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Disorders of carnitine transport and the carnitine cycle
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/(sici)1098-1004(200001)15:1<118::aid-humu28>3.0.co;2-8openalex-snapshot
Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency
inferredcites →https://doi.org/10.1002/(sici)1098-1004(200003)15:3<238::aid-humu4>3.0.co;2-3openalex-snapshot
A missense mutation in the OCTN2 gene associated with residual carnitine transport activity
inferredcites →https://doi.org/10.1002/1098-1004(200011)16:5<401::aid-humu4>3.0.co;2-jopenalex-snapshot
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation
inferredcites →https://doi.org/10.1002/ajmg.10585openalex-snapshot
NovelOCTN2mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy
inferredcites →https://doi.org/10.1002/ajmg.a.20573openalex-snapshot
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation
inferredcites →https://doi.org/10.1002/humu.20085openalex-snapshot
Molecular and functional analysis ofSLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency
inferredcites →https://doi.org/10.1002/humu.20137openalex-snapshot
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in theSLC22A5 gene
inferredcites →https://doi.org/10.1002/humu.20314openalex-snapshot
Pharmacological rescue of carnitine transport in primary carnitine deficiency
inferredcites →https://doi.org/10.1002/humu.9053openalex-snapshot
A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients
inferredcites →https://doi.org/10.1006/abbi.1999.1118openalex-snapshot
Functional Characterization of the Carnitine Transporter Defective in Primary Carnitine Deficiency
inferredcites →https://doi.org/10.1006/bbrc.1999.1060openalex-snapshot
Carnitine Transporter OCTN2 Mutations in Systemic Primary Carnitine Deficiency: A Novel Arg169Gln Mutation and a Recurrent Arg282ter Mutation Associated with an Unconventional Splicing Abnormality
inferredcites →https://doi.org/10.1007/s004390051079openalex-snapshot
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency
inferredcites →https://doi.org/10.1016/j.mam.2004.06.004openalex-snapshot
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects
inferredcites →https://doi.org/10.1016/j.mam.2004.06.007openalex-snapshot
Carnitine?acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects
inferredcites →https://doi.org/10.1016/j.ymgme.2004.02.004openalex-snapshot
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency
inferredcites →https://doi.org/10.1016/j.ymgme.2005.07.022openalex-snapshot
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency
inferredcites →https://doi.org/10.1016/s0146-0005(99)80047-0openalex-snapshot
Primary and secondary alterations of neonatal carnitine metabolism
inferredcites →https://doi.org/10.1016/s1096-7192(02)00169-5openalex-snapshot
Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency
inferredcites →https://doi.org/10.1023/a:1015109127986openalex-snapshot
Screening for Carnitine Palmitoyltransferase II Deficiency by Tandem Mass Spectrometry
inferredcites →https://doi.org/10.1023/a:1020143632011openalex-snapshot
Identification of two novel mutations inOCTN2from two Saudi patients with systemic carnitine deficiency
inferredcites →https://doi.org/10.1023/a:1025968502527openalex-snapshot
Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2
inferredcites →https://doi.org/10.1023/b:boli.0000042979.42120.55openalex-snapshot
Successful long‐term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation
inferredcites →https://doi.org/10.1023/b:boli.0000045837.23328.f4openalex-snapshot
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy
inferredcites →https://doi.org/10.1038/5030openalex-snapshot
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
inferredcites →https://doi.org/10.1067/mpd.2001.111813openalex-snapshot
Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry
inferredcites →https://doi.org/10.1073/pnas.96.5.2356openalex-snapshot
Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency
inferredcites →https://doi.org/10.1074/jbc.m309171200openalex-snapshot
Tyrosine Residues Affecting Sodium Stimulation of Carnitine Transport in the OCTN2 Carnitine/Organic Cation Transporter
inferredcites →https://doi.org/10.1093/clinchem/47.10.1763openalex-snapshot
Hepatic Carnitine Palmitoyltransferase I Deficiency: Acylcarnitine Profiles in Blood Spots Are Highly Specific
inferredcites →https://doi.org/10.1093/hmg/8.12.2247openalex-snapshot
Genetic Epidemiology of the Carnitine Transporter OCTN2 Gene in a Japanese Population and Phenotypic Characterization in Japanese Pedigrees with Primary Systemic Carnitine Deficiency
inferredcites →https://doi.org/10.1093/hmg/8.4.655openalex-snapshot
Mutations of OCTN2, an Organic Cation/Carnitine Transporter, Lead to Deficient Cellular Carnitine Uptake in Primary Carnitine Deficiency
inferredcites →https://doi.org/10.1097/00125817-199811000-00008openalex-snapshot
Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency
inferredcites →https://doi.org/10.1097/00125817-200111000-00002openalex-snapshot
Phenotype and genotype variation in primary carnitine deficiency
inferredcites →https://doi.org/10.1172/jci111281openalex-snapshot
Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport.
