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Disease on EC 4.3.2.1 - argininosuccinate lyase

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DISEASE
TITLE OF PUBLICATION
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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.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
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.
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
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.
A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
An investigation of argininosuccinic acid anhydrides in argininosuccinic acid lyase deficiency by 1H-NMR spectroscopy.
Application of electrospray tandem mass spectrometry to neonatal screening.
Arginine as an essential amino acid in children with argininosuccinase deficiency.
Arginine therapy of argininosuccinase deficiency.
Argininosuccinase deficiency in a premature infant.
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 Causes an Endothelial-Dependent Form of Hypertension.
Argininosuccinate lyase deficiency.
Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting.
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
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.
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency.
Chronic coagulopathy in a patient with argininosuccinase deficiency.
Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.
Chronic liver involvement in urea cycle disorders.
Citrate therapy in argininosuccinate lyase deficiency.
Clinical and genetic analysis of five Chinese patients with urea cycle disorders.
Clinical and genetic diversity of congenital hyperammonemia.
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
Complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
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.
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.
Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency.
Early dietary management in an infant with argininosuccinase deficiency: preliminary report.
Earwax: A potentially useful medium to identify inborn errors of metabolism?
Free Radical Scavengers Prevent Argininosuccinic Acid-Induced Oxidative Stress in the Brain of Developing Rats: a New Adjuvant Therapy for Argininosuccinate Lyase Deficiency?
Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
Genetic approach to prenatal diagnosis in urea cycle defects.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.
Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship.
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.
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.
Mild variant of argininosuccinic aciduria.
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Neonatal screening for citrullinaemia.
One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Population screening in a Druze community: the challenge and the reward.
Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency.
Prospective treatment of urea cycle disorders.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry.
Refeeding syndrome in a young woman with argininosuccinate lyase deficiency.
Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
Role of the clinical laboratory in evaluation of argininosuccinate lyase deficiency.
Screening blood spots for argininosuccinase deficiency by electrospray tandem mass spectrometry.
Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: a study in a 5-year-old patient under total parenteral nutrition.
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Successful liver transplantation for argininosuccinate lyase deficiency (ASLD).
Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency.
Sustained Engraftment and Tissue Enzyme Activity After Liver Cell Transplantation for Argininosuccinate Lyase Deficiency.
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.
Two cases suggesting a role for the L-arginine nitric oxide pathway in neonatal blood pressure regulation.
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
Ultrastructural study of the liver in argininosuccinase deficiency.
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Urea cycle disorders in Thai infants: a report of 5 cases.
Usefulness of magnetic resonance spectroscopy in urea cycle disorders.
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency.
[Argininosuccinate lyase deficiency]
[Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].
[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.
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country.
Clinical and genetic diversity of congenital hyperammonemia.
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.
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Prospective treatment of urea cycle disorders.
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
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.
A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria.
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
An investigation of argininosuccinic acid anhydrides in argininosuccinic acid lyase deficiency by 1H-NMR spectroscopy.
Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.
Application of electrospray tandem mass spectrometry to neonatal screening.
Arginine as an essential amino acid in children with argininosuccinase deficiency.
Arginine therapy of argininosuccinase deficiency.
Argininosuccinase deficiency in a premature infant.
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
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 Causes an Endothelial-Dependent Form of Hypertension.
Argininosuccinate lyase deficiency.
Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting.
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
Argininosuccinate lyase levels in blood, liver and cultured fibroblasts of a patient with 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 Acid Lyase Deficiency Missed by Newborn Screen.
Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts.
Argininosuccinic Aciduria-A Rare Indication for Liver Transplant: Report of Two Cases.
ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS.
Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.
Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children.
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency.
Chronic coagulopathy in a patient with argininosuccinase deficiency.
Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.
Chronic liver involvement in urea cycle disorders.
Citrate therapy in argininosuccinate lyase deficiency.
Clinical and genetic analysis of five Chinese patients with urea cycle disorders.
Clinical and genetic diversity of congenital hyperammonemia.
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
Complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
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.
Deficient argininosuccinase activity in brain in argininosuccinicaciduria.
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.
Determination of amino acid profile for argininosuccinic aciduria disorder using High-Performance Liquid Chromatography with fluorescence detection.
Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency.
Early dietary management in an infant with argininosuccinase deficiency: preliminary report.
