Associated Papers
Expanding clinical phenotype in CACNA1C related disorders: familial mesial temporal lobe epilepsy.
Wang C et al.
Acta Epileptologica, 2025
Whole-Exome Sequencing of Discordant Monozygotic Twins for Congenital Scoliosis: A Family Case Study.
Samarkhanova D et al.
Genes, 2025
The Genetic Landscape of Acute Necrotizing Encephalopathy: Insights Into the Possible Pathogenesis.
Geng C et al.
Journal of Clinical Neurology (seoul, Korea), 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature.
Lu CH et al.
Molecular Genetics and Metabolism Reports, 2024
Single-cell exome sequencing reveals polyclonal seeding and TRPS1 mutations in colon cancer metastasis.
Cai J et al.
Signal Transduction and Targeted Therapy, 2024
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.
Tajima G et al.
International Journal of Neonatal Screening, 2023
Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity.
Shi C et al.
Translational Pediatrics, 2023
Mitochondrial carnitine palmitoyltransferase-II dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis.
Yao M et al.
World Journal of Gastroenterology, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Recurrent acute necrotizing encephalopathy in a boy with RANBP2 mutation and thermolabile CPT2 variant: The first case of ANE1 in Japan.
Ohashi E et al.
Brain & Development, 2021
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Adhikari AN et al.
Nature Medicine, 2020
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR et al.
Molecules (basel, Switzerland), 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.
Shibata A et al.
Brain & Development, 2019
Identification of novel non-synonymous variants associated with type 2 diabetes-related metabolites in Korean population.
Park TJ et al.
Bioscience Reports, 2019
Association of the Polymorphism of rs1799822 on Carnitine Palmitoyltransferase II Gene with Severe Enterovirus 71 Encephalitis in Chinese Children.
Guo Y et al.
Journal of Molecular Neuroscience : Mn, 2019
Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder.
Barone R et al.
International Journal of Molecular Sciences, 2019
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
Yamaguchi-Kabata Y et al.
Human Genetics, 2019
Acute necrotizing encephalopathy and a carnitine palmitoyltransferase 2 variant in an adult.
Kobayashi Y et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2019
Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.
Tajima G et al.
Journal of Human Genetics, 2019
Endogenous genetic risk factor for serious heatstroke: the thermolabile phenotype of carnitine palmitoyltransferase II variant.
Oda J et al.
Acute Medicine & Surgery, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
A Metabolic Basis for Endothelial-to-Mesenchymal Transition.
Xiong J et al.
Molecular Cell, 2018
Sudden infant death from neonate carnitine palmitoyl transferase II deficiency.
Du SH et al.
Forensic Science International, 2017
Significance of l-carnitine for human health.
Adeva-Andany MM et al.
Iubmb Life, 2017
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
Lehmann D et al.
International Journal of Molecular Sciences, 2017
A case of sudden unexpected infant death involving a homozygotic twin with the thermolabile CPT2 variant, accompanied by rotavirus infection and treatment with an antibiotic containing pivalic acid.
Takahashi Y et al.
Legal Medicine (tokyo, Japan), 2016
Carnitine palmitoyl transferase 2 polymorphism may be associated with enterovirus 71 severe infection in a Chinese population.
Liu P et al.
Archives of Virology, 2016
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D et al.
Plos One, 2016
Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.
Yamamoto T et al.
Molecular Genetics and Metabolism Reports, 2015
Clinical and genetic features of acute encephalopathy in children taking theophylline.
Saitoh M et al.
Brain & Development, 2015
Abbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblasts.
Yao M et al.
Plos One, 2015
Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population.
Zhou S et al.
Plos One, 2015
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Hui J et al.
Pathology, 2014
Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy.
Yamamoto T et al.
Brain & Development, 2014
Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.
Nasuno T et al.
Cancer Science, 2014
A case of recurrent acute encephalopathy with febrile convulsive status epilepticus with carnitine palmitoyltransferase II variation.
Sakai E et al.
Neuropediatrics, 2013
Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.
Olpin SE
Journal of Inherited Metabolic Disease, 2013
Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants.
Kobayashi Y et al.
Brain & Development, 2013
Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children.
Kubota M et al.
Brain & Development, 2012
Bezafibrate upregulates carnitine palmitoyltransferase II expression and promotes mitochondrial energy crisis dissipation in fibroblasts of patients with influenza-associated encephalopathy.
Yao M et al.
Molecular Genetics and Metabolism, 2011
Pandemic influenza A-associated acute necrotizing encephalopathy without neurologic sequelae.
Kumakura A et al.
Pediatric Neurology, 2011
Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.
Mak CM et al.
Journal of Human Genetics, 2011
Characterization of compound missense mutation and deletion of carnitine palmitoyltransferase II in a patient with adenovirus-associated encephalopathy.
Yao D et al.
The Journal of Medical Investigation : Jmi, 2011