arginine and ARG1 Deficiency

arginine has been researched along with ARG1 Deficiency in 81 studies

Research

Studies (81)

Timeframe	Studies, this research(%)	All Research%
pre-1990	32 (39.51)	18.7374
1990's	15 (18.52)	18.2507
2000's	14 (17.28)	29.6817
2010's	11 (13.58)	24.3611
2020's	9 (11.11)	2.80

Authors

Authors	Studies
Fukuhara, S; Nakajima, H	1
Bechter, M; Cederbaum, SD; Diaz, GA	1
Allegri, G; Burke, KE; Cederbaum, SD; Häberle, J; Lipshutz, GS; Liu, XB; Martini, PGV; Truong, B; Zhu, X	1
Fukui, K; Hanai, T; Ishibashi, H; Matsufuji, M; Nakashima, M; Takashima, S; Takeshita, E; Watanabe, Y	1
Gan, Q; Tang, R; Wang, F; Wang, G; Wang, X; Yang, C; Zhang, F; Zhang, J; Zhang, Q; Zhao, L; Zhao, S; Zhou, J	1
Amalakanti, S; Daggumati, R; Nagarjunakonda, S	1
Arnold, H; Atreya, R; Baier, J; Bogdan, C; Daniel, C; Dettmer, K; Ekici, A; Gänsbauer, M; Giessler, C; Hartmann, A; Lukassen, S; Mattner, J; Muske, M; Oefner, PJ; Rauh, M; Schleicher, U; Schmid, B; Tripal, P; Wirtz, S	1
Balasco, N; Ruggiero, A; Smaldone, G; Vitagliano, L	1
Bannick, A; Batzios, S; Bubb, G; Diaz, GA; Enns, GM; Leão-Teles, E; McNutt, MC; Merritt, JL; Potts, SL; Quinn, AG; Schulze, A; Sloan, LS; Zori, RT	1
Afrantou, T; Bakirtzis, C; Boziki, MK; Grigoriadis, N; Smyrni, N	1
Cederbaum, SD; Currier, R; Grimm, M; Lapidus, D; Therrell, BL	1
Burgard, P; Cederbaum, S; Cuthbertson, D; Holbert, A; McCarter, R; Waisbren, SE	1
Asrani, KH; Cheng, CJ; Cheng, L; Subramanian, RR	1
Dalmedico, L; Delwing-Dal Magro, D; Delwing-de Lima, D; Sasso, S; Wyse, AT	1
Ensenauer, R; Häussinger, D; Mayatepek, E; Schlune, A; Vom Dahl, S	1
Ding, Y; Li, M; Li, X; Liu, Y; Qin, Y; Song, J; Wang, Q; Wu, T; Yang, Y	1
Alters, SE; Burrage, LC; Elsea, SH; Frankel, AE; Georgiou, G; Jiang, MM; Johnson, DE; Lee, BH; Nagamani, SC; Rowlinson, SW; Stone, E; Sun, Q	1
Eichinger-Öttl, U; Ertl, C; Haberlandt, E; Häberle, J; Heinz-Erian, P; Karall, D; Rostásy, K; Scholl-Bürgi, S; Sigl, SB	1
Gomes Martins, E; Santos Silva, E; Saudubray, JM; Vilarinho, L; Vilarinho, S	1
Kaminsky, YG; Kosenko, EA	1
Brand, GD; Brum, JM; Carvalho, DR; Pratesi, R; Speck-Martins, CE; Takata, RI	1
Delwing, D; Dutra-Filho, CS; Wajner, M; Wannmacher, CM; Wyse, AT	1
Cederbaum, SD; Cox, GF; Degirolami, U; Kern, RM; Levy, HL; Ligon, KL; Marsden, D; Picker, JD; Puga, AC; Shih, VE	1
Bavaresco, CS; Calcagnotto, T; Delwing, D; Lamers, ML; Tagliari, B; Wajner, M; Wannmacher, CM; Wyse, AT	1
Bazer, FW; Jaeger, LA; Rhoads, JM; Wu, G	1
Brunetti-Pierri, N; Carter, S; Garlick, P; Jahoor, F; Kleppe, S; Lee, B; Marini, J; O'Brien, W; Scaglia, F	1
Calafat, J; Canchado, J; Doschko, G; Eichmann, K; Fuentes, JM; Gil-Lamaignere, C; Goerner, M; Ho, AD; Luckner, C; Modolell, M; Mollinedo, F; Müller, FM; Munder, M; Soler, G	1
Delwing, D; Gonçalves, MC; Sarkis, JJ; Wyse, AT	1
Chiarani, F; Delwing, D; Tagliari, B; Wajner, M; Wannmacher, CM; Wyse, AT	1
Brosnan, JT; Brosnan, ME	1
Akinci, A; Alkan, A; Firat, AK; Güngör, S; Tabel, Y	1
Colombo, JP; Konarska, L; von Fellenberg, R; Wiesmann, U	1
