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3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency
Earwax: A potentially useful medium to identify inborn errors of metabolism?
amino-acid n-acetyltransferase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
amino-acid n-acetyltransferase deficiency
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
amino-acid n-acetyltransferase deficiency
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Amyloidosis
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Anemia
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
arginase deficiency
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
arginase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
arginase deficiency
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
arginase deficiency
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
arginase deficiency
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
argininosuccinate lyase deficiency
A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
argininosuccinate lyase deficiency
A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.
argininosuccinate lyase deficiency
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
argininosuccinate lyase deficiency
An investigation of argininosuccinic acid anhydrides in argininosuccinic acid lyase deficiency by 1H-NMR spectroscopy.
argininosuccinate lyase deficiency
Application of electrospray tandem mass spectrometry to neonatal screening.
argininosuccinate lyase deficiency
Arginine as an essential amino acid in children with argininosuccinase deficiency.
argininosuccinate lyase deficiency
Arginine therapy of argininosuccinase deficiency.
argininosuccinate lyase deficiency
Argininosuccinase deficiency in a premature infant.
argininosuccinate lyase deficiency
Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): Experience with four independent CDT analysis methods - misleading results given by the %CDT TIA assay.
argininosuccinate lyase deficiency
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
argininosuccinate lyase deficiency
Argininosuccinate lyase deficiency.
argininosuccinate lyase deficiency
Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting.
argininosuccinate lyase deficiency
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
argininosuccinate lyase deficiency
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
argininosuccinate lyase deficiency
Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures.
argininosuccinate lyase deficiency
Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.
argininosuccinate lyase deficiency
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
argininosuccinate lyase deficiency
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
argininosuccinate lyase deficiency
Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency.
argininosuccinate lyase deficiency
Chronic coagulopathy in a patient with argininosuccinase deficiency.
argininosuccinate lyase deficiency
Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.
argininosuccinate lyase deficiency
Chronic liver involvement in urea cycle disorders.
argininosuccinate lyase deficiency
Citrate therapy in argininosuccinate lyase deficiency.
argininosuccinate lyase deficiency
Clinical and genetic analysis of five Chinese patients with urea cycle disorders.
argininosuccinate lyase deficiency
Clinical and genetic diversity of congenital hyperammonemia.
argininosuccinate lyase deficiency
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
argininosuccinate lyase deficiency
Complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
argininosuccinate lyase deficiency
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
argininosuccinate lyase deficiency
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.
argininosuccinate lyase deficiency
Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency.
argininosuccinate lyase deficiency
Early dietary management in an infant with argininosuccinase deficiency: preliminary report.
argininosuccinate lyase deficiency
Earwax: A potentially useful medium to identify inborn errors of metabolism?
argininosuccinate lyase deficiency
Free Radical Scavengers Prevent Argininosuccinic Acid-Induced Oxidative Stress in the Brain of Developing Rats: a New Adjuvant Therapy for Argininosuccinate Lyase Deficiency?
argininosuccinate lyase deficiency
Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
argininosuccinate lyase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
argininosuccinate lyase deficiency
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
argininosuccinate lyase deficiency
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
argininosuccinate lyase deficiency
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
argininosuccinate lyase deficiency
Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.
argininosuccinate lyase deficiency
Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship.
argininosuccinate lyase deficiency
Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy.
argininosuccinate lyase deficiency
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
argininosuccinate lyase deficiency
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
argininosuccinate lyase deficiency
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.
argininosuccinate lyase deficiency
Mild variant of argininosuccinic aciduria.
argininosuccinate lyase deficiency
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
argininosuccinate lyase deficiency
Neonatal screening for citrullinaemia.
argininosuccinate lyase deficiency
One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency.
argininosuccinate lyase deficiency
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
argininosuccinate lyase deficiency
Population screening in a Druze community: the challenge and the reward.
argininosuccinate lyase deficiency
Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency.
argininosuccinate lyase deficiency
Prospective treatment of urea cycle disorders.
argininosuccinate lyase deficiency
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
argininosuccinate lyase deficiency
Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry.
argininosuccinate lyase deficiency
Refeeding syndrome in a young woman with argininosuccinate lyase deficiency.
argininosuccinate lyase deficiency
Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
argininosuccinate lyase deficiency
Role of the clinical laboratory in evaluation of argininosuccinate lyase deficiency.
argininosuccinate lyase deficiency
Screening blood spots for argininosuccinase deficiency by electrospray tandem mass spectrometry.
argininosuccinate lyase deficiency
Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: a study in a 5-year-old patient under total parenteral nutrition.
argininosuccinate lyase deficiency
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
argininosuccinate lyase deficiency
Successful liver transplantation for argininosuccinate lyase deficiency (ASLD).
argininosuccinate lyase deficiency
Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency.
argininosuccinate lyase deficiency
Sustained Engraftment and Tissue Enzyme Activity After Liver Cell Transplantation for Argininosuccinate Lyase Deficiency.
argininosuccinate lyase deficiency
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.
argininosuccinate lyase deficiency
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.
argininosuccinate lyase deficiency
Two cases suggesting a role for the L-arginine nitric oxide pathway in neonatal blood pressure regulation.
argininosuccinate lyase deficiency
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
argininosuccinate lyase deficiency
Ultrastructural study of the liver in argininosuccinase deficiency.
argininosuccinate lyase deficiency
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
argininosuccinate lyase deficiency
Urea cycle disorders in Thai infants: a report of 5 cases.
argininosuccinate lyase deficiency
Usefulness of magnetic resonance spectroscopy in urea cycle disorders.
argininosuccinate lyase deficiency
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency.
argininosuccinate lyase deficiency
[Argininosuccinate lyase deficiency]
argininosuccinate lyase deficiency
[Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].
argininosuccinate lyase deficiency
[Screening of newborns for argininosuccinase deficiency. First experiences in Austria (author's transl)]
argininosuccinate synthase deficiency
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
argininosuccinate synthase deficiency
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
argininosuccinate synthase deficiency
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country.
argininosuccinate synthase deficiency
Clinical and genetic diversity of congenital hyperammonemia.
argininosuccinate synthase deficiency
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
argininosuccinate synthase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
argininosuccinate synthase deficiency
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
argininosuccinate synthase deficiency
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
argininosuccinate synthase deficiency
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
argininosuccinate synthase deficiency
Prospective treatment of urea cycle disorders.
argininosuccinate synthase deficiency
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
argininosuccinate synthase deficiency
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Argininosuccinic Aciduria
A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
Argininosuccinic Aciduria
A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.
Argininosuccinic Aciduria
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria.
Argininosuccinic Aciduria
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
Argininosuccinic Aciduria
An investigation of argininosuccinic acid anhydrides in argininosuccinic acid lyase deficiency by 1H-NMR spectroscopy.
Argininosuccinic Aciduria
Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.
Argininosuccinic Aciduria
Application of electrospray tandem mass spectrometry to neonatal screening.
Argininosuccinic Aciduria
Arginine as an essential amino acid in children with argininosuccinase deficiency.
Argininosuccinic Aciduria
Arginine therapy of argininosuccinase deficiency.
Argininosuccinic Aciduria
Argininosuccinase deficiency in a premature infant.
Argininosuccinic Aciduria
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
Argininosuccinic Aciduria
Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): Experience with four independent CDT analysis methods - misleading results given by the %CDT TIA assay.
Argininosuccinic Aciduria
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
Argininosuccinic Aciduria
Argininosuccinate lyase deficiency.
Argininosuccinic Aciduria
Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting.
Argininosuccinic Aciduria
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
Argininosuccinic Aciduria
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
Argininosuccinic Aciduria
Argininosuccinate lyase levels in blood, liver and cultured fibroblasts of a patient with argininosuccinic aciduria.
Argininosuccinic Aciduria
Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures.
Argininosuccinic Aciduria
Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.
Argininosuccinic Aciduria
Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts.
Argininosuccinic Aciduria
Argininosuccinic Aciduria-A Rare Indication for Liver Transplant: Report of Two Cases.
Argininosuccinic Aciduria
ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS.
Argininosuccinic Aciduria
Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.
Argininosuccinic Aciduria
Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children.
Argininosuccinic Aciduria
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
Argininosuccinic Aciduria
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Argininosuccinic Aciduria
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
Argininosuccinic Aciduria
Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency.
