• A case of primary carnitine deficiency presenting with cholestasis, hepatomegaly, and hyperketonemia
• A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features
• A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child
• A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency
• A report of a pedigree with compound heterozygous mutations in the <em>SLC22A5</em> gene
• A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China
• A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns
• Analysis of blood carnitine profile and SLC22A5 gene variants in 17 neonates with Primary carnitine deficiency
• Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening
• Analysis of screening results for genetic metabolic diseases among 352 449 newborns from Changsha
• Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns
• Beneficial normalization of cardiac repolarization by carnitine in transgenic SQT1 rabbit models
• Broadening the Spectrum of <em>SLC22A5</em> Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus
• Cardiomyopathy associated with primary carnitine deficiency in adults: lack of complete response in patients with delayed treatment initiation
• Cardiomyopathy, carnitine deficiency, and celiac disease
• Carnitine Deficiency
• Case report: Tackling the complexities of an extremely premature newborn with intrauterine growth restriction and congenital metabolic disorders through a multidisciplinary approach
• Clinical and Gene Analysis of Fatty Acid Oxidation Disorders Found in Neonatal Tandem Mass Spectrometry Screening
• Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency
• Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism
• Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel mechanism
• Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity
• Increased cytokine levels induced by high phenylalanine concentrations in late diagnosis PKU patients compared to early diagnosis: Anti-inflammatory effect of L-carnitine
• Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation
• Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels
• l-carnitine: Nutrition, pathology, and health benefits
• Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency
• Newborn screening for fatty acid oxidation disorders in a southern Chinese population
• Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
• Newborn screening for inborn errors of metabolism in a northern Chinese population
• Newborn screening for primary carnitine deficiency using a second-tier genetic test
• Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
• Newborn screening in France: news and perspectives
• Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France
• Patients with primary carnitine deficiency treated with L-carnitine are alive and doing well-A 10-year follow-up in the Faroe Islands
• Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China
• Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening
• Reversible Cardiomyopathy, What Should the Clinicians Keep in Mind? A Case Report
• Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
• Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis
• SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands
• Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval
• The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience
• Unraveling cardiomyocyte responses and intercellular communication alterations in primary carnitine deficiency cardiomyopathy via single-nucleus RNA sequencing
• Update current understanding of neurometabolic disorders related to lysine metabolism