Earwax: A potentially useful medium to identify inborn errors of metabolism?
Free Radical Scavengers Prevent Argininosuccinic Acid-Induced Oxidative Stress in the Brain of Developing Rats: a New Adjuvant Therapy for Argininosuccinate Lyase Deficiency?
Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay.
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.
Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
Genetic approach to prenatal diagnosis in urea cycle defects.
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.
Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship.
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.
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.
Mild variant of argininosuccinic aciduria.
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria.
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.
Neonatal screening for citrullinaemia.
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Population screening in a Druze community: the challenge and the reward.
Prenatal diagnosis of argininosuccinic aciduria: effect of mycoplasma contamination on the indirect assay for argininosuccinate lyase.
Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency.
Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy.
Prospective treatment of urea cycle disorders.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry.
Refeeding syndrome in a young woman with argininosuccinate lyase deficiency.
Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
Role of the clinical laboratory in evaluation of argininosuccinate lyase deficiency.
Screening blood spots for argininosuccinase deficiency by electrospray tandem mass spectrometry.
Serum and erythocyte argininosuccinate lyase assay by NADH fluorescence generated from formed fumarate.
Severe liver fibrosis in argininosuccinic aciduria.
Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: a study in a 5-year-old patient under total parenteral nutrition.
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Successful liver transplantation for argininosuccinate lyase deficiency (ASLD).
Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency.
Sustained Engraftment and Tissue Enzyme Activity After Liver Cell Transplantation for Argininosuccinate Lyase Deficiency.
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.
Two cases suggesting a role for the L-arginine nitric oxide pathway in neonatal blood pressure regulation.
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
Ultrastructural study of the liver in argininosuccinase deficiency.
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 disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Urea cycle disorders in Thai infants: a report of 5 cases.
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.
Usefulness of magnetic resonance spectroscopy in urea cycle disorders.
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency.
[Argininosuccinate lyase deficiency]
[Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].
[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.
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.
Argininosuccinate lyase is a potential therapeutic target in breast cancer.
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
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.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Population screening in a Druze community: the challenge and the reward.
Prospective treatment of urea cycle disorders.
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.
Down-regulation of argininosuccinate lyase induces hepatoma cell apoptosis through activating Bax signaling pathway.
Molecular cloning of cDNA for rat argininosuccinate lyase and its expression in rat hepatoma cell lines.
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.
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
Application of electrospray tandem mass spectrometry to neonatal screening.
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country.
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.
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry.
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Molecular diagnosis of urea cycle disorders: current global scenario.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Prospective treatment of urea cycle disorders.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
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.
Arginine therapy of argininosuccinase deficiency.
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.
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.
Serum and erythocyte argininosuccinate lyase assay by NADH fluorescence generated from formed fumarate.
[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.
Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): Experience with four independent CDT analysis methods - misleading results given by the %CDT TIA assay.
Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency.
Severe liver fibrosis in argininosuccinic aciduria.
Hyperargininemia
A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Molecular diagnosis of urea cycle disorders: current global scenario.
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.
Argininosuccinate lyase: a new autoantigen in liver disease.
Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.
Evaluation of serum argininosuccinate lyase (ASAL) concentrations as an index to parenchymal liver disease.
Study of serum argininosuccinate lyase determination for diagnosis of 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.
Argininosuccinate lyase is a metabolic vulnerability in breast development and cancer.
Argininosuccinate lyase is a potential therapeutic target in breast cancer.
Attenuation of argininosuccinate lyase inhibits cancer growth via cyclin A2 and nitric oxide.
Recombinant human arginase inhibits proliferation of human hepatocellular carcinoma by inducing cell cycle arrest.
Reversed argininosuccinate lyase activity in fumarate hydratase-deficient cancer cells.
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.
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
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.
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
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.
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
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.
Cloning, expression, purification, crystallization and preliminary X-ray studies of argininosuccinate lyase (Rv1659) from Mycobacterium tuberculosis.
Crystal structure and biochemical study on argininosuccinate lyase from Mycobacterium 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.
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
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-A Rare Indication for Liver Transplant: Report of Two Cases.
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ.
Free Radical Scavengers Prevent Argininosuccinic Acid-Induced Oxidative Stress in the Brain of Developing Rats: a New Adjuvant Therapy for Argininosuccinate Lyase Deficiency?
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.
One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency.
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.
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.