Cederbaum, SD; Rice, SC; Spector, EB	1
Larochelle, J; Lemieux, B; Letarte, J; Ouellet, R; Qureshi, IA	1
Endres, W; Schaller, R; Shin, YS	1
Adriaenssens, K; Karcher, D; Lowenthal, A; Marescau, B; Terheggen, HC; Van Broeckhoven, C	1
Batshaw, ML	1
Cederbaum, SD; Naylor, EW	1
Carter, M; Cederbaum, SD; Moedjono, SJ; Naylor, E; Shaw, KN; Walzer, M	1
Colombo, JP; Lowenthal, A; Terheggen, HG	1
Kubota, K; Murakami, T; Yamashita, F; Yoshida, I; Yoshino, M	1
Alderweireldt, F; Esmans, E; Lowenthal, A; Marescau, B; Terheggen, HG	1
Böhles, HJ; Demirkol, M; Herwig, J; Sewell, AC	1
Jakobs, C; Lambert, M; Matsuda, I; Qureshi, IA; Sansaricq, C; Shapira, SK; Smit, LM; Snyderman, SE; Uchino, T	1
Leonard, JV; Patel, JS; van't Hoff, WV	1
Cederbaum, SD; Goodman, BK; Grody, WW; Kang, DS; Kern, RM; Tabor, DE; Vockley, JG; Wissmann, PB	1
Caruso, U; Cerone, R; Ciccone, O; Gatti, R; Schiaffino, MC	1
Bebin, B; Bekri, S; Candito, M; Chambon, P; Kamoun, P; Rabier, D; Sebag, F; Vianey-Saban, C	1
Braga, AC; Ferreira, E; Rocha, H; Vilarinho, L	1
Ampola, MG; Breen, JC; Prasad, AN; Rosman, NP	1
Cederbaum, S; Grody, WW; Iyer, R; Jenkinson, CP; Kern, RM; Vockley, JG	1
Bowling, FG; Cowley, DM; McGill, JJ; Morris, D; van Dongen, J	1
Morris, SM; O'Brien, WE; Porter, CW; Shi, O; Zoghbi, H	1
Matsuura, T	1
Bavaresco, CS; Delwing, D; Hagen, ME; Severo Dutra-Filho, C; Wajner, M; Wannmacher, CM; Wyse, AT	1
Colombo, JP; Lavinha, F; Lowenthal, A; Rogers, S; Terheggen, HG	1
Goldstein, F; Norton, PM; Sansaricq, C; Snyderman, SE	1
Cederbaum, SD; Shaw, KN; Snodgrass, PJ; Spector, EB; Sugarman, GI; Verity, MA	1
Beaudet, AL; Michels, VV	1
Clara, R; Lavinha, F; Lowenthal, A; Mortelmans, J; Terheggen, HG; Wiechert, P	1
Chen, WJ; Norton, PM; Phansalkar, SV; Sansaricq, C; Snyderman, SE	1
Cederbaum, SD; Shaw, KN; Valente, M	1
Leroy, JG; Van Elsen, AF	1
Nakao, T; Oyanagi, K; Sogawa, H	1
Clara, R; Mardens, Y; Strauven, T; Terheggen, H	1
Colombo, JP; Lavinha, F; Lowenthal, A; Terheggen, HG	1
Adriaenssens, K; Karcher, D; Lowenthal, A; Terheggen, HG	1
Shimizu, H	1
Aparicio, JM; Haraguchi, Y; Higashikawa, M; Matsuda, I; Mizutani, N; Mori, M; Naitoh, H; Uchino, T	1
Antonozzi, I; Bachmann, C; Cederbaum, SD; Cerone, R; Chamoles, N; Colombo, JP; De Deyn, PP; Lowenthal, A; Marescau, B; Qureshi, IA	1
Aono, S; Hayakawa, C; Ikemoto, M; Kashiwamata, S; Keino, H; Mizutani, N; Murachi, T; Totani, M; Watanabe, K	1
Barbosa, C; Kamoun, P; Parvy, P; Rabier, D; Senra, V; Vilarinho, A; Vilarinho, L	1
De Deyn, PP; Lowenthal, A; Marescau, B; Wiechert, P	1
García-Piño, J; Jordá, A; Portolés, M; Rubio, V; Vilas, J	1
Cederbaum, SD; Dizikes, GJ; Grody, WW	1
Hayakawa, C; Maehara, M; Mizutani, N; Watanabe, K	1
Capdevila, A; García-Piño, J; Jordá, A; Portolés, M; Rubio, V; Vilas, J	1
Konarska, L	1
Bernar, J; Cederbaum, SD; Hanson, RA; Kern, R; Phoenix, B; Shaw, KN	1
De Deyn, P; Letarte, J; Lowenthal, A; Marescau, B; Qureshi, IA; Ryba, R	1
Colombo, JP; Konarska, L; Terheggen, HG; Tomaszewski, L	1

