitine Supplementation in Patients With Carnitine Transporter Deficiency[NCT02226419] | 14 participants (Actual) | Interventional | 2013-08-31 | Completed | |||
| Use of Acetyl L-Carnitine in Patients With Covid-19 Pneumonia[NCT04623619] | 100 participants (Anticipated) | Interventional | 2020-12-15 | Not yet recruiting | |||
| Pilot Study: Effect of Carnitine Supplementation on Acylcarnitine Profile and Myocardial Function in Children and Young Adults Receiving Continuous Renal Replacement Therapy[NCT01941823] | 29 participants (Actual) | Observational | 2014-12-31 | Completed | |||
| Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy[NCT02635269] | 60 participants (Actual) | Interventional | 2016-01-31 | Active, not recruiting | |||
| 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 | ||
| Phase 4 Study of Mechanisms of Low Protein Diet Supplemented With Ketoanalogs on Reducing Proteinuria and Maintaining Nutritional Status in Type 2 Diabetic Nephropathy[NCT01300273] | Phase 4 | 60 participants (Anticipated) | Interventional | 2011-02-28 | Active, not recruiting | ||
| [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 |
58 reviews available for carnitine and Muscular Diseases
| Article | Year |
|---|---|
Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.
Topics: Cardiomyopathies; Carnitine; Child, Preschool; Humans; Hyperammonemia; Infant, Newborn; Muscular Dis | 2022 |
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Carnitine O-Palmitoyltransferase; Congenital Bone Mar | 2022 |
Carnitine Inborn Errors of Metabolism.
Topics: Aldehyde Oxidoreductases; Cardiomyopathies; Carnitine; Carnitine Acyltransferases; Carnitine O-Palmi | 2019 |
Usefulness of Carnitine Supplementation for the Complications of Liver Cirrhosis.
Topics: Cardiomyopathies; Carnitine; Dietary Supplements; Humans; Hyperammonemia; Liver; Liver Cirrhosis; Mu | 2020 |
The Importance of the Fatty Acid Transporter L-Carnitine in Non-Alcoholic Fatty Liver Disease (NAFLD).
Topics: Alanine Transaminase; Aspartate Aminotransferases; Cardiomyopathies; Carnitine; Dietary Supplements; | 2020 |
Significance of l-carnitine for human health.
Topics: Cardiomyopathies; Carnitine; Carnitine Acyltransferases; Fatty Acids; Humans; Hyperammonemia; Liver; | 2017 |
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 |
A systematic review about prophylactic L-carnitine administration in parenteral nutrition of extremely preterm infants.
Topics: Cardiomyopathies; Carnitine; Humans; Hyperammonemia; Infant; Infant, Extremely Premature; Infant, Ne | 2018 |
Effects of Levocarnitine on Cardiac Function and Renal Anemia in Hemodialysis Patients.
Topics: Anemia; Cardiomyopathies; Carnitine; Heart; Hematinics; Humans; Hyperammonemia; Kidney Failure, Chro | 2018 |
Lipid storage myopathies: Current treatments and future directions.
Topics: Cardiomyopathies; Carnitine; Humans; Hyperammonemia; Lipid Metabolism; Lipid Metabolism, Inborn Erro | 2018 |
Carnitine Profile by Tandem Mass Spectrometry and Dialysis Patients.
Topics: Carboxylic Acids; Cardiomyopathies; Carnitine; Fatty Acids; Humans; Hyperammonemia; Muscular Disease | 2019 |
[Valproic acid-induced hyperammonemic encephalopathy in a patient receiving valproic acid monotherapy].
Topics: Aged; Ammonia; Anticonvulsants; Biomarkers; Cardiomyopathies; Carnitine; Consciousness Disorders; Ep | 2019 |
Mechanisms underlying the anti-wasting effect of L-carnitine supplementation under pathologic conditions: evidence from experimental and clinical studies.
Topics: Animals; Carnitine; Dietary Supplements; Disease Models, Animal; Humans; Muscle, Skeletal; Muscular | 2013 |
Carnitine deficiency in chronic critical illness.
Topics: Cardiomyopathies; Carnitine; Chronic Disease; Critical Illness; Fatty Acids; Humans; Hyperammonemia; | 2014 |
Disorders of carnitine biosynthesis and transport.
Topics: Animals; Autism Spectrum Disorder; Biological Transport; Cardiomyopathies; Carnitine; Fatty Acids; H | 2015 |
[Correlation between serum L-carnitine concentration and neutrophil engraftment in patients treated with cord blood transplantation].
Topics: Cardiomyopathies; Carnitine; Cord Blood Stem Cell Transplantation; Fetal Blood; Graft vs Host Diseas | 2016 |
Veterinary clinical nutrition: success stories: an overview.
Topics: Animal Nutritional Physiological Phenomena; Animals; Calculi; Cardiomyopathies; Cardiomyopathy, Dila | 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 |
Lipid storage myopathies.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Carnitine O-Palmitoyltransferase; Electron Transport Complex I; E | 2008 |
Lipid storage myopathy.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Diagnosis, Differential; Humans; Ichthyosiform Erythroderma, Cong | 2011 |
State of the art in muscle lipid diseases.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Cardiomyopathies; Carnitine; Carnitine O-Palmitoyltransferase; H | 2010 |
Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21).
Topics: Animals; Cardiomyopathies; Carnitine; Carrier Proteins; Humans; Hyperammonemia; Intestinal Absorptio | 2013 |
Mechanisms of zidovudine-induced mitochondrial toxicity and myopathy.
Topics: Anti-HIV Agents; Apoptosis; Carnitine; DNA Polymerase gamma; DNA-Directed DNA Polymerase; DNA, Mitoc | 2008 |
[Metabolic myopathies in childhood. A review in summarized form].
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Child; Child, Preschool; Cytochrome-c Oxidase Deficienc | 1984 |
Drug-induced myasthenic syndromes.
Topics: Adrenergic beta-Antagonists; Adult; Anti-Arrhythmia Agents; Anti-Bacterial Agents; Autoimmune Diseas | 1984 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Historical and current concepts in mitochondrial myopathies.
Topics: Adolescent; Adult; Carnitine; Child; Female; History, 19th Century; History, 20th Century; Humans; M | 1983 |
Carnitine.
Topics: Animals; Biological Transport; Carnitine; Energy Metabolism; Heart Diseases; Humans; Kidney Diseases | 1983 |
[Morphology of metabolic myopathies].
Topics: Carnitine; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Dis | 1984 |
[Carnitine in normal subjects and in pathology].
Topics: Adult; Carnitine; Carnitine O-Palmitoyltransferase; Child; Child, Preschool; Fatty Acids; Humans; In | 1984 |
Nutritional and health implications of lysine carnitine relationship.
Topics: Animals; Carnitine; Glycine Hydroxymethyltransferase; Heart Diseases; Humans; Kidney Diseases; Liver | 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 |
Non-dystrophic, myogenic myopathies with onset in infancy or childhood. A review of some characteristic syndromes.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Child; Child, Preschool; Dermatomyositis; Endocrine Sys | 1982 |
Carnitine biosynthesis: nutritional implications.
Topics: Adenosine Triphosphate; Adolescent; Adult; Aged; Animals; Carnitine; Child; Child, Preschool; Female | 1982 |
Pathology of muscle.
Topics: Adult; Carnitine; Carnitine O-Palmitoyltransferase; Child; Child, Preschool; Denervation; Female; Gl | 1980 |
Neuromuscular disorders with abnormal muscle mitochondria.
Topics: Animals; Carnitine; Diagnosis, Differential; Female; Humans; Lipid Metabolism; Male; Metabolic Disea | 1980 |
[Carnitine deficiency myopathy (author's transl)].
Topics: Adolescent; Carnitine; Child; Child, Preschool; Diagnosis, Differential; Dietary Fats; Electrocardio | 1980 |
Metabolic myopathies.
Topics: Carnitine; Energy Metabolism; Exercise Test; Glycogen Storage Disease; Humans; Magnetic Resonance Sp | 1994 |
[Familial carnitine deficiency].
Topics: Animals; Biological Transport; Carnitine; Carrier Proteins; Diagnosis, Differential; Humans; Membran | 2001 |
Lipid storage myopathies. A review of metabolic defect and of treatment.
Topics: Adult; Carnitine; Carnitine O-Palmitoyltransferase; Child; Child, Preschool; Female; Humans; Infant; | 1976 |
Metabolic myopathies.
Topics: alpha-Glucosidases; AMP Deaminase; Carnitine; Carnitine O-Palmitoyltransferase; Creatine Kinase; Fem | 1979 |
[Carnitine: its role and its action in disease].
