Works matching Carnitine deficiency
Results: 672
A Case of Early Diagnosed Carnitine Deficiency Presenting with Respiratory Symptoms.
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- Annals of Nutrition & Metabolism, 2007, v. 51, n. 4, p. 331, doi. 10.1159/000107675
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- Article
MRI Findings in Encephalopathy with Primary Carnitine Deficiency: A Case Report.
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- Journal of Neuroimaging, 2015, v. 25, n. 2, p. 325, doi. 10.1111/jon.12102
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- Article
Impaired Exercise Performance and Skeletal Muscle Mitochondrial Function in Rats with Secondary Carnitine Deficiency.
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- Frontiers in Physiology, 2016, p. 1, doi. 10.3389/fphys.2016.00345
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- Article
Absolute and Relative Carnitine Deficiency in Patients on Hemodialysis and Peritoneal Dialysis.
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- 2016
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- journal article
A Moderate Carnitine Deficiency Exacerbates Isoproterenol-Induced Myocardial Injury in Rats.
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- Cardiovascular Drugs & Therapy, 2016, v. 30, n. 2, p. 119, doi. 10.1007/s10557-016-6647-4
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- Article
A case of atypical systemic primary carnitine deficiency in Saudi Arabia.
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- 2018
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- Case Study
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 1, p. 82, doi. 10.3390/ijms18010082
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- Article
Carnitine deficiency: a possible risk factor in paracetamol hepatotoxicity.
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- Archives of Toxicology, 2009, v. 83, n. 2, p. 139, doi. 10.1007/s00204-008-0330-x
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- Article
Carnitine Deficiency Aggravates Cyclophosphamide-Induced Cardiotoxicity in Rats.
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- Chemotherapy (0009-3157), 2010, v. 56, n. 1, p. 71, doi. 10.1159/000298822
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- Article
Carnitine deficiency presenting with a decreased mental state in a patient with amyotrophic lateral sclerosis receiving long-term tube feeding: a case report.
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- 2013
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- Case Study
Short-term carnitine deficiency does not alter aerobic rat heart function but depresses reperfusion recovery after ischemia.
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- Canadian Journal of Physiology & Pharmacology, 2001, v. 79, n. 10, p. 892, doi. 10.1139/y01-051
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- Article
Acquired encephalopathy associated with carnitine deficiency after cefditoren pivoxil administration.
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- Neurological Sciences, 2012, v. 33, n. 6, p. 1393, doi. 10.1007/s10072-012-0939-7
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- Article
Neonatal Arrhythmias Due to Deficiency of Carnitine Palmitoyltransferase II.
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- 2015
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- Case Study
Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.
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- Journal of Genetics, 2015, v. 94, n. 1, p. 147, doi. 10.1007/s12041-015-0486-0
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- Article
Successful perioperative management of a patient with primary systemic carnitine deficiency: a case report.
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- 2013
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- Letter
Effect of Carnitine Deprivation on Carnitine Homeostasis and Energy Metabolism in Mice with Systemic Carnitine Deficiency.
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- Annals of Nutrition & Metabolism, 2008, v. 52, n. 2, p. 136, doi. 10.1159/000127390
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- Article
Carnitine Deficiency and Pregnancy.
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- Case Reports in Obstetrics & Gynecology, 2015, v. 2015, p. 1, doi. 10.1155/2015/101468
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- Article
Cardiac Magnetic Resonance Findings in a Case of Carnitine Deficiency.
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- Texas Heart Institute Journal, 2013, v. 40, n. 1, p. 104
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- Article
Carnitine Deficiency in Chinese Children with Epilepsy on Valproate Monotherapy.
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- Indian Pediatrics, 2018, v. 55, n. 3, p. 222, doi. 10.1007/s13312-018-1322-4
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- Article
Carnitine Palmitoy Itransferase 2 Deficiency: The Time-Course of Blood and Urinary Acylcarnitine Levels during Initial L-Carnitine Supplementation.
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- Tohoku Journal of Experimental Medicine, 2010, v. 221, n. 3, p. 191, doi. 10.1620/tjem.221.191
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- Article
Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.
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- BioEssays, 2017, v. 39, n. 8, p. n/a, doi. 10.1002/bies.201700012
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- Article
Incidence of carnitine deficiency in patients with cancer pain: A pilot study.
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- Molecular & Clinical Oncology, 2017, v. 6, n. 3, p. 331, doi. 10.3892/mco.2017.1159
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- Article
COMPARACIÓN DE DOS TÉCNICAS COMO HERRAMIENTA DIAGNÓSTICA DE LA DEFICIENCIA DE CARNITINA ACILCARNITINA TRANSLOCASA.