inferredcites →https://doi.org/10.1177/088307389501000107openalex-snapshot
Neuropathology of Propionic Acidemia: A Report of Two Patients With Basal Ganglia Lesions
inferredcites →https://doi.org/10.1177/0883073895010002s04openalex-snapshot
Carnitine in Neonatal Nutrition
inferredcites →https://doi.org/10.1196/annals.1320.003openalex-snapshot
Kinetics, Pharmacokinetics, and Regulation of l‐Carnitine and Acetyl‐l‐carnitine Metabolism
inferredcites →https://doi.org/10.1196/annals.1320.004openalex-snapshot
Carnitine Deficiency Disorders in Children
inferredcites →https://doi.org/10.1212/01.wnl.0000078195.05396.20openalex-snapshot
Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency
inferredcites →https://doi.org/10.1542/peds.107.6.e103openalex-snapshot
Detection of Neonatal Carnitine Palmitoyltransferase II Deficiency by Expanded Newborn Screening With Tandem Mass Spectrometry
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.2139/ssrn.4684168openalex-extracted
Growth Performance, Flesh Fatty Acid Profile and Transcriptome Analyses Reveal Altered Metabolic Patterns in Hybrid Jinhu Grouper (Epinephelus Fuscoguttatus ♀ × Epinephelus Tukula ♂) Adapting to Deeper-Offshore Aquaculture Systems
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Fatty Acid Oxidation Disorders
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Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies
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Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies
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Fatty Acid Mitochondrial Disorders
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Basic Anatomy and Physiology of the Heart, and Coronary and Peripheral Circulations
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Mechanisms of Toxicity in Fatty Acid Oxidation Disorders
inferred← citeshttps://doi.org/10.1002/advs.202514668openalex-snapshot
Fluorinated Carnitine Derivatives as Tools to Visualise Carnitine Transport and Metabolism
inferred← citeshttps://doi.org/10.1002/ajmg.a.64268openalex-snapshot
Identification of Novel and Rare Gene Variants in Cleft Lip/Palate Patients From Kuwaiti Consanguineous Families by Exome Sequencing
inferred← citeshttps://doi.org/10.1002/ajmg.c.30085openalex-snapshot
Inborn errors of metabolism: New challenges with expanded newborn screening programs
inferred← citeshttps://doi.org/10.1002/ajmg.c.30290openalex-snapshot
Newborn screening and inborn errors of metabolism
inferred← citeshttps://doi.org/10.1002/bdd.1816openalex-snapshot
Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21)
inferred← citeshttps://doi.org/10.1002/cphg.85openalex-snapshot
Analytical Methods for Quantitative Plasma Carnitine Determination
inferred← citeshttps://doi.org/10.1002/elps.201200276openalex-snapshot
Feasibility of electroextraction as versatile sample preconcentration for fast and sensitive analysis of urine metabolites, demonstrated on acylcarnitines
inferred← citeshttps://doi.org/10.1002/humu.21607openalex-snapshot
Genotype-phenotype correlation in primary carnitine deficiency
inferred← citeshttps://doi.org/10.1002/humu.23315openalex-snapshot
Functional and molecular studies in primary carnitine deficiency
inferred← citeshttps://doi.org/10.1002/jcb.25062openalex-snapshot
BHBA Influences Bovine Hepatic Lipid Metabolism via AMPK Signaling Pathway
inferred← citeshttps://doi.org/10.1002/jimd.12158openalex-snapshot
Increased risk of sudden death in untreated primary carnitine deficiency
inferred← citeshttps://doi.org/10.1002/jimd.12312openalex-snapshot
The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria
inferred← citeshttps://doi.org/10.1002/jimd.12313openalex-snapshot
Effects of triheptanoin ( UX007 ) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label , long‐term extension study
inferred← citeshttps://doi.org/10.1002/jimd.12371openalex-snapshot
New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches
inferred← citeshttps://doi.org/10.1002/jimd.12537openalex-snapshot
Plasma carnitine concentrations in Medium‐chain acyl‐CoA dehydrogenase deficiency: lessons from an observational cohort study
inferred← citeshttps://doi.org/10.1002/jimd.12768openalex-snapshot
The therapeutic landscape of citrin deficiency
inferred← citeshttps://doi.org/10.1002/jimd.12819openalex-snapshot
Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders
inferred← citeshttps://doi.org/10.1002/jmd2.12152openalex-snapshot
Use of skimmed breast milk for an infant with a long‐chain fatty acid oxidation disorder: A novel therapeutic intervention
inferred← citeshttps://doi.org/10.1002/jmd2.12319openalex-snapshot
