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
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 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
Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China.
Zhou D et al.
Frontiers in Genetics, 2022
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR et al.
Molecules (basel, Switzerland), 2020
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Janeiro P et al.
European Journal of Pediatrics, 2019
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.
Joshi PR et al.
Journal of the Neurological Sciences, 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
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
Isackson PJ et al.
Molecular Genetics and Metabolism, 2008
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
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
Antenatal presentation of carnitine palmitoyltransferase II deficiency.
Elpeleg ON et al.
American Journal of Medical Genetics, 2001
Novel mutations associated with carnitine palmitoyltransferase II deficiency.
Taggart RT et al.
Human Mutation, 1999
Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency.
Handig I et al.
Human Genetics, 1996