Associated Papers
Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.
Pan X et al.
Journal of Molecular Medicine (berlin, Germany), 2026
Genomic sequencing enhances metabolic newborn screening in Thailand.
Kuptanon C et al.
Clinical Biochemistry, 2026
Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China.
Tu X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Newborn screening for fatty acid oxidation disorders: epidemiological and genetic findings in Southeastern China.
Zhang S et al.
Bmc Pediatrics, 2025
Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM, ACADVL and SLC22A5 Genes.
Hidalgo Mayoral I et al.
Clinical Genetics, 2025
The global prevalence and genetic spectrum of primary carnitine deficiency.
Sun L et al.
Bmc Genomic Data, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency.
Zhi H et al.
International Journal of Neonatal Screening, 2025
Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.
Pan L et al.
Scientific Reports, 2025
Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics.
Hu H et al.
Italian Journal of Pediatrics, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Ou MM et al.
Frontiers in Pediatrics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
[Preimplantation genetic testing for a Chinese pedigree affected with Primary carnitine deficiency].
Deng J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
A Case with a Short QT Interval and Idiopathic Ventricular Fibrillation Due to Carnitine Transporter Defect.
Hsu CJ et al.
Acta Cardiologica Sinica, 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
Incorporating Next-Generation Sequencing as a Second-Tier Test for Primary Carnitine Deficiency.
Lin Y et al.
Molecular Genetics & Genomic Medicine, 2024
Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon.
Daher RT et al.
Orphanet Journal of Rare Diseases, 2024
Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis.
Zhou J et al.
Orphanet Journal of Rare Diseases, 2024
The grading diagnostic strategy of molecular autopsy combined with pathological autopsy in the forensic diagnosis of cardiomyopathy.
Li Z et al.
Legal Medicine (tokyo, Japan), 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
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.
Belaramani KM et al.
International Journal of Neonatal Screening, 2024
The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.
Zhang X et al.
Human Genomics, 2024
Newborn screening for fatty acid oxidation disorders in a southern Chinese population.
Lin Y et al.
Heliyon, 2024
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.
Jolfayi AG et al.
Bmc Cardiovascular Disorders, 2024
Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency.
Lin J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China.
Luo H et al.
Frontiers in Genetics, 2024
206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.
Xiao G et al.
Frontiers in Genetics, 2024
Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening.
Lai G et al.
Frontiers in Public Health, 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 for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L et al.
Journal of Medical Genetics, 2023
A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns.
Onuki T et al.
Children (basel, Switzerland), 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
[Analysis of blood carnitine profile and SLC22A5 gene variants in 17 neonates with Primary carnitine deficiency].
Song W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
Lefèvre CR et al.
International Journal of Neonatal Screening, 2023
Phenotypic and molecular features of Thai patients with primary carnitine deficiency.
Liammongkolkul S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2023
A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China.
Jia A et al.
Pharmacogenomics and Personalized Medicine, 2023
Clinical and Gene Analysis of Fatty Acid Oxidation Disorders Found in Neonatal Tandem Mass Spectrometry Screening.
Wang X et al.
Pharmacogenomics and Personalized Medicine, 2023
A report of a pedigree with compound heterozygous mutations in the SLC22A5 gene.
Zhou Y et al.
Frontiers in Pediatrics, 2023
Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening.
Ji X et al.
Frontiers in Genetics, 2023
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
Koleske ML et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022