Primary carnitine deficiency is a life‐long disease
inferred← citeshttps://doi.org/10.1002/jmd2.12334openalex-snapshot
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns
inferred← citeshttps://doi.org/10.1002/jmd2.12346openalex-snapshot
Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation
inferred← citeshttps://doi.org/10.1002/jmd2.12383openalex-snapshot
Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands
inferred← citeshttps://doi.org/10.1002/lipd.70021openalex-snapshot
Long‐Chain Fatty Acid Beta‐Oxidation Defects: A Case Series and Literature Review
inferred← citeshttps://doi.org/10.1002/lt.22118openalex-snapshot
Recurrent liver failure in a 25-year-old female
inferred← citeshttps://doi.org/10.1002/mgg3.901openalex-snapshot
Molecular investigation in Chinese patients with primary carnitine deficiency
inferred← citeshttps://doi.org/10.1002/mnfr.202300398openalex-snapshot
Metabolomic and Transcriptomic Analysis of Effects of Three MUFA‐Rich Oils on Hepatic Glucose and Lipid Metabolism in Mice
inferred← citeshttps://doi.org/10.1002/nbm.1352openalex-snapshot
Cardiac effects of MDMA on the metabolic profile determined with 1H‐magnetic resonance spectroscopy in the rat
inferred← citeshttps://doi.org/10.1002/osp4.460openalex-snapshot
α‐Tocopherol suppresses hepatic steatosis by increasing CPT‐1 expression in a mouse model of diet‐induced nonalcoholic fatty liver disease
inferred← citeshttps://doi.org/10.1002/pd.6301openalex-snapshot
Maternal metabolomic profiling and congenital heart disease risk in offspring: A systematic review of observational studies
inferred← citeshttps://doi.org/10.1002/pul2.12107openalex-snapshot
l ‐Carnitine therapy improves right heart dysfunction through Cpt1‐dependent fatty acid oxidation
inferred← citeshttps://doi.org/10.1007/8904_2011_36openalex-snapshot
Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency
inferred← citeshttps://doi.org/10.1007/8904_2012_198openalex-snapshot
Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency
inferred← citeshttps://doi.org/10.1007/8904_2014_398openalex-snapshot
Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation
inferred← citeshttps://doi.org/10.1007/8904_2016_30openalex-snapshot
Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?
inferred← citeshttps://doi.org/10.1007/978-1-0716-2565-1_9openalex-snapshot
Quantification of Free and Total Carnitine in Serum Using Liquid Chromatography Tandem Mass Spectrometry
inferred← citeshttps://doi.org/10.1007/978-1-4020-8831-5_1openalex-snapshot
Transcriptional Regulation of Hepatic Fatty Acid Metabolism
inferred← citeshttps://doi.org/10.1007/978-1-61779-530-5_8openalex-snapshot
Newborn Screening for Metabolic Disorders
inferred← citeshttps://doi.org/10.1007/978-3-030-27371-2_3openalex-snapshot
Genetic Basis of Mitochondrial Cardiomyopathy
inferred← citeshttps://doi.org/10.1007/978-3-030-67727-5_48openalex-snapshot
Mitochondrial Fatty Acid Oxidation Disorders
inferred← citeshttps://doi.org/10.1007/978-3-030-69677-1_2-1openalex-snapshot
Potential Food Nutraceutical Ingredients
inferred← citeshttps://doi.org/10.1007/978-3-030-94510-7_22openalex-snapshot
Fatty Acid Oxidation Disorders
inferred← citeshttps://doi.org/10.1007/978-3-030-94510-7_7openalex-snapshot
Laboratory Evaluations in Inherited Metabolic Diseases
inferred← citeshttps://doi.org/10.1007/978-3-031-97759-6_28openalex-snapshot
Carnitine in Pediatric Nutrition
inferred← citeshttps://doi.org/10.1007/978-3-031-98791-5_2openalex-snapshot
Potential Food Nutraceutical Ingredients
inferred← citeshttps://doi.org/10.1007/978-3-319-14621-8_8openalex-snapshot
Laboratory Evaluations in Inherited Metabolic Diseases
inferred← citeshttps://doi.org/10.1007/978-3-319-31143-2_108-1openalex-snapshot
Methylation in CPT1A, Lipoproteins, and Epigenetics
inferred← citeshttps://doi.org/10.1007/978-3-319-55530-0_108openalex-snapshot
Methylation in CPT1A, Lipoproteins, and Epigenetics
inferred← citeshttps://doi.org/10.1007/978-3-319-66816-1_1329-1openalex-snapshot
Carnitine Palmitoyltransferase Deficiency
inferred← citeshttps://doi.org/10.1007/978-3-540-29676-8_288openalex-snapshot
Carnitine Deficiency (without Transport and Uptake)
inferred← citeshttps://doi.org/10.1007/978-3-540-29676-8_3124openalex-snapshot
Carnitine Deficiency, Primary
inferred← citeshttps://doi.org/10.1007/978-981-13-1462-9_12openalex-snapshot
Metabolic Myopathies and Related Diseases
inferred← citeshttps://doi.org/10.1007/978-981-13-2297-6_6openalex-snapshot
Metabolic Autopsy and Molecular Autopsy in Sudden Unexpected Death in Infancy
inferred← citeshttps://doi.org/10.1007/978-981-95-7797-2_5openalex-snapshot
What Are Carnitine Deficiency and Carnitine Insufficiency?
