Associated Papers
Successful Improvement of Cardiac Function in Late-Onset Dilated Cardiomyopathy Due to the SLC25A20 c.199-10T>G Mutation.
Nguyen HT et al.
Jacc. Case Reports, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review.
Trinh NB et al.
Oman Medical Journal, 2025
Loss-of-function SLC25A20 variant causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.
Gan Z et al.
Gene, 2025
Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.
Ouyang X et al.
Frontiers in Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
[Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene].
Zhang Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.
Tang C et al.
International Journal of Neonatal Screening, 2024
Clinical utility of chromosomal microarray analysis and whole exome sequencing in foetuses with oligohydramnios.
Shi X et al.
Annals of Medicine, 2023
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity.
Shi C et al.
Translational Pediatrics, 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing
Carmona SMG et al.
International Journal of Neonatal Screening, 2023
A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations.
Zhang T et al.
Human Mutation, 2023
Genome-wide detection of human variants that disrupt intronic branchpoints.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 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
Neonatal sudden death caused by a novel heterozygous mutation in SLC25A20 gene: A case report and brief literature review.
Li X et al.
Legal Medicine (tokyo, Japan), 2022
Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency.
Tran VK et al.
Taiwanese Journal of Obstetrics & Gynecology, 2022
Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China.
Zhou D et al.
Frontiers in Genetics, 2022
One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency.
Li X et al.
Frontiers in Pediatrics, 2022
Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
Habib A et al.
Clinical Biochemistry, 2021
Clinical and genetic spectrum of neonatal arrhythmia in a NICU.
Dai Y et al.
Translational Pediatrics, 2021
Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.
Norris MK et al.
Jpen. Journal of Parenteral and Enteral Nutrition, 2021
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.
Gürbüz BB et al.
The Turkish Journal of Pediatrics, 2021
Genetic aetiology of early infant deaths in a neonatal intensive care unit.
Yang L et al.
Journal of Medical Genetics, 2020
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing.
Kingsmore SF et al.
Npj Genomic Medicine, 2020
Late-Onset Carnitine-Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy.
Chen M et al.
Frontiers in Pediatrics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China.
Tang C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
[Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G].
Fan X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018
Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.
Yan HM et al.
Medicine, 2017
Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene.
Sasai H et al.
Molecular Genetics & Genomic Medicine, 2017
Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia.
Mohamed S et al.
Pediatrics and Neonatology, 2015
Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.
Vatanavicharn N et al.
Brain & Development, 2015
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.
Tian X et al.
Neurology. Genetics, 2015
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Hui J et al.
Pathology, 2014
Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
Fukushima T et al.
Journal of Human Genetics, 2013
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
Korman SH et al.
Molecular Genetics and Metabolism, 2006
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.
Rubio-Gozalbo ME et al.
Molecular Aspects of Medicine, 0
Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency.
Jing J et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0