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- Biosalud, 2012, v. 11, n. 1, p. 17
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- Article
A cross-sectional study of carnitine deficiency and fatigue in pediatric cancer patients.
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- Child's Nervous System, 2016, v. 32, n. 3, p. 475, doi. 10.1007/s00381-015-2983-0
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- Article
"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child.
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- 2001
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- journal article
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.
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- European Journal of Pediatrics, 2000, v. 159, n. 1/2, p. 82, doi. 10.1007/PL00013810
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- Article
Carnitine Deficiency Disorders in Children.
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- Annals of the New York Academy of Sciences, 2004, v. 1033, n. 1, p. 42, doi. 10.1196/annals.1320.004
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- Article
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 68, doi. 10.1186/1750-1172-7-68
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- Article
Carnitine deficiency presenting with encephalopathy and hyperammonemia in a patient receiving chronic enteral tube feeding: a case report.
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- 2012
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- journal article
Primary carnitine deficiency as a cause of metabolic leukoencephalopathy: Report of one case.
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- 2016
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- journal article
Genomic organization and mapping of mouse CDV (carnitine deficiency-associated gene expressed in ventricle)-1 and its related CDV-1R gene.
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- Mammalian Genome, 2000, v. 11, n. 12, p. 1053, doi. 10.1007/s003350010207
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- Article
Primary Carnitine Deficiency and Sudden Death: In vivo Evidence of Myocardial Lipid Peroxidation and Sulfonylation of Sarcoendoplasmic Reticulum Calcium ATPase 2.
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- Cardiology, 2011, v. 120, n. 1, p. 52, doi. 10.1159/000333127
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- Article
Carnitine Deficiency Provokes Cisplatin-Induced Hepatotoxicity in Rats.
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- Basic & Clinical Pharmacology & Toxicology, 2007, v. 100, n. 3, p. 145, doi. 10.1111/j.1742-7843.2006.00024.x
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- Article
Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency - a cardiac magnetic resonance study.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50458-9
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- Article
Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy.
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- Case Reports in Cardiology, 2018, p. 1, doi. 10.1155/2018/3232105
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- Article
A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.
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- Journal of Human Genetics, 2003, v. 48, n. 1, p. 8, doi. 10.1007/s100380300001
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- Article
Gestational diabetes exhibits lack of carnitine deficiency despite relatively low carnitine levels and alterations in ketogenesis.
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- Journal of Maternal-Fetal & Neonatal Medicine, 2005, v. 17, n. 1, p. 63, doi. 10.1080/14767050400028733
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- Article
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
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- Clinical Genetics, 2014, v. 85, n. 2, p. 127, doi. 10.1111/cge.12112
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- Article
Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype–phenotype correlation.
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- 2007
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- Letter
Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency.
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- Clinical Pharmacology & Therapeutics, 2010, v. 88, n. 1, p. 101, doi. 10.1038/clpt.2010.55
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- Article
Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.
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- Human Molecular Genetics, 1999, v. 8, n. 12, p. 2247, doi. 10.1093/hmg/8.12.2247
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- Article
Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 655, doi. 10.1093/hmg/8.4.655
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- Article
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.
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- Nature Genetics, 1999, v. 21, n. 1, p. 91, doi. 10.1038/5030
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- Article
Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency.
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- BJOG: An International Journal of Obstetrics & Gynaecology, 2007, v. 114, n. 8, p. 1028, doi. 10.1111/j.1471-0528.2007.01411.x
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- Article
Primary carnitine deficiency presenting as intractable seizures.
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- Neurology India, 2015, v. 63, n. 2, p. 272, doi. 10.4103/0028-3886.156308
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- Article
Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.
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- Pediatric Gastroenterology, Hepatology & Nutrition, 2016, v. 19, n. 1, p. 76, doi. 10.5223/pghn.2016.19.1.76
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- Article
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-102
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- Article
Myocardial function and energy metabolism in carnitine-deficient rats.
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- Cellular & Molecular Life Sciences, 2003, v. 60, n. 4, p. 767, doi. 10.1007/s00018-003-3011-1
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- Article
Progression of cyclophosphamide-induced acute renal metabolic damage in carnitine-depleted rat model.
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- Clinical & Experimental Nephrology, 2010, v. 14, n. 5, p. 418, doi. 10.1007/s10157-010-0321-0
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- Article
Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.
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- Neurological Sciences, 2015, v. 36, n. 6, p. 853, doi. 10.1007/s10072-015-2197-y
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- Article