inferred← citeshttps://doi.org/10.1007/s00109-024-02510-zopenalex-snapshot
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry
inferred← citeshttps://doi.org/10.1007/s00204-008-0330-xopenalex-snapshot
Carnitine deficiency: a possible risk factor in paracetamol hepatotoxicity
inferred← citeshttps://doi.org/10.1007/s00204-014-1341-4openalex-snapshot
The influence of chronic l-carnitine supplementation on the formation of preneoplastic and atherosclerotic lesions in the colon and aorta of male F344 rats
inferred← citeshttps://doi.org/10.1007/s00216-012-5782-4openalex-snapshot
Serum metabolomics reveals the deregulation of fatty acids metabolism in hepatocellular carcinoma and chronic liver diseases
inferred← citeshttps://doi.org/10.1007/s00216-012-6532-3openalex-snapshot
Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1
inferred← citeshttps://doi.org/10.1007/s00246-007-9051-9openalex-snapshot
Carnitine Membrane Transporter Deficiency: A Rare Treatable Cause of Cardiomyopathy and Anemia
inferred← citeshttps://doi.org/10.1007/s00246-022-03003-xopenalex-snapshot
Effect of Carnitine Supplementation in Pediatric Patients with Left Ventricular Dysfunction
inferred← citeshttps://doi.org/10.1007/s00247-026-06796-8openalex-snapshot
Don’t miss this treatable neurogenetic disease!
inferred← citeshttps://doi.org/10.1007/s00253-015-6561-xopenalex-snapshot
Reconstruction of the carnitine biosynthesis pathway from Neurospora crassa in the yeast Saccharomyces cerevisiae
inferred← citeshttps://doi.org/10.1007/s00393-012-1082-9openalex-snapshot
Metabolische und mitochondriale Myopathien
inferred← citeshttps://doi.org/10.1007/s00394-019-02068-4openalex-snapshot
Does l-carnitine supplementation affect serum levels of enzymes mainly produced by liver? A systematic review and meta-analysis of randomized controlled clinical trials
inferred← citeshttps://doi.org/10.1007/s00395-023-01017-xopenalex-snapshot
Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome
inferred← citeshttps://doi.org/10.1007/s00467-009-1223-9openalex-snapshot
Rhabdomyolysis: a review, with emphasis on the pediatric population
inferred← citeshttps://doi.org/10.1007/s00467-009-1388-2openalex-snapshot
Hypokalemic rhabdomyolysis in congenital tubular disorders: a case series and a systematic review
inferred← citeshttps://doi.org/10.1007/s10072-012-0952-xopenalex-snapshot
Serum carnitine levels and levocarnitine supplementation in institutionalized Huntington’s disease patients
inferred← citeshttps://doi.org/10.1007/s10545-009-0926-1openalex-snapshot
Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency
inferred← citeshttps://doi.org/10.1007/s10545-009-1202-0openalex-snapshot
Adult presentations of medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD)
inferred← citeshttps://doi.org/10.1007/s10545-012-9488-8openalex-snapshot
Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events
inferred← citeshttps://doi.org/10.1007/s10545-013-9606-2openalex-snapshot
Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands
inferred← citeshttps://doi.org/10.1007/s10545-013-9640-0openalex-snapshot
Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening
inferred← citeshttps://doi.org/10.1007/s10545-016-0004-4openalex-snapshot
Long‐term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease
inferred← citeshttps://doi.org/10.1007/s10549-011-1925-0openalex-snapshot
SLC22A5/OCTN2 expression in breast cancer is induced by estrogen via a novel intronic estrogen-response element (ERE)
inferred← citeshttps://doi.org/10.1007/s10557-016-6647-4openalex-snapshot
A Moderate Carnitine Deficiency Exacerbates Isoproterenol-Induced Myocardial Injury in Rats
inferred← citeshttps://doi.org/10.1007/s10646-018-1943-3openalex-snapshot
Investigation of the molecular mechanisms of hepatic injury upon naphthalene exposure in zebrafish (Danio rerio)
inferred← citeshttps://doi.org/10.1007/s10735-011-9326-6openalex-snapshot
The possible role of L-carnitine on the skeletal muscle of ovariectomized rats
inferred← citeshttps://doi.org/10.1007/s11033-022-08152-zopenalex-snapshot
Evaluation of the gene encoding carnitine transporter (OCTN2/SLC22A5) expression in human breast cancer and its association with clinicopathological characteristics
inferred← citeshttps://doi.org/10.1007/s11064-017-2288-7openalex-snapshot
l-Carnitine and Acetyl-l-carnitine Roles and Neuroprotection in Developing Brain
inferred← citeshttps://doi.org/10.1007/s11064-023-04000-zopenalex-snapshot
L-carnitine and Acetyl-L Carnitine: A Possibility for Treating Alterations Induced by Obesity in the Central Nervous System
