Associated Papers
Development and validation of a carnitine cycle and transport disorders (CCD) panel: an ONT-compatible multi-gene diagnostic kit for newborn and selective screening.
Akan G et al.
Orphanet Journal of Rare Diseases, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
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
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
Carnitine Palmitoyltransferase II (CPT2) Deficiency: An Overlooked and Elusive Cause of Acute Kidney Injury.
Seferi S et al.
Cureus, 2024
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.
Serra G et al.
Italian Journal of Pediatrics, 2024
Low Complex I and III Activity-Derived Myopathy Causing Recurrent Exertional Rhabdomyolysis.
Hu YE
Current Sports Medicine Reports, 2024
The role of genetic defects in carnitine-associated hepatic encephalopathy: a review of literature.
Kheirandish A et al.
Gastroenterology and Hepatology From Bed to Bench, 2024
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.
Shelihan I et al.
Jimd Reports, 2022
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR et al.
Molecules (basel, Switzerland), 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.
Tajima G et al.
Journal of Human Genetics, 2019
Rhabdomyolysis: a genetic perspective.
Scalco RS et al.
Orphanet Journal of Rare Diseases, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
Single nucleotide polymorphism in CPT1B and CPT2 genes and its association with blood carnitine levels in acute myocardial infarction patients.
Khan HA et al.
Gene, 2013
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia.
Schiemann AH et al.
British Journal of Anaesthesia, 2013
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
Fanin M et al.
Clinical Genetics, 2012
Can inhalation agents be used in the presence of a child with myopathy?
Veyckemans F
Current Opinion in Anaesthesiology, 2010
Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation.
Hogan KJ et al.
Anesthesia and Analgesia, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Pharmacogenomics of statin response.
Mangravite LM et al.
Current Opinion in Molecular Therapeutics, 2008
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.
Illsinger S et al.
American Journal of Medical Genetics. Part A, 2008
Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.
Spiegel R et al.
Journal of Inherited Metabolic Disease, 2007
Genetic risk factors associated with lipid-lowering drug-induced myopathies.
Vladutiu GD et al.
Muscle & Nerve, 2006
Anesthetic management of a parturient with carnitine palmitoyltransferase II deficiency.
Lilker S et al.
Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2006
Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation.
Rafay MF et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2005
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.
Sigauke E et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2003
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
Thuillier L et al.
Human Mutation, 2003
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
Olpin SE et al.
Journal of Inherited Metabolic Disease, 2003
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.
Vladutiu GD et al.
The Journal of Pediatrics, 2002
Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency.
Vladutiu GD et al.
Muscle & Nerve, 2002
Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1).
Roberts MC et al.
Anesthesiology, 2001
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.
Martín MA et al.
Human Mutation, 2000
A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene.
Vladutiu GD et al.
Molecular Genetics and Metabolism, 2000
Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency.
Vladutiu GD
Muscle & Nerve, 1999
Novel mutations associated with carnitine palmitoyltransferase II deficiency.
Taggart RT et al.
Human Mutation, 1999
[Carnitine palmitoyltransferase II(CPT2) deficiency].
Yorifuji S
Ryoikibetsu Shokogun Shirizu, 1998