Topics: Animals; Carnitine; Carnitine Acyltransferases; Energy Metabolism; Fatty Acids; Humans; Mitochondria | 1977 |
Mitochondrial myopathies.
Topics: Adolescent; Age Factors; Aged; Carnitine; Carnitine O-Palmitoyltransferase; Child; Cytochromes; Elec | 1979 |
[Metabolic myopathies].
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Glycogen; Glycogen Storage Disease; Humans; Mitochondri | 1979 |
Carnitine metabolism in human subjects. III. Metabolism in disease.
Topics: Adolescent; Adult; Animals; Carnitine; Carnitine Acyltransferases; Child; Diabetes Mellitus; Diabeti | 1978 |
[L-carnitine: metabolism, functions and value in pathology].
Topics: Adolescent; Adult; Biological Transport, Active; Carnitine; Carnitine Acyltransferases; Child; Child | 1992 |
Defects of fatty-acid oxidation in muscle.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Carnitine O-Palmitoyltransferase; Electron-T | 1990 |
[Effect of carnitine deficiency on ketogenesis].
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Fatty Acids; Humans; Ketone Bodies; Muscular Diseases | 1989 |
[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 |
Secondary mitochondrial pathology.
Topics: Carnitine; Cytochrome-c Oxidase Deficiency; Drug-Related Side Effects and Adverse Reactions; Humans; | 1987 |
Metabolic myopathies.
Topics: alpha-Glucosidases; Carnitine; Carnitine O-Palmitoyltransferase; Glucan 1,4-alpha-Glucosidase; Glyco | 1986 |
[The physiological role of L-carnitine in the human body: causes and effects of its deficiency].
Topics: Adult; Carnitine; Child; Heart Failure; Humans; Muscular Diseases; Vitamin B Deficiency | 1988 |
Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency.
Topics: Acyltransferases; Adolescent; Adult; Age Factors; Carnitine; Carnitine O-Palmitoyltransferase; Child | 1987 |
Transport and function of carnitine: relevance to carnitine-deficient diseases.
Topics: Animals; Biological Transport, Active; Carnitine; Fatty Acids; Humans; Mitochondria; Muscular Diseas | 1986 |
Carnitine deficiency.
Topics: Animals; Carnitine; Carnitine O-Palmitoyltransferase; Chick Embryo; Humans; Lipid Metabolism, Inborn | 1985 |
Mitochondrial myopathies.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Cytochromes; DNA, Mitochondrial; Humans; Microscopy, El | 1985 |
11 trials available for carnitine and Muscular Diseases
| Article | Year |
|---|---|
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Topics: Adolescent; Adult; Beverages; Blood Glucose; Carnitine; Congenital Bone Marrow Failure Syndromes; Cr | 2020 |
Carnitine insufficiency is associated with fatigue during lenvatinib treatment in patients with hepatocellular carcinoma.
Topics: Aged; Aged, 80 and over; Carcinoma, Hepatocellular; Cardiomyopathies; Carnitine; Dietary Supplements | 2020 |
Effects of L-Carnitine Supplementation in Patients Receiving Hemodialysis or Peritoneal Dialysis.
Topics: Anemia; Cardiomyopathies; Carnitine; Dietary Supplements; Female; Heart; Humans; Hyperammonemia; Jap | 2020 |
L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial.
Topics: Cardiomyopathies; Carnitine; Child; Dietary Supplements; Fatigue; Female; Humans; Hyperammonemia; Ma | 2021 |
L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency.
Topics: Adult; Calorimetry, Indirect; Carbohydrate Metabolism; Cardiomyopathies; Carnitine; Exercise; Fatty | 2018 |
Efficacy of L-carnitine supplementation for improving lean body mass and physical function in patients on hemodialysis: a randomized controlled trial.
Topics: Activities of Daily Living; Adult; Aged; Aged, 80 and over; Body Composition; Cardiomyopathies; Carn | 2019 |
Molecular investigation in Chinese patients with primary carnitine deficiency.
Topics: Adult; Asian People; Cardiomyopathies; Carnitine; China; Female; Humans; Hyperammonemia; INDEL Mutat | 2019 |
Lower carnitine plasma values from malnutrition cancer patients.
Topics: Adolescent; Adult; Biomarkers; Cardiomyopathies; Carnitine; Case-Control Studies; Female; Follow-Up | 2013 |
Preliminary safety and efficacy of L-carnitine infusion for the treatment of vasopressor-dependent septic shock: a randomized control trial.
Topics: Aged; Black or African American; Body Mass Index; Cardiomyopathies; Carnitine; Dose-Response Relatio | 2014 |
[Study of aerobic capacity in chronic hemodialized patients: effect of L-carnitine supplementation].
Topics: Adult; Carnitine; Exercise; Female; Humans; Injections, Intravenous; Kidney Failure, Chronic; Male; | 2008 |
L-carnitine supplementation in patients with cystic acne on isotretinoin therapy.
Topics: Acne Vulgaris; Adult; Alanine Transaminase; Alkaline Phosphatase; Aspartate Aminotransferases; Carni | 1999 |
275 other studies available for carnitine and Muscular Diseases
| Article | Year |
|---|---|
General anesthesia with cisatracurium and sevoflurane for a patient with primary carnitine deficiency receiving L-carnitine therapy: A case report.
Topics: Adult; Anesthesia, General; Anesthetics, Inhalation; Atracurium; Cardiomyopathies; Carnitine; Female | 2021 |
3-Methylglutaconic aciduria in carriers of primary carnitine deficiency.
Topics: Adult; Cardiomyopathies; Carnitine; Female; Heterozygote; Humans; Hyperammonemia; Infant; Infant, Ne | 2021 |
[Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi].
Topics: Cardiomyopathies; Carnitine; China; Humans; Hyperammonemia; Infant, Newborn; Metabolome; Muscular Di | 2021 |
Relationship between Carnitine Deficiency and Tyrosine Kinase Inhibitor Use in Patients with Chronic Myeloid Leukemia.
Topics: Cardiomyopathies; Carnitine; Fatigue; Female; Humans; Hyperammonemia; Leukemia, Myelogenous, Chronic | 2022 |
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.
Topics: Cardiomyopathies; Carnitine; Humans; Hyperammonemia; Infant, Newborn; Muscular Diseases; Mutation; N | 2021 |
Association between Levocarnitine Treatment and the Change in Knee Extensor Strength in Patients Undergoing Hemodialysis: A Post-Hoc Analysis of the Osaka Dialysis Complication Study (ODCS).
Topics: Administration, Intravenous; Aged; Cardiomyopathies; Carnitine; Female; Humans; Hyperammonemia; Knee | 2022 |
Evaluation of the relationship between serum carnitine levels and intradialytic complications in children with kidney failure.
Topics: Adolescent; Cardiomyopathies; Carnitine; Child; Humans; Hyperammonemia; Hypotension; Kidney Failure, | 2022 |
Acylcarnitines and Genetic Variation in Fat Oxidation Genes in HIV-infected, Antiretroviral-treated Children With and Without Myopathy.
Topics: Anti-HIV Agents; Anti-Retroviral Agents; Carnitine; Child; Genetic Variation; HIV Infections; Humans | 2022 |
Lenvatinib causes reduced expression of carnitine/organic cation transporter 2 and carnitine deficiency in the skeletal muscle of rats.
Topics: Animals; Cardiomyopathies; Carnitine; Hyperammonemia; Muscle, Skeletal; Muscular Diseases; Organic C | 2022 |
Systemic Primary Carnitine Deficiency: A Case Report with Homozygoys SLC22A5 Gene Mutation.
Topics: Cardiomyopathies; Carnitine; Humans; Hyperammonemia; Muscular Diseases; Mutation; Solute Carrier Fam | 2022 |
Rare case of primary carnitine deficiency presenting as acute liver failure.
Topics: Adult; Cardiomyopathies; Carnitine; Child; Child, Preschool; Fatty Acids; Humans; Hyperammonemia; Li | 2022 |
Topics: 2-Methyl-4-chlorophenoxyacetic Acid; Acer; Animals; Carnitine; Deer; Herbivory; Horse Diseases; Hors | 2022 |
Carnitine deficiency, hearing loss and hydrochlorothiazide-induced diabetes mellitus associated with the recurrent p.Trp85Arg variant in HNF4A.
Topics: Cardiomyopathies; Carnitine; Diabetes Mellitus, Type 2; Hearing Loss; Hepatocyte Nuclear Factor 4; H | 2022 |
Dynamics of acylcarnitines, hypoglycin A, méthylènecyclopropylglycine and their metabolites in a Kladruber stallion with atypical myopathy.
