Associated Papers
Primary Carnitine Deficiency: A Stitch in Time Saves Nine.
Saranya S D et al.
Indian Journal of Pediatrics, 2026
The global prevalence and genetic spectrum of primary carnitine deficiency.
Sun L et al.
Bmc Genomic Data, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
Martínez-Barrios E et al.
Human Genetics, 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
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
Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency.
Hanington OP et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2023
Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening.
Ji X et al.
Frontiers in Genetics, 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
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
Maguolo A et al.
Molecular Genetics and Metabolism Reports, 2020
A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.
Ferdinandusse S et al.
Human Mutation, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Functional and molecular studies in primary carnitine deficiency.
Frigeni M et al.
Human Mutation, 2017
Carnitine transport and fatty acid oxidation.
Longo N et al.
Biochimica Et Biophysica Acta, 2016
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
Shibbani K et al.
Clinical Genetics, 2014
Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.
Violante S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013
Genotype-phenotype correlation in primary carnitine deficiency.
Rose EC et al.
Human Mutation, 2012
Pericardial effusion in primary systemic carnitine deficiency.
Wattanasirichaigoon D et al.
Journal of Inherited Metabolic Disease, 2006
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
Primary systemic carnitine deficiency: Phenotypic variability, diagnostic challenges, and long-term outcomes.
Pınar E et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0