inferred← citeshttps://doi.org/10.1007/s11154-018-9448-1openalex-snapshot
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle
inferred← citeshttps://doi.org/10.1007/s11154-020-09568-3openalex-snapshot
Clinical manifestations and management of fatty acid oxidation disorders
inferred← citeshttps://doi.org/10.1007/s11306-020-01712-zopenalex-snapshot
Distinct serum metabolomic signatures of multiparous and primiparous dairy cows switched from a moderate to high-grain diet during early lactation
inferred← citeshttps://doi.org/10.1007/s11356-017-0624-8openalex-snapshot
Testicular toxicity and sperm quality following copper exposure in Wistar albino rats: ameliorative potentials of L-carnitine
inferred← citeshttps://doi.org/10.1007/s11910-010-0096-4openalex-snapshot
A Diagnostic Algorithm for Metabolic Myopathies
inferred← citeshttps://doi.org/10.1007/s11916-021-00936-5openalex-snapshot
Carnitine Responsive Migraine Headache Syndrome: Case Report and Review of the Literature
inferred← citeshttps://doi.org/10.1007/s11940-017-0473-2openalex-snapshot
Treatment Opportunities in Patients With Metabolic Myopathies
inferred← citeshttps://doi.org/10.1007/s12013-026-02071-7openalex-snapshot
Comparative Transcriptome Analysis Reveals Tissue-Specific Expression and Conservation of Mitochondrial Metal and Cofactor Genes in Buffalo
inferred← citeshttps://doi.org/10.1007/s12033-012-9586-8openalex-snapshot
Strategies of Bacterial Over Expression of Membrane Transporters Relevant in Human Health: The Successful Case of the Three Members of OCTN Subfamily
inferred← citeshttps://doi.org/10.1007/s12035-015-9238-7openalex-snapshot
The Carnitine Palmitoyl Transferase (CPT) System and Possible Relevance for Neuropsychiatric and Neurological Conditions
inferred← citeshttps://doi.org/10.1007/s12170-016-0513-6openalex-snapshot
Epigenetics of Lipid Phenotypes
inferred← citeshttps://doi.org/10.1007/s12672-024-01069-yopenalex-snapshot
Role of lipid metabolism in hepatocellular carcinoma
inferred← citeshttps://doi.org/10.1007/s13361-016-1544-4openalex-snapshot
Prognostic Metabolite Biomarkers for Soft Tissue Sarcomas Discovered by Mass Spectrometry Imaging
inferred← citeshttps://doi.org/10.1007/s13730-023-00804-8openalex-snapshot
Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury
inferred← citeshttps://doi.org/10.1007/s40005-023-00659-2openalex-snapshot
Impact of 1α,25-dihydroxyvitamin D3 on biodistribution and pharmacokinetics of L-carnitine and creatinine, organic cation/carnitine transporter 2 and organic cation transporter 2 biomarkers
inferred← citeshttps://doi.org/10.1016/b978-0-12-373891-2.00083-3openalex-snapshot
Isohumulones from Beer Modulate Blood Lipid Status
inferred← citeshttps://doi.org/10.1016/b978-0-12-383834-6.00102-6openalex-snapshot
Organic Acidemias and Disorders of Fatty Acid Oxidation
inferred← citeshttps://doi.org/10.1016/b978-0-12-384878-9.00010-8openalex-snapshot
Modeling Disorders of Fatty Acid Metabolism in the Mouse
inferred← citeshttps://doi.org/10.1016/b978-0-12-397803-5.00019-8openalex-snapshot
Aging and Anti-Aging in Hair and Hair Loss
inferred← citeshttps://doi.org/10.1016/b978-0-12-410529-4.00050-4openalex-snapshot
Disorders of Lipid Metabolism
inferred← citeshttps://doi.org/10.1016/b978-0-12-800040-3.00005-4openalex-snapshot
Dilated Cardiomyopathy and Cardioskeletal Involvement
inferred← citeshttps://doi.org/10.1016/b978-0-12-800040-3.00013-3openalex-snapshot
Mitochondrial Disorders Causing Cardioskeletal Myopathies in Childhood
inferred← citeshttps://doi.org/10.1016/b978-0-12-800094-6.00006-6openalex-snapshot
Pediatric Hypoglycemia
inferred← citeshttps://doi.org/10.1016/b978-0-12-812535-9.00008-xopenalex-snapshot
Organic Acidemias and Disorders of Fatty Acid Oxidation
inferred← citeshttps://doi.org/10.1016/b978-0-12-813955-4.00054-4openalex-snapshot
Disorders of lipid metabolism
inferred← citeshttps://doi.org/10.1016/b978-0-12-824356-5.00004-7openalex-snapshot
An overview on metabolic disorders and current therapy
inferred← citeshttps://doi.org/10.1016/b978-0-12-824412-8.00006-0openalex-snapshot
Nutrigenomics in the management and prevention of metabolic disorders
inferred← citeshttps://doi.org/10.1016/b978-0-323-05371-6.00015-2openalex-snapshot
Oxidative Metabolism of Lipids in Liver and Muscle
inferred← citeshttps://doi.org/10.1016/b978-0-323-40139-5.00022-xopenalex-snapshot
Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism
inferred← citeshttps://doi.org/10.1016/b978-0-323-42876-7.00033-8openalex-snapshot
Muscle Involvement and Restricted Disorders
inferred← citeshttps://doi.org/10.1016/b978-0-323-43044-9.00079-0openalex-snapshot
