Associated Papers
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
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H 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
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.
Zhang X et al.
Human Genomics, 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
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
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
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 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
Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China.
Chang S et al.
Frontiers in Genetics, 2022
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
[Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi].
Geng G et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience.
Schiergens KA et al.
Molecular Genetics and Metabolism Reports, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China.
Yang X et al.
Frontiers in Genetics, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
[Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou].
Huang YL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2020
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.
Gao J et al.
International Journal of Molecular Sciences, 2020
[SLC22A5 gene mutation analysis and prenatal diagnosis for a family with primary carnitine deficiency].
Tan J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area.
Zhou W et al.
Frontiers in Pediatrics, 2019
Functional and molecular studies in primary carnitine deficiency.
Frigeni M et al.
Human Mutation, 2017
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
Gallant NM et al.
Molecular Genetics and Metabolism, 2017
[Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency].
Lin Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
Carnitine transport and fatty acid oxidation.
Longo N et al.
Biochimica Et Biophysica Acta, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.
Longo N
Annals of Nutrition & Metabolism, 2016
Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.
Han L et al.
European Journal of Medical Genetics, 2014
[Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up].
Han LS et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
Li FY et al.
Human Mutation, 2010
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
El-Hattab AW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation.
Jakoby M et al.
Journal of Investigative Medicine High Impact Case Reports, 0