Topics: Acyl-CoA Dehydrogenases; Animals; Carnitine; Creatine Kinase; Cyclopropanes; Fatty Acids; Glycine; H | 2022 |
Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients.
Topics: Cardiomyopathies; Cardiomyopathy, Dilated; Carnitine; Heart Failure; Humans; Hyperammonemia; Male; M | 2022 |
[Analysis of blood carnitine profile and SLC22A5 gene variants in 17 neonates with Primary carnitine deficiency].
Topics: Cardiomyopathies; Carnitine; Humans; Hyperammonemia; Infant, Newborn; Muscular Diseases; Solute Carr | 2023 |
A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.
Topics: Cardiomyopathies; Carnitine; Female; Humans; Infant, Newborn; Mothers; Muscular Diseases; Neonatal S | 2023 |
Molecular Autopsy Implicates Primary Carnitine Deficiency in Sudden Unexplained Death and Reversible Short QT Syndrome.
Topics: Adult; Autopsy; Cardiomyopathies; Carnitine; Death, Sudden, Cardiac; DNA; Fatal Outcome; Female; Gen | 2019 |
Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency - a cardiac magnetic resonance study.
Topics: Adult; Carnitine; Cicatrix; Contrast Media; Female; Gadolinium; Heart; Heterozygote; Homozygote; Hum | 2019 |
Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study.
Topics: Adolescent; Adult; Carnitine; Child; China; Electron-Transferring Flavoproteins; Female; Humans; Hyp | 2019 |
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Asian People; Carnitine; China; Congenital Bone Marrow Failure S | 2020 |
[Clinical and genetic characteristics of primary carnitine deficiency identified by neonatal screening].
Topics: Cardiomyopathies; Carnitine; China; Female; Humans; Hyperammonemia; Infant, Newborn; Muscular Diseas | 2019 |
[Follow-up study in German Hunting Terrier dogs with exercise induced metabolic myopathy].
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Diet; Dog Diseases; Dogs; Follow-Up Studies; | 2019 |
Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mouse.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Cardiomyopathies; Carnitine; Disease Models, Animal; Fa | 2020 |
Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.
Topics: 5' Untranslated Regions; Actins; Biological Transport, Active; Cardiomyopathies; Carnitine; Cells, C | 2020 |
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Child; Child, Preschool; Congenital Bone Marrow Failu | 2020 |
Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!
Topics: Cardiomyopathies; Carnitine; Child; Heart Transplantation; Humans; Hyperammonemia; Infant, Newborn; | 2020 |
Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China.
Topics: Cardiomyopathies; Carnitine; China; Humans; Hyperammonemia; Infant, Newborn; Muscular Diseases; Neon | 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 |
Ventricular Fibrillation Caused by Primary Carnitine Deficiency.
Topics: Adult; Cardiomyopathies; Cardiopulmonary Resuscitation; Carnitine; Electric Countershock; Female; Hu | 2020 |
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Cardiomyopathies; Carnitine; Cohort Studies; Congenital Bone Mar | 2020 |
Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; China; Congenital Bone Marrow Failure Syndromes; Huma | 2020 |
Metabolic Serendipities of Expanded Newborn Screening.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Cardiomyopathies; Carnitine; Dried | 2020 |
Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn.
Topics: Cardiomyopathies; Carnitine; China; Cholestasis, Intrahepatic; Citrullinemia; Humans; Hyperammonemia | 2020 |
Newborn screening for primary carnitine deficiency in Quanzhou, China.
Topics: Cardiomyopathies; Carnitine; Child; China; Female; Humans; Hyperammonemia; Infant, Newborn; Muscular | 2021 |
Biochemical and genetic characteristics of 40 neonates with carnitine deficiency.
Topics: Cardiomyopathies; Carnitine; Child; Humans; Hyperammonemia; Infant, Newborn; Muscular Diseases; Muta | 2020 |
Role of carnitine in regulation of blood pressure (MAP/SBP) and gene expression of cardiac hypertrophy markers (α/β-MHC) during insulin-induced hypoglycaemia: Role of oxidative stress.
Topics: Animals; Blood Pressure; Cardiomyopathies; Carnitine; Hyperammonemia; Hypertension; Muscular Disease | 2021 |
Effectiveness of monitoring free carnitine levels for L-carnitine supplementation in hemodialysis patients to maintain carnitine sufficiency and nutritional factors.
Topics: Aged; Cardiomyopathies; Carnitine; Dietary Supplements; Female; Humans; Hyperammonemia; Kidney Failu | 2021 |
Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency.
Topics: Adult; Cardiomyopathies; Carnitine; Female; Gene Frequency; Humans; Hyperammonemia; Infant; Male; Mu | 2021 |
Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency.
Topics: Adult; Anti-Obesity Agents; Asian People; Carnitine; Female; Humans; Metformin; Multiple Acyl Coenzy | 2021 |
Hypoglycemia Due to Acquired Carnitine Deficiency in a Pediatric Patient Receiving Chemotherapy.
Topics: Cardiomyopathies; Carnitine; Child; Humans; Hyperammonemia; Hypoglycemia; Infant; Male; Malnutrition | 2022 |
Increased detection of primary carnitine deficiency through second-tier newborn genetic screening.
Topics: Cardiomyopathies; Carnitine; Genetic Testing; Humans; Hyperammonemia; Infant, Newborn; Muscular Dise | 2021 |
[Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency].
Topics: Adult; Carnitine; Consensus; Humans; Infant, Newborn; Multiple Acyl Coenzyme A Dehydrogenase Deficie | 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 |
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.
Topics: Carnitine; Carnitine Acyltransferases; Female; Humans; Lipid Metabolism, Inborn Errors; Membrane Tra | 2021 |
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
Topics: California; Cardiomyopathies; Carnitine; Dried Blood Spot Testing; False Positive Reactions; Female; | 2017 |
Plasma 2-hydroxyglutarate and hexanoylcarnitine levels are potential biomarkers for skeletal muscle toxicity in male Fischer 344 rats.
Topics: Aniline Compounds; Animals; Biomarkers; Carnitine; Creatine Kinase; Disease Models, Animal; Glutarat | 2017 |
Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening.
Topics: Alleles; Cardiomyopathies; Carnitine; Female; Genotype; Humans; Hyperammonemia; Infant, Newborn; Mal | 2017 |
Gene and environment interactions in autism risk: Reflections on the carnitine deficiency hypothesis by Beaudet (Comment on DOI 10.1002/bies.201700012).
Topics: Autistic Disorder; Carnitine; Gene-Environment Interaction; Humans; Hyperammonemia; Muscular Disease | 2017 |
Functional and molecular studies in primary carnitine deficiency.
Topics: Amino Acid Substitution; Animals; Biological Transport; Cardiomyopathies; Carnitine; CHO Cells; Cric | 2017 |
Acylcarnitines profile best predicts survival in horses with atypical myopathy.
Topics: Animals; Carnitine; Horse Diseases; Horses; Muscular Diseases; Prognosis; Survival Rate | 2017 |
[Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].
Topics: Acyl-CoA Dehydrogenase; Cardiomyopathies; Carnitine; China; Follow-Up Studies; Humans; Hyperammonemi | 2017 |
Infant with hepatomegaly and hypoglycemia: A setting for fatty acid oxidation defects.
Topics: Cardiomyopathies; Carnitine; Chromatography, Gas; DNA Mutational Analysis; Early Diagnosis; Hepatome | 2017 |
[Genetic diagnosis of 10 neonates with primary carnitine deficiency].
Topics: Cardiomyopathies; Carnitine; Computational Biology; Genetic Counseling; Humans; Hyperammonemia; Infa | 2017 |
Development and validation of an ultrahigh performance liquid chromatography-high resolution tandem mass spectrometry quantification method for hypoglycin A and methylene cyclopropyl acetic acid carnitine in horse serum in cases of atypical myopathy.
Topics: Animals; Carnitine; Chromatography, High Pressure Liquid; Cyclopropanes; Horse Diseases; Horses; Hyp | 2018 |
[Rhabdomyolysis - may it be a metabolic myopathy? Case report and diagnostic algorithm].
Topics: Algorithms; Carnitine; Diagnosis, Differential; Female; Humans; Middle Aged; Muscular Diseases; Rhab | 2017 |
Similarities between acylcarnitine profiles in large for gestational age newborns and obesity.
Topics: Cardiomyopathies; Carnitine; Female; Gestational Age; Humans; Hyperammonemia; Infant, Newborn; Infan | 2017 |
Dilated Cardiomyopathy With Short QT Interval Suggests Primary Carnitine Deficiency.