Fatty Acid Metabolism
inferred← citeshttps://doi.org/10.1016/b978-0-323-67293-1.00071-2openalex-snapshot
Mitochondrial Hepatopathies
inferred← citeshttps://doi.org/10.1016/b978-0-323-71317-7.00023-8openalex-snapshot
Treatment and Management of Hereditary Metabolic Myopathies
inferred← citeshttps://doi.org/10.1016/b978-0-323-82823-9.00029-5openalex-snapshot
Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism
inferred← citeshttps://doi.org/10.1016/b978-0-443-10513-5.00037-1openalex-snapshot
Muscle Involvement and Restricted Disorders
inferred← citeshttps://doi.org/10.1016/b978-0-443-11760-2.00072-0openalex-snapshot
Mitochondrial Hepatopathies: Disorders of Fatty Acid Oxidation and the Respiratory Chain
inferred← citeshttps://doi.org/10.1016/b978-0-443-19176-3.00050-9openalex-snapshot
Disorders of lipid metabolism
inferred← citeshttps://doi.org/10.1016/b978-0-443-41379-7.00003-2openalex-snapshot
Disorders of the carnitine cycle and mitochondrial fatty acid oxidation
inferred← citeshttps://doi.org/10.1016/b978-1-4160-3995-2.10019-6openalex-snapshot
Neuromuscular Disorders: Muscle Involvement and Restricted Disorders
inferred← citeshttps://doi.org/10.1016/b978-1-4160-6164-9.00058-5openalex-snapshot
Newborn Screening and Inborn Errors of Metabolism
inferred← citeshttps://doi.org/10.1016/b978-1-4377-0372-6.00022-0openalex-snapshot
Treatment and Management of Hereditary Metabolic Myopathies
inferred← citeshttps://doi.org/10.1016/b978-1-4377-0755-7.00080-4openalex-snapshot
Defects in Metabolism of Lipids
inferred← citeshttps://doi.org/10.1016/b978-141604090-3.50010-7openalex-snapshot
Hypoglycemia in Neonates and Infants
inferred← citeshttps://doi.org/10.1016/b978-84-8086-959-1.00080-8openalex-snapshot
10.1016/b978-84-8086-959-1.00080-8
inferred← citeshttps://doi.org/10.1016/bs.acc.2014.09.002openalex-snapshot
Ammonia Metabolism and Hyperammonemic Disorders
inferred← citeshttps://doi.org/10.1016/j.abb.2013.04.009openalex-snapshot
Clinical and biochemical aspects of primary and secondary hyperammonemic disorders
inferred← citeshttps://doi.org/10.1016/j.ajog.2014.03.056openalex-snapshot
Metabolomic prediction of fetal congenital heart defect in the first trimester
inferred← citeshttps://doi.org/10.1016/j.ancard.2011.12.006openalex-snapshot
Une cause de cardiomyopathie dilatée chez l’enfant : le déficit primaire en carnitine
inferred← citeshttps://doi.org/10.1016/j.aqrep.2025.102794openalex-snapshot
Growth performance, flesh fatty acid profile and transcriptome analyses of hybrid Jinhu grouper (Epinephelus fuscoguttatus ♀ × Epinephelus tukula ♂) cultured in Deeper-Offshore Aquaculture System
inferred← citeshttps://doi.org/10.1016/j.aquaculture.2026.744038openalex-snapshot
Tributyrin promotes growth in sea cucumber (Apostichopus japonicus) by modulating host-gut bacterial community co-metabolism
inferred← citeshttps://doi.org/10.1016/j.arcped.2023.09.005openalex-snapshot
Implementation of a “hypoglycemia kit” in a pediatric emergency room: A retrospective study during 2011–2019
inferred← citeshttps://doi.org/10.1016/j.bbacli.2017.07.003openalex-snapshot
Spontaneous miscarriage in first trimester pregnancy is associated with altered urinary metabolite profile
inferred← citeshttps://doi.org/10.1016/j.bbadis.2009.09.001openalex-snapshot
Failure of the feeding response to fasting in carnitine-deficient juvenile visceral steatosis (JVS) mice: Involvement of defective acyl-ghrelin secretion and enhanced corticotropin-releasing factor signaling in the hypothalamus
inferred← citeshttps://doi.org/10.1016/j.bbadis.2010.06.002openalex-snapshot
Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling
inferred← citeshttps://doi.org/10.1016/j.bbadis.2010.11.007openalex-snapshot
Glycosylation of the OCTN2 carnitine transporter: Study of natural mutations identified in patients with primary carnitine deficiency
inferred← citeshttps://doi.org/10.1016/j.bbadis.2015.01.011openalex-snapshot
Palmitoyl-carnitine increases RyR2 oxidation and sarcoplasmic reticulum Ca2+ leak in cardiomyocytes: Role of adenine nucleotide translocase
inferred← citeshttps://doi.org/10.1016/j.bbadis.2020.165720openalex-snapshot
Metabolic interactions between peroxisomes and mitochondria with a special focus on acylcarnitine metabolism
inferred← citeshttps://doi.org/10.1016/j.bbagen.2016.03.021openalex-snapshot
Wide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporter
inferred← citeshttps://doi.org/10.1016/j.bbalip.2009.11.007openalex-snapshot
Intramuscular triacylglycerol and insulin resistance: Guilty as charged or wrongly accused?