Reviews

9 review(s) available for arginine and ARG1 Deficiency

Article	Year
The role and control of arginine levels in arginase 1 deficiency. Journal of inherited metabolic disease, 2023, Volume: 46, Issue:1 Topics: Arginase; Arginine; Child, Preschool; Humans; Hyperammonemia; Hyperargininemia; Urea Cycle Disorders, Inborn	2023
Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature. Amino acids, 2015, Volume: 47, Issue:9 Topics: Arginase; Arginine; Child, Preschool; Female; Guanidine; Humans; Hyperammonemia; Hyperargininemia; Infant; Liver Diseases; Paraplegia; Seizures	2015
Arginine deficiency in preterm infants: biochemical mechanisms and nutritional implications. The Journal of nutritional biochemistry, 2004, Volume: 15, Issue:8 Topics: Animals; Arginine; Argininosuccinate Lyase; Argininosuccinate Synthase; Citrulline; Deficiency Diseases; Female; Glucocorticoids; Humans; Hydrocortisone; Hyperargininemia; Infant, Newborn; Infant, Premature; Intestinal Mucosa; Intestines; Nutritional Requirements; Ornithine-Oxo-Acid Transaminase; Pregnancy	2004
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. The Journal of nutrition, 2004, Volume: 134, Issue:10 Suppl Topics: Animals; Arginine; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase I Deficiency Disease; Enzymes; Humans; Hyperargininemia; Isoenzymes; Metabolism, Inborn Errors; Nitric Oxide; Urea	2004
Orotic acid excretion and arginine metabolism. The Journal of nutrition, 2007, Volume: 137, Issue:6 Suppl 2 Topics: Arginine; Humans; Hyperargininemia; Orotic Acid	2007
Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. Journal of child neurology, 1997, Volume: 12, Issue:5 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Arginase; Arginine; Atrophy; Cerebellum; Cerebral Cortex; Cerebral Palsy; Child; Child, Preschool; Cognition Disorders; Dietary Proteins; Disease Progression; Fatal Outcome; Female; Follow-Up Studies; Humans; Hyperargininemia; Male; Microcephaly; Models, Neurological; Muscle Spasticity; Neurodegenerative Diseases; Seizures; Treatment Outcome; Vomiting	1997
The human arginases and arginase deficiency. Journal of inherited metabolic disease, 1998, Volume: 21 Suppl 1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Arginase; Arginine; Cell Line; Humans; Hyperargininemia; Isoenzymes; Molecular Sequence Data	1998
[Argininemia]. Ryoikibetsu shokogun shirizu, 2001, Issue:33 Topics: Arginine; Humans; Hyperargininemia	2001
Hyperargininemia, epilepsy and the metabolism of guanidino compounds. Padiatrie und Grenzgebiete, 1989, Volume: 28, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Brain; Child; Epilepsy; Guanidines; Humans; Hyperargininemia	1989

Trials

1 trial(s) available for arginine and ARG1 Deficiency

Article	Year
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency. Journal of inherited metabolic disease, 2021, Volume: 44, Issue:4 Topics: Adolescent; Adult; Arginase; Arginine; Child; Child, Preschool; Disease Management; Female; Humans; Hyperammonemia; Hyperargininemia; Male; Recombinant Proteins; United States; Vomiting; Young Adult	2021