Topics: Cardiomyopathies; Cardiomyopathy, Dilated; Carnitine; Child; Echocardiography; Electrocardiography; | 2018 |
Dietary intervention rescues myopathy associated with neurofibromatosis type 1.
Topics: Adolescent; Adult; Animals; Carnitine; Child; Child, Preschool; Fatty Acids; Female; Humans; Lipid M | 2018 |
Effect of L-carnitine on the skeletal muscle contractility in simvastatin-induced myopathy in rats.
Topics: Animals; Carnitine; Cholesterol; Female; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Muscle Cont | 2018 |
Carnitine levels and mutations in the SLC22A5 gene in Faroes patients with Parkinson's disease.
Topics: Adult; Aged; Aged, 80 and over; Cardiomyopathies; Carnitine; Case-Control Studies; Denmark; Female; | 2018 |
SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management.
Topics: Cardiomyopathies; Carnitine; Cleft Palate; Fasting; Humans; Hyperammonemia; Infant; Male; Muscular D | 2018 |
Atypical myopathy in Père David's deer (Elaphurus davidianus) associated with ingestion of hypoglycin A.
Topics: Acer; Animal Husbandry; Animals; Austria; Carnitine; Deer; Eating; Female; Germany; Hypoglycins; Mal | 2018 |
Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis.
Topics: Cardiomyopathies; Carnitine; Genetic Testing; Humans; Hyperammonemia; Lipid Metabolism; Male; Middle | 2018 |
Tissue acylcarnitine status in a mouse model of mitochondrial β-oxidation deficiency during metabolic decompensation due to influenza virus infection.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Cardiomyopathies; Carnitine; Congenital Bone Marrow Fai | 2018 |
L-carnitine Improved the Cardiac Function via the Effect on Myocardial Fatty Acid Metabolism in a Hemodialysis Patient.
Topics: Administration, Intravenous; Cardiomyopathies; Carnitine; Fatty Acids; Female; Heart; Humans; Hypera | 2018 |
Newborn foal with atypical myopathy.
Topics: Animals; Animals, Newborn; Carnitine; Genetic Predisposition to Disease; Horse Diseases; Horses; Mus | 2018 |
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.
Topics: Adolescent; Carnitine; Codon, Terminator; Electron Transport Complex IV; Female; Frameshift Mutation | 2019 |
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Amino Acid Metabolism, Inborn Errors; Ca | 2019 |
A newborn with seizures born to a mother diagnosed with primary carnitine deficiency.
Topics: Brain; Cardiomyopathies; Carnitine; Electroencephalography; Female; Fetal Diseases; Humans; Hyperamm | 2019 |
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency].
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; China; Congenital Bone Marrow Failure Syndromes; Huma | 2019 |
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Child; Child, Preschool; Congenital Bone | 2019 |
A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.
Topics: 5' Untranslated Regions; Alleles; Amino Acid Sequence; Base Sequence; Biological Transport; Cardiomy | 2019 |
Primary carnitine deficiency with severe acute hepatitis following rotavirus gastroenteritis.
Topics: Acute Disease; Cardiomyopathies; Carnitine; Female; Gastroenteritis; Hepatitis; Humans; Hyperammonem | 2019 |
Relapsing Hypoglycemia Associated with Hypocarnitinemia Following Treatment with Cefcapene Pivoxil in an Elderly Man.
Topics: Administration, Oral; Aged, 80 and over; Blood Glucose; Cardiomyopathies; Carnitine; Cephalosporins; | 2019 |
[SLC22A5 gene mutation analysis and prenatal diagnosis for a family with primary carnitine deficiency].
Topics: Cardiomyopathies; Carnitine; Child, Preschool; DNA Mutational Analysis; Female; Humans; Hyperammonem | 2019 |
Increased risk of sudden death in untreated primary carnitine deficiency.
Topics: Adolescent; Adult; Arrhythmias, Cardiac; Cardiomyopathies; Carnitine; Child; Child, Preschool; Death | 2020 |
Cardiac magnetic resonance findings in a case of carnitine deficiency.
Topics: Arrhythmias, Cardiac; Cardiomyopathies; Carnitine; Contrast Media; Death, Sudden, Cardiac; Defibrill | 2013 |
Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.
Topics: Animals; Cardiomyopathies; Carnitine; Female; Humans; Hyperammonemia; Muscular Diseases; Organic Cat | 2013 |
Response to chen et Al.: carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.
Topics: Animals; Cardiomyopathies; Carnitine; Female; Humans; Hyperammonemia; Muscular Diseases; Organic Cat | 2013 |
Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Cardiomyopathies; Carnitine; Child; Child, Preschool; De | 2014 |
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Topics: Acyl-CoA Dehydrogenase; Cardiomyopathies; Carnitine; Dietary Supplements; Female; Genetic Associatio | 2013 |
The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Anti-Bacterial Agents; Carnitine; Cells, Cultured; Congenital Bo | 2013 |
Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening.
Topics: Adolescent; Adult; Arrhythmias, Cardiac; Cardiomyopathies; Carnitine; Denmark; Dietary Supplements; | 2014 |
ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Acyl-CoA Dehydrogenases; Carnitine; Catalysis; Cell Line; Congen | 2014 |
Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager.
Topics: Adolescent; Carnitine; Humans; Male; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscular Dis | 2015 |
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Congenital Bone Marrow Failure Syndromes; Demography; | 2014 |
Carnitine and cardiac dysfunction in childhood cancer survivors treated with anthracyclines.
Topics: Adolescent; Adult; Anthracyclines; Cardiomyopathies; Cardiovascular Diseases; Carnitine; Child; Fema | 2014 |
Primary carnitine deficiency cardiomyopathy.
Topics: Adolescent; Cardiomyopathies; Carnitine; Child; Female; Humans; Hyperammonemia; Infant; Male; Muscul | 2014 |
Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.
Topics: Asian People; Cardiomyopathies; Carnitine; Child; Child, Preschool; DNA Mutational Analysis; Exons; | 2014 |
[Genetics and pedigree analysis of primary carnitine deficiency cardiomyopathy in 6 cases].
Topics: Adolescent; Base Sequence; Cardiomyopathies; Carnitine; Child; Child, Preschool; DNA Mutational Anal | 2014 |
[Primary carnitine deficiency in an infant].
Topics: Cardiomyopathies; Carnitine; Female; Humans; Hyperammonemia; Infant; Muscular Diseases | 2014 |
Creatine, L-carnitine, and ω3 polyunsaturated fatty acid supplementation from healthy to diseased skeletal muscle.
Topics: Animals; Carnitine; Creatine; Fatty Acids, Omega-3; Humans; Mice; Muscular Diseases | 2014 |
Carnitine deficiency: Risk factors and incidence in children with epilepsy.
Topics: Adolescent; Anticonvulsants; Cardiomyopathies; Carnitine; Case-Control Studies; Child; Child, Presch | 2015 |
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Acyl-CoA Dehydrogenases; Amniotic Fluid; Ascorbic Acid; Asian Pe | 2015 |
Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.
Topics: Acetylcysteine; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Amino Acid Sequence; Car | 2015 |
Carnitine is associated with fatigue following chemoradiotherapy for head and neck cancer.
Topics: Animals; Cardiomyopathies; Carnitine; Chemoradiotherapy; Female; Head and Neck Neoplasms; Humans; Hy | 2015 |
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Amino Acid Sequence; Base Sequence; Carnitine; Conge | 2015 |
Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.
Topics: Base Sequence; Cardiomyopathies; Carnitine; Diagnosis, Differential; DNA Mutational Analysis; Female | 2015 |
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.
Topics: Autism Spectrum Disorder; Autistic Disorder; Cardiomyopathies; Carnitine; Child Development Disorder | 2015 |
Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.
Topics: Adolescent; Cardiomyopathies; Carnitine; Child; Child, Preschool; Hormone Replacement Therapy; Human | 2015 |
Carnitine deficiency induces a short QT syndrome.
Topics: Adult; Animals; Arrhythmias, Cardiac; Cardiomyopathies; Carnitine; Child, Preschool; Echocardiograph | 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 |
[Genetic and prenatal diagnosis for a Chinese family with primary carnitine deficiency].
Topics: Adult; Asian People; Base Sequence; Cardiomyopathies; Carnitine; China; Exons; Female; Genotype; Hum | 2015 |
Carnitine deficiency in children receiving continuous renal replacement therapy.