inferred← citeshttps://doi.org/10.1016/j.bbalip.2012.10.007openalex-snapshot
A high-fat diet increases l-carnitine synthesis through a differential maturation of the Bbox1 mRNAs
inferred← citeshttps://doi.org/10.1016/j.bbamcr.2016.01.023openalex-snapshot
Carnitine transport and fatty acid oxidation
inferred← citeshttps://doi.org/10.1016/j.bbamem.2015.04.001openalex-snapshot
Functional characterization of the organic cation transporters (OCTs) in human airway pulmonary epithelial cells
inferred← citeshttps://doi.org/10.1016/j.bbamem.2015.11.013openalex-snapshot
Functional activity of L-carnitine transporters in human airway epithelial cells
inferred← citeshttps://doi.org/10.1016/j.bbrc.2013.07.020openalex-snapshot
The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders
inferred← citeshttps://doi.org/10.1016/j.bcp.2011.08.008openalex-snapshot
Functional analysis of pharmacogenetic variants of human organic cation/carnitine transporter 2 (hOCTN2) identified in Singaporean populations
inferred← citeshttps://doi.org/10.1016/j.bcp.2024.116565openalex-snapshot
Carnitine traffic and human fertility
inferred← citeshttps://doi.org/10.1016/j.braindev.2013.07.011openalex-snapshot
Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy
inferred← citeshttps://doi.org/10.1016/j.braindev.2014.03.012openalex-snapshot
Carnitine in severely disabled patients: Relation to anthropometric, biochemical variables, and nutritional intake
inferred← citeshttps://doi.org/10.1016/j.cca.2017.08.029openalex-snapshot
Neonatal screening parameters in infants with congenital Cytomegalovirus infection
inferred← citeshttps://doi.org/10.1016/j.cca.2020.11.005openalex-snapshot
Newborn screening for primary carnitine deficiency in Quanzhou, China
inferred← citeshttps://doi.org/10.1016/j.cca.2026.121122openalex-snapshot
CircRNAs as central regulators of Immunometabolic crosstalk in hepatocellular carcinoma
inferred← citeshttps://doi.org/10.1016/j.celrep.2014.12.023openalex-snapshot
Adipose Fatty Acid Oxidation Is Required for Thermogenesis and Potentiates Oxidative Stress-Induced Inflammation
inferred← citeshttps://doi.org/10.1016/j.celrep.2016.05.062openalex-snapshot
Hepatic Fatty Acid Oxidation Restrains Systemic Catabolism during Starvation
inferred← citeshttps://doi.org/10.1016/j.celrep.2018.05.035openalex-snapshot
CPT1a-Dependent Long-Chain Fatty Acid Oxidation Contributes to Maintaining Glucagon Secretion from Pancreatic Islets
inferred← citeshttps://doi.org/10.1016/j.chemphyslip.2013.12.009openalex-snapshot
The functions of cardiolipin in cellular metabolism–potential modifiers of the Barth syndrome phenotype
inferred← citeshttps://doi.org/10.1016/j.clinbiochem.2025.110928openalex-snapshot
Plasma trimethylamine levels predict adverse cardiovascular events in sudden cardiac arrest Survivors: A prospective cohort study
inferred← citeshttps://doi.org/10.1016/j.clinsp.2024.100522openalex-snapshot
Metabolomics in juvenile idiopathic arthritis: A distinct profile in patients under methotrexate
inferred← citeshttps://doi.org/10.1016/j.cmet.2017.08.006openalex-snapshot
Global Analysis of Plasma Lipids Identifies Liver-Derived Acylcarnitines as a Fuel Source for Brown Fat Thermogenesis
inferred← citeshttps://doi.org/10.1016/j.ddmec.2009.02.001openalex-snapshot
Carnitine homeostasis, mitochondrial function and cardiovascular disease
inferred← citeshttps://doi.org/10.1016/j.ecoenv.2024.117475openalex-snapshot
Hepatic injury and metabolic perturbations in mice exposed to perfluorodecanoic acid revealed by metabolomics and lipidomics
inferred← citeshttps://doi.org/10.1016/j.ejmg.2014.08.001openalex-snapshot
Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency
inferred← citeshttps://doi.org/10.1016/j.ejphar.2018.06.034openalex-snapshot
Molecular mechanism of diabetic neuropathy and its pharmacotherapeutic targets
inferred← citeshttps://doi.org/10.1016/j.fct.2012.09.024openalex-snapshot
Cassia tora (Leguminosae) seed extract alleviates high-fat diet-induced nonalcoholic fatty liver
inferred← citeshttps://doi.org/10.1016/j.fertnstert.2009.01.104openalex-snapshot
Mitochondrial fatty acid transport enzyme deficiency—implications for in vitro fertilization
inferred← citeshttps://doi.org/10.1016/j.foodchem.2012.09.017openalex-snapshot
Reduction of lipid accumulation in white adipose tissues by Cassia tora (Leguminosae) seed extract is associated with AMPK activation
