• A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy
• A hereditary case of lipid storage myopathy with carnitine deficiency. Ultrastructural observation of muscle tissue in parents
• Acquired carnitine abnormalities in critically ill children
• Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD)
• Altered tissue carnitine levels in animals with hereditary muscular dystrophy
• An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test
• Analysis of screening results for genetic metabolic diseases among 352 449 newborns from Changsha
• Apparently idiopathic primary myocardiopathies in children. The role of metabolic etiology
• ATP degradation products after ischemic exercise: hereditary lack of phosphorylase or carnitine palmityltransferase
• Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy
• Carnitine metabolism and human carnitine deficiency
• Carnitine Palmitoyltransferase II Deficiency
• Carnitine transporter deficiency is a hereditary disease with a high incidence in the Faroe Islands
• Characteristics of cardiac hypertrophy in the juvenile visceral steatosis mouse with systemic carnitine deficiency
• Childhood-Onset Progressive Dystonia With Mitochondrial DNA G14459A Mutation: Efficacy of Long-Term Sodium Succinate Treatment
• Cholinergic systems in muscle and brain in vitamin E-deficient rats
• Clinical demonstrations of hereditary disorders of metabolism
• Clinical Therapeutic Management of Human Mitochondrial Disorders
• Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency
• Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience
• Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities
• Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q
• Familial spastic paraparesis: a case of a mitochondrial disorder
• Fever, Fasting, and Rhabdomyolysis in an Adult Male
• Gene-dose effect on carnitine transport activity in embryonic fibroblasts of JVS mice as a model of human carnitine transporter deficiency
• Genetic deficiency of carnitine/organic cation transporter 2 (slc22a5) is associated with altered tissue distribution of its substrate pyrilamine in mice
• Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients
• Hereditary carnitine deficiency of muscle
• Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts
• Hereditary metabolic muscular diseases caused by demonstrable enzyme defect
• Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a tertiary care center
• Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy
• Homozygous B4GALNT1 mutation and biochemical glutaric acidemia type II: A case report
• Identification of human CDV-1R and mouse Cdv-1R, two novel proteins with putative signal peptides, especially highly expressed in testis and increased with the male sex maturation
• Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency
• Identification of Six Novel Variants of <em>ACAD8</em> in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing
• Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing
• Involvement of carnitine/organic cation transporter OCTN2 (SLC22A5) in distribution of its substrate carnitine to the heart
• Lack of effect of L-carnitine supplementation on weight gain in very preterm infants
• Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria
• Long-term follow-up of a new case of liver glycogen synthase deficiency
• Metabolic cardiomyopathies
• Metabolic disorders mimicking Reye's syndrome
• Metabolic myopathies in childhood. A review in summarized form
• Metabolic Serendipities of Expanded Newborn Screening
• Mitochondrial diseases
• Mitochondrial dysfunction in migraine
• Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency
• Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China
• Organic cation/carnitine transporter OCTN2 (Slc22a5) is responsible for carnitine transport across apical membranes of small intestinal epithelial cells in mouse
• Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium-Chain Acyl-CoA dehydrogenase deficiency
• Recurrent Myalgia since Early Infancy-Misleading Clinical Course in a Child with Carnitine Palmitoyltransferase-II Deficiency
• Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells
• Recurrent rhabdomyolysis in a collegiate athlete: a case report
• Red Blood Cell Metabolism in Pyruvate Kinase Deficient Patients
• Restoration of hepatic cytochrome c oxidase activity and expression with acetyl-L-carnitine treatment in spf mice with an ornithine transcarbamylase deficiency
• Retrospective analysis of isobutyryl CoA dehydrogenase deficiency
• Rhabdomyolysis and myoglobinuria
• Rhabdomyolysis Associated with Recent <em>SARS-COV-2</em> Infection in a Patient with Carnitine Palmitoyltransferase II Deficiency
• Rhabdomyolysis Associated with Recent SARS-COV-2 Infection in a Patient with Carnitine Palmitoyltransferase II Deficiency
• Structural model of a malonyl-CoA-binding site of carnitine octanoyltransferase and carnitine palmitoyltransferase I: mutational analysis of a malonyl-CoA affinity domain
• Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal
• Subacute bilateral visual loss in methylmalonic acidemia
• Subacute presentation of propionic acidemia
• The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment
• The expanding clinical spectrum of mitochondrial diseases
• Tissue acylcarnitine and acyl-coenzyme A profiles in chronically hyperammonemic mice treated with sodium benzoate and supplementary L-carnitine
• Transport of carnitine into cells in hereditary carnitine deficiency
• Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria
• Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations
• Tyrosinemia Type I
• Unrecognized High Occurrence of Genetically Confirmed Hereditary Carnitine Palmitoyltransferase II Deficiency in an Austrian Family Points to the Ongoing Underdiagnosis of the Disease
• Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency
• Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy