Associated Papers
The global prevalence and genetic spectrum of primary carnitine deficiency.
Sun L et al.
Bmc Genomic Data, 2025
Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics.
Hu H et al.
Italian Journal of Pediatrics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 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
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L et al.
Journal of Medical Genetics, 2023
Reversible Cardiomyopathy, What Should the Clinicians Keep in Mind? A Case Report.
Alzahrani AA et al.
Journal of the Saudi Heart Association, 2023
Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening.
Ji X et al.
Frontiers in Genetics, 2023
A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations.
Zhang T et al.
Human Mutation, 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
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 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 molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.
Tan J et al.
Frontiers in Genetics, 2021
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.
Ko JM et al.
Yonsei Medical Journal, 2018
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
Kang E et al.
Bmc Pediatrics, 2018
Functional and molecular studies in primary carnitine deficiency.
Frigeni M et al.
Human Mutation, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Systemic primary carnitine deficiency with hypoglycemic encephalopathy.
Jun JS et al.
Annals of Pediatric Endocrinology & Metabolism, 2016
Carnitine transport and fatty acid oxidation.
Longo N et al.
Biochimica Et Biophysica Acta, 2016
Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.
Hitomi T et al.
Journal of Genetics, 2015
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
Li FY et al.
Human Mutation, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
Lee NC et al.
Molecular Genetics and Metabolism, 2010
Pharmacological rescue of carnitine transport in primary carnitine deficiency.
Amat di San Filippo C et al.
Human Mutation, 2006
Disorders of carnitine transport and the carnitine cycle.
Longo N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2006
Functional characterization of human organic cation transporter OCTN1 single nucleotide polymorphisms in the Japanese population.
Kawasaki Y et al.
Journal of Pharmaceutical Sciences, 2004
Carnitine transport: pathophysiology and metabolism of known molecular defects.
Tein I
Journal of Inherited Metabolic Disease, 2003
A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.
Tang NL et al.
Human Mutation, 2002
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.
Lamhonwah AM et al.
American Journal of Medical Genetics, 2002
Age-associated cardiomyopathy in heterozygous carrier mice of a pathological mutation of carnitine transporter gene, OCTN2.
Xiaofei E et al.
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2002
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
Wang Y et al.
Human Mutation, 2000
Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.
Koizumi A et al.
Human Molecular Genetics, 1999
Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
Tang NL et al.
Human Molecular Genetics, 1999
Phenotype and genotype variation in primary carnitine deficiency.
Wang Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0