Argininosuccinic Aciduria
Chronic coagulopathy in a patient with argininosuccinase deficiency.
Argininosuccinic Aciduria
Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.
Argininosuccinic Aciduria
Chronic liver involvement in urea cycle disorders.
Argininosuccinic Aciduria
Citrate therapy in argininosuccinate lyase deficiency.
Argininosuccinic Aciduria
Clinical and genetic analysis of five Chinese patients with urea cycle disorders.
Argininosuccinic Aciduria
Clinical and genetic diversity of congenital hyperammonemia.
Argininosuccinic Aciduria
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.
Argininosuccinic Aciduria
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
Argininosuccinic Aciduria
Complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Argininosuccinic Aciduria
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Argininosuccinic Aciduria
Deficient argininosuccinase activity in brain in argininosuccinicaciduria.
Argininosuccinic Aciduria
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.
Argininosuccinic Aciduria
Determination of amino acid profile for argininosuccinic aciduria disorder using High-Performance Liquid Chromatography with fluorescence detection.
Argininosuccinic Aciduria
Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency.
Argininosuccinic Aciduria
Early dietary management in an infant with argininosuccinase deficiency: preliminary report.
Argininosuccinic Aciduria
Earwax: A potentially useful medium to identify inborn errors of metabolism?
Argininosuccinic Aciduria
Free Radical Scavengers Prevent Argininosuccinic Acid-Induced Oxidative Stress in the Brain of Developing Rats: a New Adjuvant Therapy for Argininosuccinate Lyase Deficiency?
Argininosuccinic Aciduria
Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay.
Argininosuccinic Aciduria
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.
Argininosuccinic Aciduria
Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
Argininosuccinic Aciduria
Genetic approach to prenatal diagnosis in urea cycle defects.
Argininosuccinic Aciduria
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.
Argininosuccinic Aciduria
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Argininosuccinic Aciduria
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Argininosuccinic Aciduria
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
Argininosuccinic Aciduria
Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.
Argininosuccinic Aciduria
Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship.
Argininosuccinic Aciduria
Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy.
Argininosuccinic Aciduria
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
Argininosuccinic Aciduria
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Argininosuccinic Aciduria
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.
Argininosuccinic Aciduria
Mild variant of argininosuccinic aciduria.
Argininosuccinic Aciduria
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria.
Argininosuccinic Aciduria
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Argininosuccinic Aciduria
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.
Argininosuccinic Aciduria
Neonatal screening for citrullinaemia.
Argininosuccinic Aciduria
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
Argininosuccinic Aciduria
One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency.
Argininosuccinic Aciduria
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Argininosuccinic Aciduria
Population screening in a Druze community: the challenge and the reward.
Argininosuccinic Aciduria
Prenatal diagnosis of argininosuccinic aciduria: effect of mycoplasma contamination on the indirect assay for argininosuccinate lyase.
Argininosuccinic Aciduria
Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency.
Argininosuccinic Aciduria
Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy.
Argininosuccinic Aciduria
Prospective treatment of urea cycle disorders.
Argininosuccinic Aciduria
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Argininosuccinic Aciduria
Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry.
Argininosuccinic Aciduria
Refeeding syndrome in a young woman with argininosuccinate lyase deficiency.
Argininosuccinic Aciduria
Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
Argininosuccinic Aciduria
Role of the clinical laboratory in evaluation of argininosuccinate lyase deficiency.
Argininosuccinic Aciduria
Screening blood spots for argininosuccinase deficiency by electrospray tandem mass spectrometry.
Argininosuccinic Aciduria
Serum and erythocyte argininosuccinate lyase assay by NADH fluorescence generated from formed fumarate.
Argininosuccinic Aciduria
Severe liver fibrosis in argininosuccinic aciduria.
Argininosuccinic Aciduria
Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: a study in a 5-year-old patient under total parenteral nutrition.
Argininosuccinic Aciduria
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Argininosuccinic Aciduria
Successful liver transplantation for argininosuccinate lyase deficiency (ASLD).
Argininosuccinic Aciduria
Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency.
Argininosuccinic Aciduria
Sustained Engraftment and Tissue Enzyme Activity After Liver Cell Transplantation for Argininosuccinate Lyase Deficiency.
Argininosuccinic Aciduria
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.
Argininosuccinic Aciduria
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.
Argininosuccinic Aciduria
Two cases suggesting a role for the L-arginine nitric oxide pathway in neonatal blood pressure regulation.
Argininosuccinic Aciduria
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
Argininosuccinic Aciduria
Ultrastructural study of the liver in argininosuccinase deficiency.
Argininosuccinic Aciduria
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.
Argininosuccinic Aciduria
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
Argininosuccinic Aciduria
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Argininosuccinic Aciduria
Urea cycle disorders in Thai infants: a report of 5 cases.
Argininosuccinic Aciduria
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.
Argininosuccinic Aciduria
Usefulness of magnetic resonance spectroscopy in urea cycle disorders.
Argininosuccinic Aciduria
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency.
Argininosuccinic Aciduria
[Argininosuccinate lyase deficiency]
Argininosuccinic Aciduria
[Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].
Argininosuccinic Aciduria
[Screening of newborns for argininosuccinase deficiency. First experiences in Austria (author's transl)]
Bardet-Biedl Syndrome
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Brain Damage, Chronic
Usefulness of magnetic resonance spectroscopy in urea cycle disorders.
Brain Diseases
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
Brain Diseases
Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
Breast Neoplasms
Arginine depriving enzymes: applications as emerging therapeutics in cancer treatment.
Breast Neoplasms
Argininosuccinate lyase is a potential therapeutic target in breast cancer.
Breast Neoplasms
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Breast Neoplasms
Silencing of argininosuccinate lyase inhibits colorectal cancer formation.
Brucellosis
In vivo-induced argininosuccinate lyase plays a role in the replication of Brucella abortus in RAW264.7 cells.
carbamoyl-phosphate synthase (ammonia) deficiency
Increased excretion of N-carbamoyl compounds in patients with urea cycle defects.
carbamoyl-phosphate synthase (ammonia) deficiency
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
carbamoyl-phosphate synthase (ammonia) deficiency
Population screening in a Druze community: the challenge and the reward.
carbamoyl-phosphate synthase (ammonia) deficiency
Prospective treatment of urea cycle disorders.
carbamoyl-phosphate synthase (ammonia) deficiency
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Carcinoma
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Carcinoma, Hepatocellular
Arginine depriving enzymes: applications as emerging therapeutics in cancer treatment.
Carcinoma, Hepatocellular
Down-regulation of argininosuccinate lyase induces hepatoma cell apoptosis through activating Bax signaling pathway.
Carcinoma, Hepatocellular
Molecular cloning of cDNA for rat argininosuccinate lyase and its expression in rat hepatoma cell lines.
Carcinoma, Hepatocellular
Reduced Expression of Argininosuccinate Lyase is Closely Associated With Postresectional Survival in Hepatocellular Carcinoma: An Immunohistochemistry Study of 61 Cases.
Cardiomyopathies
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Cataract
Urea cycle enzymes in retina, ciliary body-iris, lens and senile cataracts.
Citrullinemia
A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
Citrullinemia
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
Citrullinemia
Application of electrospray tandem mass spectrometry to neonatal screening.
Citrullinemia
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Citrullinemia
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country.
Citrullinemia
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Citrullinemia
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry.
Citrullinemia
Genetic approach to prenatal diagnosis in urea cycle defects.
Citrullinemia
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Citrullinemia
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Citrullinemia
Molecular diagnosis of urea cycle disorders: current global scenario.
Citrullinemia
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Citrullinemia
Prospective treatment of urea cycle disorders.
Citrullinemia
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Citrullinemia
Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
Citrullinemia
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Citrullinemia
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Colonic Neoplasms
Arginine depriving enzymes: applications as emerging therapeutics in cancer treatment.
Colorectal Neoplasms
Silencing of argininosuccinate lyase inhibits colorectal cancer formation.
Coma
Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria.
Coma
Arginine therapy of argininosuccinase deficiency.
Coma
Prospective treatment of urea cycle disorders.
Congenital Microtia
Mass Spectrometric Characterization of Metabolites in Ear Cartilage: Congenital Microtia and Normal Auricle.
Drug Resistant Epilepsy
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.
Dwarfism
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Enterocolitis, Necrotizing
Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis.
Epilepsy
Decreased glutamine synthetase, increased citrulline-nitric oxide cycle activities, and oxidative stress in different regions of brain in epilepsy rat model.
Genetic Diseases, Inborn
Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): Experience with four independent CDT analysis methods - misleading results given by the %CDT TIA assay.
Glioblastoma
Epigenetic status of argininosuccinate synthetase and argininosuccinate lyase modulates autophagy and cell death in glioblastoma.
Glioblastoma
Targeting Arginine-Dependent Cancers with Arginine-Degrading Enzymes: Opportunities and Challenges.
Glioma
KLF7 promotes polyamine biosynthesis and glioma development through transcriptionally activating ASL.
Hepatitis
Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): Experience with four independent CDT analysis methods - misleading results given by the %CDT TIA assay.
Hepatitis
Serum and erythocyte argininosuccinate lyase assay by NADH fluorescence generated from formed fumarate.
Hepatitis
[Studies on the diagnostic value of various enzymatic activties in icterogenic hepatitis of infancy. II. Sorbitol dehydrogenase, guanase and argininosuccinate lyase]
Hepatitis, Chronic
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.
Hepatomegaly
A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.
Hepatomegaly
Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): Experience with four independent CDT analysis methods - misleading results given by the %CDT TIA assay.
Hepatomegaly
Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency.
Hepatomegaly
Severe liver fibrosis in argininosuccinic aciduria.
Hyperargininemia
A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
Hyperargininemia
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Hyperargininemia
Genetic approach to prenatal diagnosis in urea cycle defects.
Hyperargininemia
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Hyperargininemia
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Hyperargininemia
Molecular diagnosis of urea cycle disorders: current global scenario.
Hyperargininemia
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Hyperglycinemia, Nonketotic
Clinical and genetic diversity of congenital hyperammonemia.
Hyperlipoproteinemia Type I
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Hypertension
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
Hypoalphalipoproteinemias
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Insulin Resistance
Reversal of endothelial dysfunction in aorta of streptozotocin-nicotinamide-induced type-2 diabetic rats by S-Allylcysteine.
Insulinoma
Citrulline-argininosuccinate-arginine cycle coupled to Ca2+-signaling in rat pancreatic beta-cells.
Intellectual Disability
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Intraabdominal Infections
Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
Kidney Neoplasms
Targeting Arginine-Dependent Cancers with Arginine-Degrading Enzymes: Opportunities and Challenges.
Leukemia
Arginine depriving enzymes: applications as emerging therapeutics in cancer treatment.
lipoprotein lipase deficiency
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Liver Cirrhosis
Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency.
Liver Diseases
An enzymatic method for the assay of serum argininosuccinate lyase.
Liver Diseases
Argininosuccinate lyase: a new autoantigen in liver disease.
Liver Diseases
Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.
Liver Diseases
Evaluation of serum argininosuccinate lyase (ASAL) concentrations as an index to parenchymal liver disease.
Liver Diseases
Study of serum argininosuccinate lyase determination for diagnosis of liver diseases.
Liver Diseases
[Determination of serum argininosuccinate lyase in diagnosing liver diseases]
Liver Neoplasms
Argininosuccinate lyase is a potential therapeutic target in breast cancer.
Malaria
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Maple Syrup Urine Disease
Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry.
Megalencephaly
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Melanoma
Pegylated arginine deiminase (ADI-SS PEG20,000 mw) inhibits human melanomas and hepatocellular carcinomas in vitro and in vivo.
Metabolism, Inborn Errors
Population screening in a Druze community: the challenge and the reward.
Migraine Disorders
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Muscular Diseases
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Neoplasms
Argininosuccinate lyase interacts with cyclin A2 in cytoplasm and modulates growth of liver tumor cells.
Neoplasms
Argininosuccinate lyase is a metabolic vulnerability in breast development and cancer.
Neoplasms
Argininosuccinate lyase is a potential therapeutic target in breast cancer.
Neoplasms
Attenuation of argininosuccinate lyase inhibits cancer growth via cyclin A2 and nitric oxide.
Neoplasms
Recombinant human arginase inhibits proliferation of human hepatocellular carcinoma by inducing cell cycle arrest.
Neoplasms
Reversed argininosuccinate lyase activity in fumarate hydratase-deficient cancer cells.
Neoplasms
Urea cycle pathway targeted therapeutic action of naringin against ammonium chloride induced hyperammonemic rats.
ornithine carbamoyltransferase deficiency
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
ornithine carbamoyltransferase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
ornithine carbamoyltransferase deficiency
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
ornithine carbamoyltransferase deficiency
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
ornithine carbamoyltransferase deficiency
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
ornithine carbamoyltransferase deficiency
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
ornithine carbamoyltransferase deficiency
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
ornithine carbamoyltransferase deficiency
Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
Ornithine Carbamoyltransferase Deficiency Disease
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
Ornithine Carbamoyltransferase Deficiency Disease
Genetic approach to prenatal diagnosis in urea cycle defects.
Ornithine Carbamoyltransferase Deficiency Disease
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Ornithine Carbamoyltransferase Deficiency Disease
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
Ornithine Carbamoyltransferase Deficiency Disease
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Ornithine Carbamoyltransferase Deficiency Disease
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Ornithine Carbamoyltransferase Deficiency Disease
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Ornithine Carbamoyltransferase Deficiency Disease
Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
Osteoporosis
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Pancytopenia
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
pantoate-beta-alanine ligase (amp-forming) deficiency
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
pantoate-beta-alanine ligase (amp-forming) deficiency
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
pantoate-beta-alanine ligase (amp-forming) deficiency
Prospective treatment of urea cycle disorders.
Phenylketonurias
Application of electrospray tandem mass spectrometry to neonatal screening.
Posterior Leukoencephalopathy Syndrome
Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
Prolidase Deficiency
Population screening in a Druze community: the challenge and the reward.
Propionic Acidemia
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Refeeding Syndrome
Refeeding syndrome in a young woman with argininosuccinate lyase deficiency.
Renal Insufficiency
Urea cycle and protein content in leucocytes from normal persons and uraemics.
Rickets
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Sialic Acid Storage Disease
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Starvation
Deletion analysis of the ARG4 promoter of Saccharomyces cerevisiae: a poly(dAdT) stretch involved in gene transcription.
Thrombosis
Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
Tuberculosis
Biochemical characterization of argininosuccinate lyase from M. tuberculosis: significance of a c-terminal cysteine in catalysis and thermal stability.
Tuberculosis
Cloning, expression, purification, crystallization and preliminary X-ray studies of argininosuccinate lyase (Rv1659) from Mycobacterium tuberculosis.
Tuberculosis
Crystal structure and biochemical study on argininosuccinate lyase from Mycobacterium tuberculosis.
Tuberculosis
Structural studies on M. tuberculosis argininosuccinate lyase and its liganded complex: Insights into catalytic mechanism.
Urea Cycle Disorders, Inborn
A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
Urea Cycle Disorders, Inborn
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
Urea Cycle Disorders, Inborn
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
Urea Cycle Disorders, Inborn
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
Urea Cycle Disorders, Inborn
Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures.
Urea Cycle Disorders, Inborn
Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.
Urea Cycle Disorders, Inborn
Argininosuccinic Aciduria-A Rare Indication for Liver Transplant: Report of Two Cases.
Urea Cycle Disorders, Inborn
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
Urea Cycle Disorders, Inborn
Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ.
Urea Cycle Disorders, Inborn
Free Radical Scavengers Prevent Argininosuccinic Acid-Induced Oxidative Stress in the Brain of Developing Rats: a New Adjuvant Therapy for Argininosuccinate Lyase Deficiency?
Urea Cycle Disorders, Inborn
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.
Urea Cycle Disorders, Inborn
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.
Urea Cycle Disorders, Inborn
One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency.
Urea Cycle Disorders, Inborn
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.
Urea Cycle Disorders, Inborn
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
Uterine Cervical Neoplasms
Recombinant Bacillus caldovelox Arginase Mutant (BCA-M) Induces Apoptosis, Autophagy, Cell Cycle Arrest and Growth Inhibition in Human Cervical Cancer Cells.
von Hippel-Lindau Disease
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
xaa-pro dipeptidase deficiency
Population screening in a Druze community: the challenge and the reward.
Xanthomatosis, Cerebrotendinous
Population screening in a Druze community: the challenge and the reward.