Other Studies

71 other study(ies) available for arginine and ARG1 Deficiency

Article	Year
Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of Journal of pediatric endocrinology & metabolism : JPEM, 2022, Jan-27, Volume: 35, Issue:1 Topics: Adolescent; Ammonia; Arginase; Arginine; Child; Female; Frameshift Mutation; Humans; Hyperargininemia; Siblings	2022
Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency. Proceedings of the National Academy of Sciences of the United States of America, 2019, 10-15, Volume: 116, Issue:42 Topics: Ammonia; Animals; Arginase; Arginine; Codon; Disease Models, Animal; Glutamine; Hyperammonemia; Hyperargininemia; Lipids; Liver; Liver Diseases; Male; Mice; Mice, Inbred C57BL; Nanoparticles; RNA, Messenger; Urea	2019
Sodium phenylbutyrate improved the clinical state in an adult patient with arginase 1 deficiency. Brain & development, 2020, Volume: 42, Issue:2 Topics: Adult; Arginase; Arginine; Female; Humans; Hyperammonemia; Hyperargininemia; Phenylbutyrates	2020
Defective arginine metabolism impairs mitochondrial homeostasis in Caenorhabditiselegans. Journal of genetics and genomics = Yi chuan xue bao, 2020, 03-20, Volume: 47, Issue:3 Topics: Adenosine Triphosphate; Animals; Arginase; Arginine; Caenorhabditis elegans; Cytosol; Disease Models, Animal; Homeostasis; Humans; Hyperargininemia; Mitochondria; Mutation	2020
Hyperargininemic Encephalopathy with Unique Clinical Presentation and Novel Genetic Mutations. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2020, Volume: 30, Issue:5 Topics: Adult; Arginase; Arginine; Humans; Hyperammonemia; Hyperargininemia; Male; Mutation	2020
Arginase impedes the resolution of colitis by altering the microbiome and metabolome. The Journal of clinical investigation, 2020, 11-02, Volume: 130, Issue:11 Topics: Animals; Arginase; Arginine; Endothelial Cells; Gastrointestinal Microbiome; Hematopoietic Stem Cells; Hyperargininemia; Inflammatory Bowel Diseases; Metabolome; Mice; Mice, Knockout	2020
Development of a Protein Scaffold for Arginine Sensing Generated through the Dissection of the Arginine-Binding Protein from International journal of molecular sciences, 2020, Oct-12, Volume: 21, Issue:20 Topics: Arginine; Bacterial Physiological Phenomena; Carrier Proteins; Hyperargininemia; Ligands; Models, Molecular; Mutation; Protein Binding; Protein Conformation; Protein Interaction Domains and Motifs; Structure-Activity Relationship; Thermotoga maritima	2020
Spastic gait, intellectual disability and seizures due to a rare mutation causing hyperargininemia. Clinical neurology and neurosurgery, 2021, Volume: 208 Topics: Arginine; Exome Sequencing; Gait Disorders, Neurologic; Humans; Hyperargininemia; Intellectual Disability; Male; Mutation; Seizures; Young Adult	2021
Newborn screening for hyperargininemia due to arginase 1 deficiency. Molecular genetics and metabolism, 2017, Volume: 121, Issue:4 Topics: Algorithms; Arginase; Arginine; California; Female; High-Throughput Screening Assays; Humans; Hyperargininemia; Incidence; Infant, Newborn; Male; Neonatal Screening; Sensitivity and Specificity; United States	2017
Biochemical markers and neuropsychological functioning in distal urea cycle disorders. Journal of inherited metabolic disease, 2018, Volume: 41, Issue:4 Topics: Adolescent; Adult; Ammonia; Arginine; Argininosuccinic Aciduria; Biomarkers; Child; Child, Preschool; Citrulline; Citrullinemia; Female; Glutamine; Humans; Hyperargininemia; Longitudinal Studies; Male; Middle Aged; Neuropsychological Tests; Young Adult	2018
Arginase I mRNA therapy - a novel approach to rescue arginase 1 enzyme deficiency. RNA biology, 2018, Volume: 15, Issue:7 Topics: Animals; Arginase; Arginine; Biological Therapy; HeLa Cells; Hep G2 Cells; Humans; Hyperargininemia; Male; Mice; Mice, Inbred C57BL; Mutation; RNA, Messenger; Urea	2018
