Associated Papers
Genomic sequencing enhances metabolic newborn screening in Thailand.
Kuptanon C et al.
Clinical Biochemistry, 2026
The global prevalence and genetic spectrum of primary carnitine deficiency.
Sun L et al.
Bmc Genomic Data, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
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
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L et al.
Journal of Medical Genetics, 2023
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Sharo AG et al.
Genome Medicine, 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
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.
Ambrose A et al.
Orphanet Journal of Rare Diseases, 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
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
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
Carnitine transport and fatty acid oxidation.
Longo N et al.
Biochimica Et Biophysica Acta, 2016
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Al-Jasmi FA et al.
Jimd Reports, 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: novel mutations and insights into the cardiac phenotype.
Shibbani K et al.
Clinical Genetics, 2014
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.
Al-Shamsi A et al.
Sultan Qaboos University Medical Journal, 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
Genotype-phenotype correlation in primary carnitine deficiency.
Rose EC et al.
Human Mutation, 2012
Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency.
Filippo CA et al.
Biochimica Et Biophysica Acta, 2011
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
Li FY et al.
Human Mutation, 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
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
Makhseed N et al.
Journal of Inherited Metabolic Disease, 2004
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
Results of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India.
Chockalingam P et al.
Indian Heart Journal, 0