inferred← citeshttps://doi.org/10.1016/j.forsciint.2017.06.020openalex-snapshot
Sudden infant death from neonate carnitine palmitoyl transferase II deficiency
inferred← citeshttps://doi.org/10.1016/j.freeradbiomed.2020.04.010openalex-snapshot
Altered proximal tubule fatty acid utilization, mitophagy, fission and supercomplexes arrangement in experimental Fanconi syndrome are ameliorated by sulforaphane-induced mitochondrial biogenesis
inferred← citeshttps://doi.org/10.1016/j.fsi.2017.07.058openalex-snapshot
Inhibited fatty acid β-oxidation impairs stress resistance ability in Nile tilapia (Oreochromis niloticus)
inferred← citeshttps://doi.org/10.1016/j.gene.2013.03.086openalex-snapshot
Single nucleotide polymorphism in CPT1B and CPT2 genes and its association with blood carnitine levels in acute myocardial infarction patients
inferred← citeshttps://doi.org/10.1016/j.hrcr.2026.03.027openalex-snapshot
A novel presentation of SLC30A6 mutation-mediated cardiac conduction disease in the neonate
inferred← citeshttps://doi.org/10.1016/j.ijcard.2014.03.190openalex-snapshot
Primary carnitine deficiency cardiomyopathy
inferred← citeshttps://doi.org/10.1016/j.jacc.2015.10.079openalex-snapshot
Prognostic Implications of Long-Chain Acylcarnitines in Heart Failure and Reversibility With Mechanical Circulatory Support
inferred← citeshttps://doi.org/10.1016/j.jhep.2018.02.006openalex-snapshot
Paediatric fatty liver disease (PeFLD): All is not NAFLD – Pathophysiological insights and approach to management
inferred← citeshttps://doi.org/10.1016/j.jiac.2019.04.020openalex-snapshot
Primary carnitine deficiency with severe acute hepatitis following rotavirus gastroenteritis
inferred← citeshttps://doi.org/10.1016/j.jlr.2021.100069openalex-snapshot
Octanoate is differentially metabolized in liver and muscle and fails to rescue cardiomyopathy in CPT2 deficiency
inferred← citeshttps://doi.org/10.1016/j.jlr.2026.101055openalex-snapshot
Carnitine deficiency alters fuel metabolism and voluntary wheel running in mice
inferred← citeshttps://doi.org/10.1016/j.jpba.2015.08.009openalex-snapshot
LC/MS-based polar metabolite profiling reveals gender differences in serum from patients with myocardial infarction
inferred← citeshttps://doi.org/10.1016/j.jpeds.2013.07.010openalex-snapshot
Association of a Genetic Variant of Carnitine Palmitoyltransferase 1A with Infections in Alaska Native Children
inferred← citeshttps://doi.org/10.1016/j.mad.2020.111405openalex-snapshot
Novel metabolomics markers are associated with pre-clinical decline in hand grip strength in community-dwelling older adults
inferred← citeshttps://doi.org/10.1016/j.mce.2020.110804openalex-snapshot
Anti-steatotic linagliptin pleiotropic effects encompasses suppression of de novo lipogenesis and ER stress in high-fat-fed mice
inferred← citeshttps://doi.org/10.1016/j.metabol.2012.07.007openalex-snapshot
Ammonium metabolism in humans
inferred← citeshttps://doi.org/10.1016/j.metabol.2022.155292openalex-snapshot
Imipramine activates FAM3A-FOXA2-CPT2 pathway to ameliorate hepatic steatosis
inferred← citeshttps://doi.org/10.1016/j.molcel.2025.10.017openalex-snapshot
An orphan no more: SLC25A45 controls mitochondrial import of methylated amino acids
inferred← citeshttps://doi.org/10.1016/j.molmet.2023.101857openalex-snapshot
Molecular profiling of high-level athlete skeletal muscle after acute endurance or resistance exercise – A systems biology approach
inferred← citeshttps://doi.org/10.1016/j.molmet.2024.102016openalex-snapshot
Imatinib therapy of chronic myeloid leukemia significantly reduces carnitine cell intake, resulting in adverse events
inferred← citeshttps://doi.org/10.1016/j.neo.2026.101299openalex-snapshot
BPGM as an intrinsic brake to constrain metastasis through phospho-epigenetic-mediated carnitine biosynthesis suppression
inferred← citeshttps://doi.org/10.1016/j.neurol.2010.08.015openalex-snapshot
Traitement par L-Carnitine et mauvaise odeur corporelle : un effet secondaire à connaître
inferred← citeshttps://doi.org/10.1016/j.neurot.2023.11.001openalex-snapshot
A clinical approach to diagnosis and management of mitochondrial myopathies
inferred← citeshttps://doi.org/10.1016/j.nmd.2021.08.005openalex-snapshot
Primary mitochondrial myopathies in childhood
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