Effect of N-acetylarginine, a metabolite accumulated in hyperargininemia, on parameters of oxidative stress in rats: protective role of vitamins and L-NAME. Cell biochemistry and function, 2014, Volume: 32, Issue:6 Topics: alpha-Tocopherol; Animals; Antioxidants; Arginine; Ascorbic Acid; Chromans; Hyperargininemia; Kidney Cortex; Kidney Medulla; Liver; NG-Nitroarginine Methyl Ester; Nitric Oxide Synthase; Oxidative Stress; Rats, Wistar; Sulfhydryl Compounds; Thiobarbituric Acid Reactive Substances; Vitamins	2014
[Seven patients of argininemia with spastic tetraplegia as the first and major symptom and prenatal diagnosis of two fetuses with high risk]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2015, Volume: 53, Issue:6 Topics: Abortion, Induced; Amniocentesis; Arginase; Arginine; Asian People; Child; Child, Preschool; Diet, Protein-Restricted; DNA Mutational Analysis; Exons; Female; Fetus; Genotype; Homozygote; Humans; Hyperammonemia; Hyperargininemia; Infant; Infant, Newborn; Male; Mutation; Phenotype; Pregnancy; Prenatal Diagnosis; Quadriplegia; Seizures	2015
Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Human molecular genetics, 2015, Nov-15, Volume: 24, Issue:22 Topics: Animals; Arginase; Arginine; Brain; Child; Child, Preschool; Cohort Studies; Disease Models, Animal; Female; Humans; Hyperammonemia; Hyperargininemia; Longitudinal Studies; Macaca fascicularis; Male; Mice; Mice, Inbred C57BL; Recombinant Proteins; Seizures	2015
Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. Journal of inherited metabolic disease, 2008, Volume: 31 Suppl 2 Topics: Adult; Amino Acids; Ammonia; Arginine; Biomarkers; Chromatography, Ion Exchange; Coma; Glutamine; Humans; Hyperammonemia; Hyperargininemia; Lysine; Male; Ornithine	2008
Neonatal cholestasis: an uncommon presentation of hyperargininemia. Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3 Topics: Amino Acids, Essential; Arginase; Arginine; Biomarkers; Child; Child Development; Child, Preschool; Cholestasis; Diet, Protein-Restricted; Disease Progression; End Stage Liver Disease; Female; Genetic Predisposition to Disease; Humans; Hyperargininemia; Hypertension, Portal; Infant; Infant, Newborn; Liver Cirrhosis, Biliary; Liver Transplantation; Neonatal Screening; Phenotype; Treatment Outcome	2010
Argocytes containing enzyme nanoparticles reduce toxic concentrations of arginine in the blood. Bulletin of experimental biology and medicine, 2012, Volume: 153, Issue:3 Topics: Animals; Arginase; Arginine; Cells, Cultured; Erythrocytes; Hyperargininemia; Mice; Nanoparticles; Nanotechnology	2012
Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. Gene, 2012, Nov-01, Volume: 509, Issue:1 Topics: Adolescent; Adult; Amino Acid Sequence; Amino Acid Substitution; Arginase; Arginine; Brazil; Catalytic Domain; Child; DNA Mutational Analysis; Enzyme Activation; Erythrocytes; Female; Genetic Association Studies; Humans; Hyperargininemia; Male; Models, Molecular; Molecular Sequence Data; Mutant Proteins; Mutation, Missense; Protein Conformation; Protein Folding; Protein Multimerization; Protein Structure, Quaternary; Sequence Homology, Amino Acid; Young Adult	2012
Arginine administration reduces catalase activity in midbrain of rats. Neuroreport, 2002, Jul-19, Volume: 13, Issue:10 Topics: Animals; Arginine; Catalase; Enzyme Inhibitors; Glutathione Peroxidase; Hyperargininemia; Mesencephalon; NG-Nitroarginine Methyl Ester; Rats; Rats, Wistar; Superoxide Dismutase	2002
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. The Journal of pediatrics, 2003, Volume: 142, Issue:3 Topics: Amino Acids, Basic; Ammonia; Arginase; Arginine; Brain Edema; Female; Glutamine; Humans; Hyperargininemia; Infant, Newborn; Kidney; Liver; Renal Dialysis	2003