Topics: Acute Kidney Injury; Adolescent; Adult; Cardiomyopathies; Carnitine; Child; Child, Preschool; Female | 2016 |
Reversible weakness and encephalopathy while on long-term valproate treatment due to carnitine deficiency.
Topics: Adult; Antimanic Agents; Brain Diseases; Cardiomyopathies; Carnitine; Female; Humans; Hyperammonemia | 2015 |
Hypoglycin A Content in Blood and Urine Discriminates Horses with Atypical Myopathy from Clinically Normal Horses Grazing on the Same Pasture.
Topics: Acer; Animals; Carnitine; Disease Outbreaks; Horse Diseases; Horses; Hypoglycins; Muscular Diseases; | 2015 |
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Alleles; Carnitine; Computer Simulation; Congenital Bone Marrow | 2015 |
Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.
Topics: Adult; Age Factors; Carnitine; Humans; Male; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Musc | 2016 |
Elevation of pivaloylcarnitine by sivelestat sodium in two children.
Topics: Amino Acid Metabolism, Inborn Errors; Cardiomyopathies; Carnitine; Child, Preschool; Chromatography, | 2015 |
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Child; Child, Preschool; Congenital Bone | 2016 |
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Case-Control Studies; Congenital Bone Marrow Failure | 2016 |
A Moderate Carnitine Deficiency Exacerbates Isoproterenol-Induced Myocardial Injury in Rats.
Topics: Animals; Cardiomyopathies; Carnitine; Diastole; Heart; Heart Diseases; Heart Rate; Hyperammonemia; I | 2016 |
Hemodialysis Associated with Severe and Unpredictable Hypoglycemia.
Topics: Aged; Autopsy; Blood Glucose; Cardiomyopathies; Carnitine; Diabetes Mellitus, Type 2; Fatal Outcome; | 2016 |
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Topics: Adolescent; Adult; Aged; Carnitine; Computational Biology; DNA Mutational Analysis; Electron-Transfe | 2016 |
Lipolysis and lipophagy in lipid storage myopathies.
Topics: Adolescent; Adult; Aged; Autophagy; Cardiomyopathies; Carnitine; Carnitine O-Palmitoyltransferase; C | 2016 |
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Child; Child, Preschool; Congenital Bone | 2016 |
Mitochondrial function is altered in horse atypical myopathy.
Topics: Acer; Animal Feed; Animals; Carnitine; Europe; Female; Horse Diseases; Horses; Hypoglycins; Male; Mi | 2016 |
Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.
Topics: Cardiomyopathies; Carnitine; Hepatomegaly; Humans; Hyperammonemia; Infant; Male; Muscular Diseases | 2017 |
Dilated Cardiomyopathy as the Only Clinical Manifestation of Carnitine Transporter Deficiency.
Topics: Cardiomyopathies; Cardiomyopathy, Dilated; Carnitine; Child, Preschool; Diagnosis, Differential; Fem | 2017 |
Round Table Discussion.
Topics: Adolescent; Autistic Disorder; Biomedical Research; Cardiomyopathies; Carnitine; Child; Congresses a | 2016 |
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Boston; Cardiomyopath | 2017 |
[Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency].
Topics: Adult; Amino Acid Sequence; Base Sequence; Cardiomyopathies; Carnitine; DNA Mutational Analysis; Fem | 2017 |
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 |
Longitudinal study of the effects of chronic hypothyroidism on skeletal muscle in dogs.
Topics: Animals; Carnitine; Chronic Disease; Dog Diseases; Dogs; Female; Hypothyroidism; Muscle, Skeletal; M | 2009 |
Muscle carnitine deficiency: adult onset lipid storage myopathy with sensory neuropathy.
Topics: Adult; Carnitine; China; Humans; Lipid Metabolism Disorders; Male; Muscle, Skeletal; Muscular Diseas | 2010 |
Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency.
Topics: Amino Acid Substitution; Animals; Biological Transport; Blotting, Western; Cardiomyopathies; Carniti | 2011 |
Induction of PDK4 in the heart muscle of JVS mice, an animal model of systemic carnitine deficiency, does not appear to reduce glucose utilization by the heart.
Topics: Animals; Cardiomyopathies; Carnitine; Disease Models, Animal; Female; Glucose; Hyperammonemia; Male; | 2011 |
Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Congenital Bone Marrow Failure Syndromes; Female; Gen | 2011 |
The possible role of L-carnitine on the skeletal muscle of ovariectomized rats.
Topics: Animals; Body Weight; Carnitine; Estradiol; Female; Hypertrophy; Muscle, Skeletal; Muscular Diseases | 2011 |
Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Canada | 2012 |
Genotype-phenotype correlation in primary carnitine deficiency.
Topics: Adult; Animals; Asymptomatic Diseases; Biological Transport; Cardiomyopathies; Carnitine; Child; Chi | 2012 |
Hepatic and muscular effects of different dietary fat content in VLCAD deficient mice.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Congenital Bone Marrow Failure Syndromes; Di | 2011 |
Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2.
Topics: Cardiomyopathies; Carnitine; Death, Sudden, Cardiac; Defibrillators, Implantable; Electrocardiograph | 2011 |
Thirty-year follow-up of carnitine supplementation in two siblings with hypertrophic cardiomyopathy caused by primary systemic carnitine deficiency.
Topics: Adult; Cardiomyopathies; Cardiomyopathy, Hypertrophic; Carnitine; Dietary Supplements; Follow-Up Stu | 2012 |
Acquired encephalopathy associated with carnitine deficiency after cefditoren pivoxil administration.
Topics: Anti-Bacterial Agents; Brain Diseases, Metabolic; Cardiomyopathies; Carnitine; Cephalosporins; Diagn | 2012 |
[A cause of dilated cardiomyopathy in a child: primary carnitine deficiency].
Topics: Biomarkers; Cardiomyopathies; Cardiomyopathy, Dilated; Carnitine; Child, Preschool; Dyspnea; Humans; | 2014 |
Carnitine deficiency.
Topics: Biopsy; Carnitine; Child; Diagnosis, Differential; Disease Progression; Electromyography; Female; He | 2012 |
Long-term correction of very long-chain acyl-coA dehydrogenase deficiency in mice using AAV9 gene therapy.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Congenital Bone Marrow Failure Syndromes; De | 2012 |
Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events.
Topics: Adult; Anti-Bacterial Agents; Arrhythmias, Cardiac; Cardiomyopathies; Carnitine; Child, Preschool; D | 2013 |
Primary carnitine deficiency dilated cardiomyopathy: 28 years follow-up.
Topics: Cardiomyopathies; Cardiomyopathy, Dilated; Carnitine; Child, Preschool; Echocardiography; Female; Fo | 2013 |
Effect of hemodialysis session on the dynamics of carnitine ester profile changes in L-carnitine pretreated end-stage renal disease patients.
Topics: Adult; Aged; Aged, 80 and over; Cardiomyopathies; Carnitine; Dietary Supplements; Female; Follow-Up | 2013 |
[Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up].
Topics: Cardiomyopathies; Carnitine; Child, Preschool; DNA Mutational Analysis; Female; Follow-Up Studies; H | 2012 |
Successful perioperative management of a patient with primary systemic carnitine deficiency: a case report.
Topics: Cardiomyopathies; Carnitine; Cleft Lip; Cleft Palate; Energy Metabolism; Humans; Hyperammonemia; Inf | 2013 |
SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation.
Topics: Ammonia; Base Sequence; Cardiomyopathies; Carnitine; Humans; Hyperammonemia; Infant, Newborn; Lactic | 2012 |
Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.
Topics: Biological Transport; Cardiomyopathies; Carnitine; Carnitine Acyltransferases; Carnitine O-Palmitoyl | 2013 |
[Primary carnitine deficiency in a neonate].
Topics: Cardiomyopathies; Carnitine; Humans; Hyperammonemia; Infant, Newborn; Male; Muscular Diseases | 2013 |
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
Topics: Base Sequence; Cardiomyopathies; Cardiomyopathy, Dilated; Carnitine; Child; Child, Preschool; Codon, | 2014 |
[Carnitine deficiency myopathy: a case of late diagnosis].
Topics: Adult; Carnitine; Female; Humans; Lipid Metabolism, Inborn Errors; Muscular Diseases; Syndrome | 2002 |
Uremic myopathy.
Topics: Biopsy; Carnitine; Humans; Kidney Failure, Chronic; Kidney Transplantation; Male; Middle Aged; Muscl | 2002 |
Statin-associated myopathy with normal creatine kinase levels.
Topics: Carnitine; Creatine Kinase; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Muscular Disease | 2003 |
Primary carnitine deficiency in a male adult.
