• <em>Ex vivo</em> precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases
• A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria
• A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria
• Aciduria argininosuccinica: informe de un caso de inicio neonatal
• Acrodermatitis dysmetabolica with argininosuccinate lyase deficiency
• Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria
• Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients
• Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options
• Argininosuccinate Lyase Deficiency
• Argininosuccinate lyase deficiency
• Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension
• Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression
• Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis
• Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures
• Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen
• Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer
• Argininosuccinic Aciduria-A Rare Indication for Liver Transplant: Report of Two Cases
• Argininosuccinic aciduria: from a monogenic to a complex disorder
• Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects
• ASL mRNA-LNP Therapeutic for the Treatment of Argininosuccinic Aciduria Enables Survival Benefit in a Mouse Model
• Ataxia
• Atrioventricular block in siblings with argininosuccinic aciduria
• Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders
• Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening
• Biochemical markers and neuropsychological functioning in distal urea cycle disorders
• Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency
• Case 3: The Hypothermic Newborn
• Clinical and genetic analysis of five Chinese patients with urea cycle disorders
• Clinical and genetic analysis of two children suspected for argininosuccinic aciduria
• Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data
• Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy
• Coronary Vasospasm in a Patient With Argininosuccinic Aciduria
• Creatine metabolism in patients with urea cycle disorders
• Cutting Edge: l-Arginine Transfer from Antigen-Presenting Cells Sustains CD4⁺ T Cell Viability and Proliferation
• Determination of amino acid profile for argininosuccinic aciduria disorder using High-Performance Liquid Chromatography with fluorescence detection
• Dietary management of urea cycle disorders: European practice
• Dietary management of urea cycle disorders: UK practice
• Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism
• Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid
• Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
• Early allograft dysfunction in a pediatric liver allograft with an occult pathogenic mutation in the urea cycle
• Expanding the phenotype in argininosuccinic aciduria: need for new therapies
• From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria
• Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay
• Gene therapy for urea cycle defects: An update from historical perspectives to future prospects
• Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G &gt; A (p.Arg146Gln) mutation
• Genetic analysis of ASS1, ASL and SLC25A13 in citrullinemia patients
• Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors
• Genetic diagnosis of a Chinese pedigree affected with neonatal argininosuccinic aciduria
• Histopathological findings in livers of patients with urea cycle disorders
• Hydrogen sulfide: in the aftermath of argininosuccinate lyase and nitric oxide deficiency
• Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study
• Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders
• Impaired T cell function in argininosuccinate synthetase deficiency
• Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium
• Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014)
• Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study
• Ion chromatographic method for the determination of orotic acid in urine
• Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report
• Late-onset argininosuccinic aciduria in a 72-year-old man presenting with fatal hyperammonemia
• Liver involvement in urea cycle disorders: a review of the literature
• Liver Transplantation in Children with Urea Cycle Disorders: The Importance of Minimizing Waiting Time
• Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea
• Magnetic resonance imaging findings and neurodevelopmental outcomes in neonates with urea-cycle defects
• Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
• mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria
• Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene
• Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study
• NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study
• Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation
• Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria
• Optimizing therapy for argininosuccinic aciduria
• Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges
• Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels
• Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry: implications for the diagnosis of argininosuccinic aciduria
• Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry
• Release of SMP30 in Extracellular Vesicles under Conditions of Ascorbic Acid Deficiency Is Involved with Acute Phase Response in ODS Rat
• Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant
• Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders
• Role of optic microscopy for early diagnosis of Menkes disease
• Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
• Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders
• The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria
• The incidence of urea cycle disorders
• The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey
• The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
• The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
• The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism
• To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening
• Transition to glycerol phenylbutyrate for the management of urea cycle disorders: clinical experiences
• Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria
• Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria
• Urea cycle disorder--argininosuccinic lyase deficiency
• Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings
• Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing
• Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
• Urea Cycle Disorders: A Neuroimaging Pattern Approach Using Diffusion and FLAIR MRI
• Use of continuous hemodiafiltration for the treatment of a neonate with hyperammonemia secondary to argininosuccinate lyase (ASAL) deficiency
• Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in <em>ASL</em> in a Chinese Han Patient with Argininosuccinate Lyase Deficiency
• Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria