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
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency.
Zhang Y et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 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
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
Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate.
Joshi PR et al.
Metabolites, 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
Whole-Exome Sequencing Identifies a Novel CPT2 Mutation in a Pedigree With Gout.
Guo Y et al.
Frontiers in Cell and Developmental Biology, 2022
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Yoneda ZT et al.
Jama Cardiology, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR et al.
Molecules (basel, Switzerland), 2020
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
Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.
Tajima G et al.
Journal of Human Genetics, 2019
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
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
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
Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency.
Yasuno T et al.
Biochemical and Biophysical Research Communications, 2014
Statin myotoxicity: a review of genetic susceptibility factors.
Needham M et al.
Neuromuscular Disorders : Nmd, 2014
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
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
Fanin M et al.
Clinical Genetics, 2012
Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.
Anichini A et al.
Neurological Research, 2011
Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.
Yasuno T et al.
Clinical Genetics, 2008
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.
Corti S et al.
Journal of the Neurological Sciences, 2008
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.
Musumeci O et al.
Neuromuscular Disorders : Nmd, 2007
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
Genetic risk factors associated with lipid-lowering drug-induced myopathies.
Vladutiu GD et al.
Muscle & Nerve, 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 due to a novel gene variant in a patient with rhabdomyolysis and ARF.
Kaneoka H et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 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
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.
Martín MA et al.
Human Mutation, 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
Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood.
Kaufmann P et al.
Molecular and Cellular Biochemistry, 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
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.
Verderio E et al.
Human Molecular Genetics, 1995