Topics: Adult; Carnitine; Creatine Kinase; Humans; Lipid Metabolism; Male; Muscle Weakness; Muscle, Skeletal | 2002 |
The effect of zinc and potassium in the nutrition of Tenebrio molitor, with observations on the expression of a carnitine deficiency.
Topics: Animals; Cardiomyopathies; Carnitine; Humans; Hyperammonemia; Muscular Diseases; Potassium; Tenebrio | 1958 |
Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course.
Topics: Adult; Carnitine; Female; Humans; Lipid Metabolism; Muscular Diseases | 2004 |
Muscle carnitine in hypo- and hyperthyroidism.
Topics: Adult; Biopsy; Carnitine; Down-Regulation; Female; Humans; Hyperthyroidism; Hypothyroidism; Male; Mi | 2005 |
Sodium valproate -- induced skeletal myopathy.
Topics: Anticonvulsants; Carbamazepine; Carnitine; Child, Preschool; Epilepsy; Humans; Male; Muscular Diseas | 2005 |
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 |
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 |
Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?
Topics: Acyl-CoA Dehydrogenase; Carnitine; Diagnostic Errors; Electron-Transferring Flavoproteins; Heterozyg | 2006 |
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Animals; Butyric Acid; Butyryl-CoA Dehydrogenase; C | 2008 |
Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle.
Topics: Carnitine; Cytochrome-c Oxidase Deficiency; Female; Histocytochemistry; Humans; Hypertrophy; Infant; | 1983 |
Urinary profile of L-carnitine and its derivatives in starved normal persons and ACTH injected patients with myopathy.
Topics: Acetylcarnitine; Adrenocorticotropic Hormone; Adult; Carnitine; Child, Preschool; Female; Humans; Hy | 1983 |
A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency.
Topics: Brain; Carnitine; Cerebellum; Child, Preschool; Humans; Male; Microscopy, Electron; Mitochondria, Mu | 1983 |
[Carnitine deficiency myopathy].
Topics: Adult; Carnitine; Female; Histocytochemistry; Humans; Middle Aged; Mitochondria, Muscle; Muscles; Mu | 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 |
Myopathic carnitine deficiency associated with lymphocytic malignant non-Hodgkin lymphoma and monoclonal immunoglobulin G-K.
Topics: Carnitine; Humans; Immunoglobulin G; Lymphoma; Male; Middle Aged; Muscular Diseases | 1984 |
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.
Topics: Acyl-CoA Dehydrogenases; Butyryl-CoA Dehydrogenase; Carnitine; Fasting; Female; Humans; Ketone Bodie | 1984 |
[Diagnostic significance of muscle biopsies in metabolic myopathies. II. Clinical biochemistry].
Topics: Adult; Biopsy; Carnitine; Diagnosis, Differential; Electrophoresis, Polyacrylamide Gel; Glycogen Sto | 1984 |
Nearly fatal muscle carnitine deficiency with full recovery after replacement therapy.
Topics: Adult; Carnitine; Female; Humans; Muscles; Muscular Diseases; Quadriplegia; Respiratory Insufficienc | 1983 |
Familial systemic carnitine deficiency.
Topics: Brain Diseases, Metabolic; Carnitine; Child; Child, Preschool; Female; Humans; Liver; Muscles; Muscu | 1984 |
Case for diagnosis: glycogen-lipid mitochondrial myopathy.
Topics: Carnitine; Glycogen; Humans; Infant; Lactates; Lipid Metabolism; Male; Mitochondria, Muscle; Muscula | 1981 |
Different ketogenic response to medium-chain triglycerides and to long-chain triglycerides in a case of muscular carnitine palmitoyltransferase deficiency.
Topics: Acyltransferases; Blood Glucose; Carnitine; Carnitine O-Palmitoyltransferase; Chemical Phenomena; Ch | 1982 |
[Lipid storage myopathy--a contribution to the problem of the differential diagnosis of muscle dystrophy (Duchenne)].
Topics: Age Factors; Carnitine; Child; Diagnosis, Differential; Humans; Lipid Metabolism; Male; Muscular Atr | 1983 |
Successful treatment of familial idiopathic lipid storage myopathy with L-carnitine and modified lipid diet.
Topics: Carnitine; Humans; Lipid Metabolism, Inborn Errors; Male; Middle Aged; Muscles; Muscular Diseases; P | 1982 |
[Congenital myopathy with lipid and glycogen overload of muscle fiber and partial deficit of carnitine].
Topics: Carnitine; Glycogen Storage Disease; Glycogen Storage Disease Type I; Humans; Infant; Lipidoses; Mal | 1980 |
Pathology of inflammatory and metabolic myopathies.
Topics: AMP Deaminase; Carnitine; Carnitine O-Palmitoyltransferase; Glycogen Storage Disease; Humans; Lipido | 1981 |
Evidence for autosomal recessive inheritance in systemic carnitine deficiency.
Topics: Brain Diseases; Carnitine; Child, Preschool; Female; Humans; Muscular Diseases | 1982 |
"Lipid storage myopathy" with muscle carnitine deficiency only.
Topics: Adult; Blood Pressure; Carnitine; Heart Rate; Humans; Lipid Metabolism, Inborn Errors; Male; Muscles | 1982 |
Encephalopathy and fatal myopathy in two siblings. Their association with partial deficiency of muscle carnitine.
Topics: Carnitine; Fasting; Hepatic Encephalopathy; Humans; Infant; Male; Muscles; Muscular Diseases; Myoglo | 1982 |
Riboflavin-responsive lipid myopathy and carnitine deficiency.
Topics: Acyl-CoA Dehydrogenase; Adult; Carnitine; Fasting; Fatty Acid Desaturases; Female; Humans; Lipids; M | 1981 |
"Carnitine deficient" myopathy and cardiomyopathy with fatal outcome.
Topics: Adolescent; Anesthesia, General; Cardiomyopathies; Carnitine; Carnitine O-Palmitoyltransferase; Hear | 1980 |
Treatment of myopathic carnitine deficiency: quantitation of response to prednisone and carnitine.
Topics: Adolescent; Carnitine; Creatinine; Humans; Male; Methylhistidines; Muscular Diseases; Prednisone | 1981 |
Ketogenic response to fasting in human carnitine deficiencies.
Topics: Adult; Carnitine; Fasting; Female; Humans; Ketone Bodies; Liver; Male; Muscles; Muscular Diseases; T | 1980 |
[Carnitine deficiency myopathy (author's transl)].
Topics: Biopsy; Carnitine; Electromyography; Humans; Male; Middle Aged; Muscles; Muscular Diseases; Paralysi | 1980 |
Myasthenia due to carnitine treatment.
Topics: Adult; Carnitine; Edrophonium; Electrophysiology; Humans; Middle Aged; Muscular Diseases; Neural Con | 1980 |
[Differential diagnosis of ocular myopathies].
Topics: Adolescent; Adult; Carnitine; Diagnosis, Differential; Electromyography; Female; Humans; Muscular Di | 1980 |
Systemic carnitine deficiency.
Topics: Carnitine; Child, Preschool; Diet; Fatty Acids; Humans; Lipid Metabolism, Inborn Errors; Male; Muscl | 1980 |
Successful carnitine treatment in a non-carnitine-deficient lipid storage myopathy.
Topics: Biopsy; Carnitine; Female; Humans; Infant; Lipid Metabolism, Inborn Errors; Muscles; Muscular Diseas | 1980 |
A riboflavin-responsive lipid storage myopathy due to multiple acyl-CoA dehydrogenase deficiency: an adult case.
Topics: Acyl-CoA Dehydrogenases; Carnitine; Humans; Lipid Metabolism; Male; Middle Aged; Muscles; Muscular D | 1994 |
Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis.
Topics: Acidosis, Lactic; Ca(2+) Mg(2+)-ATPase; Carnitine; Child; Energy Metabolism; Female; Humans; Magneti | 1994 |
[Carnitine-deficient cardiomyopathy].
Topics: Administration, Oral; Cardiomyopathies; Carnitine; Echocardiography, Doppler; Female; Humans; Infant | 1994 |
Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome.
Topics: Abnormalities, Multiple; Administration, Oral; Biopsy, Needle; Brain; Carnitine; Child; Child, Presc | 1993 |
Effect of oral L-carnitine on serum myoglobin in hemodialysis patients.
Topics: Administration, Oral; Carnitine; Drug Evaluation; Humans; Kidney Failure, Chronic; Muscular Diseases | 1996 |
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.
