Research By Disease – CheckOrphan

Disease: Carnitine-acylcarnitine translocase deficiency

A case report of Carnitine Palmitoyltransferase deficiency type II
A novel method for determining peroxisomal fatty acid β-oxidation
Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency
Acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency in newborns
Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G
Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G
Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong
Carnitine acylcarnitine translocase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine o-octanoyltransferase is a p53 target that promotes oxidative metabolism and cell survival following nutrient starvation
Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report
Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest
Carnitine-Acylcarnitine Translocase Deficiency Masked by Extreme Prematurity
Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review
Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review
Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing
Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects
Carnitine-acylcarnitine translocase deficiency: a case report with autopsy
Carnitine-acylcarnitine translocase deficiency: case report and review of the literature
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature
Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient
Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome
Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response
Carnitine-acylcarnitine translocase deficiency. Clinical course of 3 Saudi children with a severe phenotype
Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family
Case Study of an Elderly Patient With New Onset Weakness
Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant
Clinical features and genetic variants of a case with carnitine palmitoyltransferase 1A deficiency
CPT1C is required for synaptic plasticity and oscillatory activity that supports motor, associative and non-associative learning
CRAT links cholesterol metabolism to innate immune responses in the heart
Dataset from dried blood spot acylcarnitine for detection of Carnitine-Acylcarnitine Translocase (CACT) deficiency and Carnitine Palmitoyl Transferase 2 (CPT2) deficiency
Deciphering the pathogenesis of retinopathy associated with carnitine palmitoyltransferase I deficiency in zebrafish model
Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009
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
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening
Dietary copper supplementation enhances lipolysis in Rex rabbits
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts
Disturbance of Fatty Acid Metabolism Promoted Vascular Endothelial Cell Senescence via Acetyl-CoA-Induced Protein Acetylation Modification
Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect
Does SARS-Cov-2 Trigger Rhabdomyolysis in Carnitine-Palmitoyltransferase-II Deficiency?
Epidemiology of rare diseases detected by newborn screening in the Czech Republic
Expanded newborn metabolic screening programme in Hong Kong: a three-year journey
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan
Genetic deletion of Mas receptor in FVB/N mice impairs cardiac use of glucose and lipids
Genistein Regulates Lipid Metabolism via Estrogen Receptor β and Its Downstream Signal Akt/mTOR in HepG2 Cells
Historical Perspective on Clinical Trials of Carnitine in Children and Adults
Hypercholesterolaemia treatment in a patient with family hypercholesterolaemia and myopathy due to carnitine palmitoyltransferase II deficiency with PCSK9 inhibitors
Imipramine activates FAM3A-FOXA2-CPT2 pathway to ameliorate hepatic steatosis
In Silico Analysis of the Structural Dynamics and Substrate Recognition Determinants of the Human Mitochondrial Carnitine/Acylcarnitine SLC25A20 Transporter
Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations
Inhibition of carnitine palmitoyltransferase 1A in hepatic stellate cells protects against fibrosis
Late-Onset Carnitine-Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy
Late-Onset Carnitine-Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy
Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency
Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β-oxidation deficient cells: A comparative study
Metabolic flexibility maintains proliferation and migration of FGFR signaling-deficient lymphatic endothelial cells
miR204 potentially promotes non-alcoholic fatty liver disease by inhibition of cpt1a in mouse hepatocytes
Mitochondrial carnitine palmitoyltransferase-II dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis
Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency
Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism
Neonatal sudden death caused by a novel heterozygous mutation in SLC25A20 gene: A case report and brief literature review
Neutrophil trafficking to the site of infection requires Cpt1a-dependent fatty acid β-oxidation
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches
Newborn Screening for Inborn Errors of Metabolism [Internet]
Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trial
Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia
One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency
One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic
PARK7 deficiency inhibits fatty acid β-oxidation via PTEN to delay liver regeneration after hepatectomy
Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient
PHDs/CPT1B/VDAC1 axis regulates long-chain fatty acid oxidation in cardiomyocytes
Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency
Prolonged neuraxial block following spinal anaesthesia in a patient with carnitine palmitoyl transferase II deficiency undergoing caesarean section
Prospective treatment in carnitine-acylcarnitine translocase deficiency
Rhabdomyolysis Associated with Recent SARS-COV-2 Infection in a Patient with Carnitine Palmitoyltransferase II Deficiency
Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou
Skeletal muscle undergoes fiber type metabolic switch without myosin heavy chain switch in response to defective fatty acid oxidation
Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency
Sudden infant death from neonate carnitine palmitoyl transferase II deficiency
Tandem Mass Spectrometry for the Analysis of Plasma/Serum Acylcarnitines for the Diagnosis of Certain Organic Acidurias and Fatty Acid Oxidation Disorders
The lactate receptor GPR81 mediates hepatic lipid metabolism and the therapeutic effect of metformin on experimental NAFLDs
The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study
The significance of acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency
Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency
Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders
Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency