Associated Papers
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
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
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
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
Fanin M et al.
Clinical Genetics, 2012
Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts.
Bastin J et al.
Human Molecular Genetics, 2011
Post-mortem MRI reveals CPT2 deficiency after sudden infant death.
Bouchireb K et al.
European Journal of Pediatrics, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C.
Semba S et al.
Pathology International, 2008
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.
Isackson PJ et al.
Molecular Genetics and Metabolism, 2006
Peroxisome proliferator activated receptor delta (PPARdelta) agonist but not PPARalpha corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells.
Djouadi F et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.
Martín MA et al.
Human Mutation, 2000
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient.
Thuillier L et al.
Neuromuscular Disorders : Nmd, 2000
Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency.
Martín MA et al.
Muscle & Nerve, 1999
Defects in activation and transport of fatty acids.
Brivet M et al.
Journal of Inherited Metabolic Disease, 1999
Novel mutations associated with carnitine palmitoyltransferase II deficiency.
Taggart RT et al.
Human Mutation, 1999
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
Wataya K et al.
Human Mutation, 1998
[Identification of missense mutations and haplotyping of carnitine palmitoyltransferase II gene].
Akanuma J et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1997
[Molecular analysis of a patient with carnitine palmitoyltransferase II deficiency].
Akanuma J et al.
Rinsho Shinkeigaku = Clinical Neurology, 1997
Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency.
Handig I et al.
Human Genetics, 1996