Topics: Adult; Amnion; Breast Feeding; Carnitine; Carnitine Acyltransferases; Carnitine O-Palmitoyltransfera | 1997 |
Acylcarnitine analysis in the investigation of myopathy.
Topics: Acyl-CoA Dehydrogenase; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Fatty Acid Desaturas | 1998 |
Analysis of organic acids, amino acids, and carnitine in dogs with lipid storage myopathy.
Topics: Acids; Amino Acids; Animals; Carnitine; Dog Diseases; Dogs; Female; Lipid Metabolism; Male; Muscles; | 1998 |
Effects of L-carnitine supplementation on muscular symptoms in hemodialyzed patients.
Topics: Administration, Oral; Aged; Carnitine; Female; Humans; Kidney Failure, Chronic; Male; Middle Aged; M | 1998 |
Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Acyl-CoA Dehydrogenases; Adolescent; Adult; Cardiomyopathy, Hype | 1999 |
Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro.
Topics: Carnitine; Circadian Rhythm; Female; Humans; Hypoventilation; Infant; Lipid Metabolism, Inborn Error | 1999 |
Noninvasive evaluation of adult onset myopathy from carnitine palmitoyl transferase II deficiency using proton magnetic resonance spectroscopy.
Topics: Adult; Age of Onset; Biomarkers; Carnitine; Carnitine O-Palmitoyltransferase; Fatigue; Female; Human | 1999 |
Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies.
Topics: Adult; Carnitine; Enzyme Activation; Fatty Acid Desaturases; Flavin Mononucleotide; Flavin-Adenine D | 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 |
Anaesthesia in lipid myopathy.
Topics: Anesthesia, Epidural; Anesthesia, General; Anesthetics, Inhalation; Anesthetics, Local; Carnitine; C | 2000 |
Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome.
Topics: Carnitine; Cerebellar Ataxia; Child; DNA, Mitochondrial; Humans; Intellectual Disability; Leigh Dise | 2001 |
Tandem mass spectrometric assay for the determination of carnitine palmitoyltransferase II activity in muscle tissue.
Topics: Acetylcarnitine; Carnitine; Carnitine O-Acetyltransferase; Carnitine O-Palmitoyltransferase; Humans; | 2002 |
Oral treatment of carnitine myopathy.
Topics: Administration, Oral; Adolescent; Carnitine; Child; Follow-Up Studies; Humans; Male; Metabolism, Inb | 1977 |
[Lipidic myopathy with severe cardiomyopathy caused by a generalized carnitine deficiency. Favourable course during carnitine hydrochloride treatment].
Topics: Biopsy; Cardiomyopathies; Carnitine; Child; Female; Follow-Up Studies; Humans; Lipid Metabolism; Lip | 1979 |
Fatal cases of lipid storage myopathy with carnitine deficiency.
Topics: Adult; Carnitine; Child; Female; Humans; Inclusion Bodies; Lipid Metabolism, Inborn Errors; Male; Mu | 1977 |
Corticosteroid-responsive skeletal muscle disease associated with partial carnitine deficiency: studies of liver and metabolic alterations.
Topics: Biopsy; Carnitine; Cyclic AMP; Female; Glucagon; Humans; Liver; Middle Aged; Mitochondria, Liver; Mu | 1977 |
The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features.
Topics: Adenosine Triphosphatases; Betaine; Carnitine; Child; Endoplasmic Reticulum; Forearm; Glycogen; Hist | 1975 |
Lipid storage myopathy with normal carnitine levels.
Topics: Acetyltransferases; Acid Phosphatase; Adenosine Triphosphatases; Adult; Carnitine; Electromyography; | 1975 |
Muscle disorders in the floppy child.
Topics: Biopsy; Carnitine; Child; Glycogen Storage Disease; Humans; Infant; Muscles; Muscular Atrophy; Muscu | 1978 |
Some aspects of carnitine nutriture.
Topics: Animals; Carnitine; Catalysis; Coronary Disease; Diabetic Ketoacidosis; Fatty Acids; Humans; Lysine; | 1977 |
Carnitine and diseases of skeletal muscle.
Topics: Adult; Carnitine; Carnitine O-Palmitoyltransferase; Dietary Carbohydrates; Humans; Male; Metabolism, | 1979 |
Muscle carnitine deficiency. Genetic heterogeneity.
Topics: Adult; Carnitine; Carnitine O-Palmitoyltransferase; Female; Humans; Lipid Metabolism; Muscles; Muscu | 1979 |
Transport of L-carnitine induced by prednisolone in an established cell line (CCL 27). A possible explanation of the therapeutic effect of glucocorticoids in muscular carnitine deficiency syndrome.
Topics: Biological Transport; Carnitine; Cell Line; Glucocorticoids; Humans; In Vitro Techniques; Kinetics; | 1979 |
[Myopathies related to lipid metabolism disorders (review of the literature)].
Topics: Adult; Carnitine; Carnitine O-Palmitoyltransferase; Electromyography; Female; Histocytochemistry; Hu | 1979 |
[Clinical, morphological and biochemical studies on muscle carnitine deficiency (author's transl)].
Topics: Biopsy; Carnitine; Carnitine O-Palmitoyltransferase; Female; Humans; Infant; Lipid Metabolism, Inbor | 1979 |
Recurrent hypoglycemia associated with glutaric aciduria type II in an adult.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Fatty Acid Desaturases; Fatty Acids, Noneste | 1979 |
Muscle carnitine deficiency and fatal cardiomyopathy.
Topics: Cardiomyopathies; Carnitine; Child, Preschool; Humans; Male; Muscles; Muscular Diseases; Myocardium | 1978 |
Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency.
Topics: Carnitine; Child, Preschool; Female; Glycogen; Histocytochemistry; Humans; Lactates; Lipid Metabolis | 1978 |
Hepatic ketogenesis and muscle carnitine deficiency.
Topics: Acetoacetates; Adult; Blood Glucose; Carnitine; Carnitine O-Palmitoyltransferase; Child; Child, Pres | 1979 |
A case of lipid storage myopathy with carnitine deficiency. Biochemical and electromyographic correlations.
Topics: Adult; Carnitine; Carnitine O-Acetyltransferase; Carnitine O-Palmitoyltransferase; Cholesterol; Elec | 1977 |
Carnitine levels in children.
Topics: Carnitine; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Liver; Male; Muscles; M | 1978 |
The syndrome of carnitine deficiency: morphological and metabolic correlations in two cases.
Topics: Adult; Carnitine; Child; Child, Preschool; Histocytochemistry; Humans; Liver; Male; Muscles; Muscula | 1978 |
Myopathy with paroxysmal myoglobinuria and focal muscle necrosis following enfluorane anaesthesia.
Topics: Adenylyl Cyclases; Adolescent; Carnitine; Carnitine O-Palmitoyltransferase; Enflurane; Glycogen; Hum | 1978 |
Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case.
Topics: Acidosis; Carnitine; Child; Hepatomegaly; Humans; Male; Mitochondria, Muscle; Muscles; Muscular Dise | 1977 |
Carnitine deficiency of skeletal muscle: report of a treated case.
Topics: Carnitine; Child; Female; Humans; Mitochondria, Muscle; Muscles; Muscular Diseases; Syndrome; Vacuol | 1976 |
Weakness associated with the pathological presence of lipid in skeletal muscle: a detailed study of a patient with carnitine deficiencey.
Topics: Adult; Calcium; Carnitine; Drug Therapy, Combination; Humans; Lipid Metabolism; Male; Mitochondria; | 1976 |
The syndrome of carnitine deficiency.
Topics: Adult; Carnitine; Child; Fatty Acids; Female; Humans; Lipid Metabolism, Inborn Errors; Liver; Male; | 1976 |
Reversible mitochondrial myopathy with cytochrome c oxidase deficiency.
Topics: Biopsy; Carnitine; Cells, Cultured; Combined Modality Therapy; Cytochrome-c Oxidase Deficiency; Ente | 1992 |
Bicarnesine-treated carnitine deficient myopathy: clinico-chemical investigations.
Topics: Carnitine; Female; Humans; Infant; Muscular Diseases | 1992 |
Carnitine deficiency associated with long-term pivampicillin treatment: the effect of a replacement therapy regime.
Topics: Carnitine; Drug Administration Schedule; Female; Humans; Middle Aged; Muscular Diseases; Pivampicill | 1992 |
[Can antibiotics cause muscle diseases?].
Topics: Amdinocillin Pivoxil; Animals; Carnitine; Humans; Muscular Diseases; Pivampicillin; Rats | 1990 |
Late onset lipid storage myopathy due to multiple acyl CoA dehydrogenase deficiency triggered by valproate.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Biopsy; Carnitine; Humans; Lipid Metabol | 1991 |
Infantile Pompe's disease, lipid storage, and partial carnitine deficiency.