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Matuo, S.; Tatsuno, M.; Kobayashi, K.; Saheki, T.; Miyata, T.; Iwanaga, S.; Amaya, Y.; Mori, M.
Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence
FEBS Lett.
234
395-399
1988
Homo sapiens
brenda
Miura, T.; Kashiwamura, M.; Kimura, M.
An enzymatic method for the assay of serum argininosuccinate lyase
Anal. Biochem.
164
482-487
1987
Homo sapiens, Sus scrofa
brenda
O'Brien, W.E.; McInnes, R.; Kalumuck, K.; Adcock, M.
Cloning and sequence analysis of cDNA for human argininosuccinate lyase
Proc. Natl. Acad. Sci. USA
83
7211-7215
1986
Saccharomyces cerevisiae, Homo sapiens
brenda
Palekar, A.G.; Mantagos, S.
Human liver arginiosuccinase purification and partial characterization
J. Biol. Chem.
256
9192-9194
1981
Homo sapiens
brenda
O'Brien, W.E.; Barr, R.H.
Argininosuccinate lyase: purification and characterization from human liver
Biochemistry
20
2056-2060
1981
Homo sapiens
brenda
Turner, M.A.; Achyuthan, A.M.; Hershfield, M.S.; McInnes, R.R.; Howell, P.L.
Expression, purification, crystallization and preliminary X-ray analysis of human argininosuccinic acid lyase
J. Mol. Biol.
239
336-338
1994
Homo sapiens
brenda
Chakraborty, A.R.; Davidson, A.; Howell, P.L.
Mutational analysis of amino acid residues involved in argininosuccinate lyase activity in duck delta II crystallin
Biochemistry
38
2435-2443
1999
Anas platyrhynchos, Homo sapiens
brenda
Sampaleanu, L.M.; Vallee, F.; Thompson, G.D.; Howell, P.L.
Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R
Biochemistry
40
15570-15580
2001
Homo sapiens
brenda
Yu, B.; Thompson, G.D.; Yip, P.; Howell, P.L.; Davidson, A.R.
Mechanisms for intragenic complementation at the human argininosuccinate lyase locus
Biochemistry
40
15581-15590
2001
Homo sapiens
brenda
Yu, B.; Howell, P.L.
Intragenic complementation and the structure and function of argininosuccinate lyase
Cell. Mol. Life Sci.
57
1637-1651
2000
Homo sapiens
brenda
Linnebank, M.; Homberger, A.; Rapp, B.; Winter, C.; Marquardt, T.; Harms, E.; Koch, H.G.
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene
J. Inherit. Metab. Dis.
23
308-312
2000
Homo sapiens
brenda
Lam, T.L.; Wong, G.K.; Chong, H.C.; Cheng, P.N.; Choi, S.C.; Chow, T.L.; Kwok, S.Y.; Poon, R.T.; Wheatley, D.N.; Lo, W.H.; Leung, Y.C.
Recombinant human arginase inhibits proliferation of human hepatocellular carcinoma by inducing cell cycle arrest
Cancer Lett.
277
91-100
2009
Homo sapiens
brenda
Mitchell, S.; Ellingson, C.; Coyne, T.; Hall, L.; Neill, M.; Christian, N.; Higham, C.; Dobrowolski, S.F.; Tuchman, M.; Summar, M.; Summar, M.
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases
Hum. Mutat.
30
56-60
2009
Homo sapiens
brenda
Feng, J.F.; Chen, T.M.; Wen, Y.A.; Wang, J.; Tu, Z.G.
Study of serum argininosuccinate lyase determination for diagnosis of liver diseases
J. Clin. Lab. Anal.
22
220-227
2008
Homo sapiens
brenda
Nagasaka, H.; Tsukahara, H.; Yorifuji, T.; Miida, T.; Murayama, K.; Tsuruoka, T.; Takatani, T.; Kanazawa, M.; Kobayashi, K.; Okano, Y.; Takayanagi, M.
Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects
Metab. Clin. Exp.
58
278-282
2009
Homo sapiens
brenda
Trevisson, E.; Burlina, A.; Doimo, M.; Pertegato, V.; Casarin, A.; Cesaro, L.; Navas, P.; Basso, G.; Sartori, G.; Salviati, L.
