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
A case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis.
Tran TCM 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
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
Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics.
D'Annibale OM et al.
Cells, 2022
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
Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan.
Yamada K et al.
Molecular Genetics and Metabolism Reports, 2018
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Tajima G et al.
Molecular Genetics and Metabolism, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.
Yamaguchi S et al.
Molecular Genetics and Metabolism, 2012
Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.
Hori T et al.
The Tohoku Journal of Experimental Medicine, 2010
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
Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.
Yasuno T et al.
Clinical Genetics, 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
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
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