Topics: Carnitine; Glycogen Storage Disease Type II; Humans; Infant; Lipid Metabolism; Male; Muscular Diseas | 1991 |
Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine.
Topics: Biopsy; Carnitine; Child; Drug Therapy, Combination; Humans; Male; Microscopy, Electron; Muscles; Mu | 1991 |
Myopathy in Williams-Beuren syndrome.
Topics: Adult; Biopsy; Carnitine; Child; Child, Preschool; Contracture; Face; Female; Heart Defects, Congeni | 1991 |
Emetine-induced myopathy and carnitine deficiency.
Topics: Carnitine; Emetine; Female; Humans; Muscular Diseases; Necrosis; Sarcomeres | 1990 |
Hexose transport properties of myoblasts isolated from a patient with suspected muscle carnitine deficiency.
Topics: Adenosine Triphosphate; Carbonyl Cyanide m-Chlorophenyl Hydrazone; Carnitine; Cells, Cultured; Child | 1990 |
Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult.
Topics: Acidosis; Adult; Carnitine; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Female; Glu | 1990 |
Short-chain and medium-chain acylCoA dehydrogenases are lowered in riboflavin-responsive lipid myopathies with multiple acylCoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Animals; Blotting, Western; Carnitine; Electron-Transferr | 1990 |
Comparison of plasma, liver, and skeletal muscle carnitine concentrations in cats with idiopathic hepatic lipidosis and in healthy cats.
Topics: Animals; Carnitine; Cat Diseases; Cats; Female; Lipidoses; Liver; Liver Diseases; Male; Muscles; Mus | 1990 |
[Lipid storage myopathies--carnitine deficiency, carnitine palmitoyltransferase deficiency, pyruvate decarboxylase deficiency].
Topics: Acyltransferases; Carboxy-Lyases; Carnitine; Carnitine O-Palmitoyltransferase; Female; Humans; Lipid | 1990 |
[Secondary muscular carnitine deficiency following immunosuppressive treatment].
Topics: Adult; Azathioprine; Carnitine; Humans; Lipid Metabolism; Male; Muscles; Muscular Diseases; Myositis | 1989 |
Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.
Topics: Acyl-CoA Dehydrogenases; Carnitine; Child; Female; Humans; Metabolic Diseases; Muscular Diseases; Ri | 1989 |
Intracellular free [Ca2+] in human skeletal muscle with myopathic carnitine deficiency.
Topics: Adolescent; Adult; Calcium; Carnitine; Child; Female; Humans; In Vitro Techniques; Intercostal Muscl | 1989 |
Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity.
Topics: Acidosis, Lactic; Carnitine; Fanconi Syndrome; Female; Humans; Infant, Newborn; Lactates; Lactic Aci | 1988 |
Mitochondrial myopathy with diffuse activation and focal deficiency of mitochondrial ATPase and carnitine deficiency.
Topics: Adenosine Triphosphatases; Carnitine; Child; Enzyme Activation; Female; Histocytochemistry; Humans; | 1985 |
Beta-oxidation enzymes in normal human muscle and in muscle from a patient with an unusual form of myopathic carnitine deficiency.
Topics: Acyltransferases; Adult; Carnitine; Carnitine O-Palmitoyltransferase; Child, Preschool; Coenzyme A L | 1985 |
Myopathies due to enzyme deficiencies.
Topics: Adult; Carnitine; Carnitine O-Palmitoyltransferase; Enzymes; Female; Glucan 1,4-alpha-Glucosidase; G | 1985 |
Metabolic response to exercise and muscle disease.
Topics: Adenosine Triphosphatases; Calcium; Carnitine; Carnitine O-Palmitoyltransferase; Female; Glycogen; G | 1986 |
[Carnitine deficiency].
Topics: Carnitine; Carnitine Acyltransferases; Carnitine O-Palmitoyltransferase; Child; Coenzyme A; Cytochro | 1986 |
Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debré syndrome.
Topics: Acidosis, Lactic; Carnitine; Electron Transport Complex IV; Fanconi Syndrome; Female; Humans; Infant | 1986 |
Chronic fatigue and myalgia syndrome: mitochondrial and glycolytic studies in skeletal muscle.
Topics: Adult; Aged; Aged, 80 and over; Asthenia; Carnitine; Chronic Disease; Electron Transport Complex IV; | 1987 |
Lipid storage myopathy due to glutaric aciduria type II: treatment of a potentially fatal myopathy.
Topics: Carnitine; Female; Glutarates; Glutaryl-CoA Dehydrogenase; Glycine; Humans; Infant; Lipid Metabolism | 1988 |
Cardiac manifestations in disorders of fat and carnitine metabolism in infancy.
Topics: Biopsy; Cardiac Catheterization; Cardiomyopathy, Hypertrophic; Carnitine; Echocardiography; Electroc | 1988 |
[Carnitine deficiency].
Topics: Biological Transport; Carnitine; Fatty Acids; Humans; Metabolism, Inborn Errors; Muscular Diseases; | 1988 |
[Lipid myopathy: a heterogenic familial case].
Topics: Adult; Carnitine; Female; Humans; Lipid Metabolism, Inborn Errors; Muscles; Muscular Diseases; NADH, | 1987 |
Carnitine nutriture of dialysis patients.
Topics: Arrhythmias, Cardiac; Carnitine; Humans; Hyperlipidemias; Muscular Diseases; Nutritional Requirement | 1986 |
[Carnitine-deficient myopathy successfully treated with bicarnesine; clinico-chemical and muscle morphology studies].
Topics: Biopsy; Carnitine; Female; Humans; Infant; Infant, Newborn; Muscles; Muscular Diseases | 1986 |
Clinical genetics conference: progress in understanding muscle disease.
Topics: Carnitine; Child; Humans; Magnetic Resonance Spectroscopy; Mitochondria, Muscle; Muscles; Muscular D | 1986 |
L-carnitine: its therapeutic potential.
Topics: Carnitine; Chemical Phenomena; Chemistry; Diagnosis, Differential; Heart Diseases; Humans; Kidney Di | 1986 |
[A case of myopathy with carnitine deficiency].
Topics: Action Potentials; Carnitine; Culture Techniques; Female; Histocytochemistry; Humans; Lipid Metaboli | 1986 |
Adult onset systemic carnitine deficiency: favorable response to L-carnitine supplementation.
Topics: Carnitine; Humans; Liver; Male; Middle Aged; Muscles; Muscular Diseases | 1987 |
Symptoms of carnitinelike deficiency in a trained runner taking DL-carnitine supplements.
Topics: Adult; Carnitine; Humans; Male; Muscular Diseases; Running; Stereoisomerism | 1986 |
Anaesthesia in myopathy of carnitine deficiency.
Topics: Anesthesia, Inhalation; Carnitine; Glucose; Humans; Infant; Male; Muscular Diseases | 1986 |
Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset.
Topics: Adolescent; Carnitine; Child; Fatty Acids; Female; Fibroblasts; Glutarates; Humans; Infant; Lipid Me | 1986 |
Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy.
Topics: Cardiomyopathies; Carnitine; Child; Child, Preschool; Humans; Lipidoses; Male; Muscles; Muscular Dis | 1985 |
A case history of myopathic carnitine deficiency benefited by glucocorticoids and L-carnitine supplementation.
Topics: Adult; Carnitine; Female; Humans; Male; Middle Aged; Muscles; Muscular Diseases; Prednisone | 1985 |
[Muscle carnitine deficiency: report of 8 cases with clinical, electromyographic, histochemical and biochemical studies].
Topics: Adult; Carnitine; Child, Preschool; Electromyography; Female; Humans; Infant; Infant, Newborn; Lipid | 1985 |
Serum carnitine. An index of muscle destruction in man.
Topics: Adolescent; Adult; Alanine Transaminase; Aspartate Aminotransferases; Carbon Isotopes; Carnitine; Ch | 1973 |
Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome.
Topics: Acyltransferases; Adult; Carbon Isotopes; Carnitine; Coenzyme A Ligases; Fatty Acids; Female; Humans | 1973 |
Carnitine deficiency myopathy.
Topics: Adolescent; Carnitine; Coenzyme A; Female; Humans; Lipid Metabolism, Inborn Errors; Mitochondria, Mu | 1973 |
Carnitine and the twins.
Topics: Adolescent; Carnitine; Diseases in Twins; Fatty Acids; Female; Humans; Ligases; Lipid Metabolism, In | 1970 |