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations
J. Biol. Chem.
284
28926-28934
2009
Saccharomyces cerevisiae, Homo sapiens (P04424), Homo sapiens
brenda
Mercimek-Mahmutoglu, S.; Moeslinger, D.; Haeberle, J.; Engel, K.; Herle, M.; Strobl, M.W.; Scheibenreiter, S.; Muehl, A.; Stoeckler-Ipsiroglu, S.
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria
Mol. Genet. Metab.
100
24-28
2010
Homo sapiens
brenda
Neill, M.A.; Aschner, J.; Barr, F.; Summar, M.L.
Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues
Mol. Genet. Metab.
97
121-127
2009
Homo sapiens
brenda
Zhao, S.; Xu, W.; Jiang, W.; Yu, W.; Lin, Y.; Zhang, T.; Yao, J.; Zhou, L.; Zeng, Y.; Li, H.; Li, Y.; Shi, J.; An, W.; Hancock, S.; He, F.; Qin, L.; Chin, J.; Yang, P.; Chen, X.; Lei, Q.; Xiong, Y.; Guan, K.
Regulation of cellular metabolism by protein lysine acetylation
Science
327
1000-1004
2010
Homo sapiens
brenda
Chen, Y.H.; Lee, M.T.; Cheng, Y.W.; Chou, W.Y.; Yu, C.M.; Lee, H.J.
Distinct interactions of alphaA-crystallin with homologous substrate proteins, delta-crystallin and argininosuccinate lyase, under thermal stress
Biochimie
93
314-320
2011
Homo sapiens
brenda
Engel, K.; Vuissoz, J.; Eggimann, S.; Groux, M.; Berning, C.; Hu, L.; Klaus, V.; Moeslinger, D.; Mercimek-Mahmutoglu, S.; Stckler, S.; Wermuth, B.; Hberle, J.; Nuoffer, J.
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria
J. Inherit. Metab. Dis.
35
133-140
2012
Homo sapiens
brenda
Zheng, L.; Mackenzie, E.D.; Karim, S.A.; Hedley, A.; Blyth, K.; Kalna, G.; Watson, D.G.; Szlosarek, P.; Frezza, C.; Gottlieb, E.
Reversed argininosuccinate lyase activity in fumarate hydratase-deficient cancer cells
Cancer Metab.
1
12
2013
Homo sapiens, Mus musculus
brenda
Erez, A.; Nagamani, S.C.; Shchelochkov, O.A.; Premkumar, M.H.; Campeau, P.M.; Chen, Y.; Garg, H.K.; Li, L.; Mian, A.; Bertin, T.K.; Black, J.O.; Zeng, H.; Tang, Y.; Reddy, A.K.; Summar, M.; OBrien, W.E.; Harrison, D.G.; Mitch, W.E.; Marini, J.C.; Aschner, J.L.; Bryan, N.S.; Lee, B.
Requirement of argininosuccinate lyase for systemic nitric oxide production
Nat. Med.
17
1619-1626
2011
Homo sapiens, Mus musculus
brenda
Hu, L.; Pandey, A.V.; Balmer, C.; Eggimann, S.; Ruefenacht, V.; Nuoffer, J.M.; Haeberle, J.
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria
J. Inherit. Metab. Dis.
38
815-827
2015
Homo sapiens (P04424), Homo sapiens
brenda
Huang, H.L.; Chen, W.C.; Hsu, H.P.; Cho, C.Y.; Hung, Y.H.; Wang, C.Y.; Lai, M.D.
Argininosuccinate lyase is a potential therapeutic target in breast cancer
Oncol. Rep.
34
3131-3139
2015
Homo sapiens (P04424), Homo sapiens
brenda
Hung, Y.H.; Huang, H.L.; Chen, W.C.; Yen, M.C.; Cho, C.Y.; Weng, T.Y.; Wang, C.Y.; Chen, Y.L.; Chen, L.T.; Lai, M.D.
Argininosuccinate lyase interacts with cyclin A2 in cytoplasm and modulates growth of liver tumor cells
Oncol. Rep.
37
969-978
2017
Homo sapiens (P04424)
brenda
4.3.2.1 argininosuccinate lyase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
