Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.
Wang T et al.
Clinical Case 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
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
Mitochondrial carnitine palmitoyltransferase-II dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis.
Yao M et al.
World Journal of Gastroenterology, 2023
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
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.
Liu Y et al.
Frontiers in Genetics, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening.
Bo R et al.
Molecular Genetics and Metabolism Reports, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Rhabdomyolysis caused by carnitine palmitoyltransferase 2 deficiency: A case report and systematic review of the literature.
Ivin N et al.
Journal of the Intensive Care Society, 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
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
A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth.
Yamada K et al.
Molecular Genetics and Metabolism Reports, 2017
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
Park HJ et al.
Clinical Genetics, 2017
[CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency].
Tan JQ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016
Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.
Yamamoto T et al.
Molecular Genetics and Metabolism Reports, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants.
Kobayashi Y et al.
Brain & Development, 2013
Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening.
Yamamoto T et al.
Molecular Genetics and Metabolism, 2011
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
A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation.
Aoki J et al.
Neurology, 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
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
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
[Carnitine palmitoyltransferase deficiency in a patient with severe psychomotor retardation].
Suzuki H et al.
No to Hattatsu = Brain and Development, 1991
First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L.
Shima A et al.
Internal Medicine (tokyo, Japan), 0