• A hybrid procedure of living donor liver transplantation for a pediatric patient with citrin deficiency
• A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant
• Adult Onset Episodic Encephalopathy Due to Citrin Deficiency-A Case Report
• Adult-onset Type II Citrullinemia Developed under Dietary Restrictions during Imprisonment
• Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants
• Analysis of clinical and genetic variation in neonatal intrahepatic cholestasis caused by citrin deficiency
• Analysis of the serum bile acid profile to facilitate diagnosis and differential diagnosis of NA(+)-taurocholate cotransporting polypeptide deficiency
• Asymptomatic ASS1 carriers with high blood citrulline levels
• Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report
• Citrin Deficiency: Clinical and Nutritional Features
• Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency
• Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data
• Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition
• Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
• Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches
• Features of liver injury in 138 Chinese patients with NICCD
• Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency
• Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism
• Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test
• Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
• Managing recurrent portal steal in auxiliary liver transplantation for non-cirrhotic metabolic liver disease
• Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province
• Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency
• Nutritional support therapy for liver transplantation in an adult-onset type II citrullinemia patient: a case report
• Pathogenesis and Management of Citrin Deficiency
• Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency
• Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder
• Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases
• Serum procalcitonin as a marker of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
• Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
• The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
• The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants
• Type 1 citrullinemia patient with Brugada pattern undergoing general anesthesia for dental extractions: A case report
• Update on the diagnosis and management of neonatal intrahepatic cholestasis caused by citrin deficiency: Expert review on behalf of the Asian Pan-Pacific Society for Pediatric Gastroenterology, Hepatology, and Nutrition