Brain Na+,K(+)-ATPase inhibition induced by arginine administration is prevented by vitamins E and C. Neurochemical research, 2003, Volume: 28, Issue:6 Topics: Animals; Arginine; Ascorbic Acid; Hyperargininemia; Male; Mesencephalon; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Vitamin E	2003
Arginase I is constitutively expressed in human granulocytes and participates in fungicidal activity. Blood, 2005, Mar-15, Volume: 105, Issue:6 Topics: Animals; Antifungal Agents; Arginase; Arginine; Gene Expression Regulation, Enzymologic; Humans; Hyperargininemia; Isoenzymes; Macrophages; Mice; Microscopy, Electron, Transmission; Neutrophils; Nitric Oxide Synthase; Phagosomes; Secretory Vesicles; Species Specificity	2005
L-NAME administration prevents the inhibition of nucleotide hydrolysis by rat blood serum subjected to hyperargininemia. Amino acids, 2005, Volume: 29, Issue:3 Topics: Adenosine Diphosphate; Adenosine Monophosphate; Adenosine Triphosphate; Animals; Arginine; Hydrolysis; Hyperargininemia; In Vitro Techniques; Male; NG-Nitroarginine Methyl Ester; Nucleotides; Rats; Rats, Wistar	2005
Alpha-tocopherol and ascorbic acid administration prevents the impairment of brain energy metabolism of hyperargininemic rats. Cellular and molecular neurobiology, 2006, Volume: 26, Issue:2 Topics: alpha-Tocopherol; Animals; Antioxidants; Arginine; Ascorbic Acid; Electron Transport Complex II; Electron Transport Complex IV; Energy Metabolism; Female; Glucose; Hippocampus; Humans; Hyperargininemia; Lactic Acid; Rats; Rats, Wistar; Succinate Dehydrogenase	2006
Neuroimaging findings in hyperargininemia. Journal of neuroimaging : official journal of the American Society of Neuroimaging, 2008, Volume: 18, Issue:4 Topics: Arginine; Aspartic Acid; Atrophy; Basal Ganglia Cerebrovascular Disease; Brain Diseases; Cerebellum; Cerebral Cortex; Child, Preschool; Choline; Consanguinity; Creatine; Dominance, Cerebral; Energy Metabolism; Humans; Hyperargininemia; Image Processing, Computer-Assisted; Intellectual Disability; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Nerve Fibers, Myelinated; Putamen	2008
Isoenzyme pattern and immunological properties of arginase in normal and hyperargininemia fibroblasts. Enzyme, 1983, Volume: 29, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Cell Line; Child; Embryo, Mammalian; Female; Fibroblasts; Humans; Hyperargininemia; Immune Sera; Immunodiffusion; Infant, Newborn; Isoenzymes; Male; Pregnancy; Skin	1983
Immunologic studies of arginase in tissues of normal human adult and arginase-deficient patients. Pediatric research, 1983, Volume: 17, Issue:12 Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Brain; Chromosome Mapping; Digestive System; Erythrocytes; Genes; Humans; Hyperargininemia; Immunodiffusion; Kidney	1983
A new French-Canadian family affected by hyperargininaemia. Journal of inherited metabolic disease, 1983, Volume: 6, Issue:4 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Erythrocytes; Female; Humans; Hyperargininemia; Infant, Newborn; Male; Orotic Acid; Proteins	1983
Diagnosis and treatment of argininaemia. Characteristics of arginase in human erythrocytes and tissues. Journal of inherited metabolic disease, 1984, Volume: 7, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Dietary Proteins; Erythrocytes; Humans; Hyperargininemia; Infant; Male	1984
Hyperargininemia: the rat as a model for the human disease and the comparative response to enzyme replacement therapy with free arginase and arginase-loaded erythrocytes in vivo. The International journal of biochemistry, 1984, Volume: 16, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Arginine; Disease Models, Animal; Erythrocytes; Hemolysis; Humans; Hyperargininemia; Kinetics; Rats; Rats, Inbred Strains	1984
Hyperammonemia. Current problems in pediatrics, 1984, Volume: 14, Issue:11 Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Brain Edema; Carbamoyl-Phosphate Synthase (Ammonia); Child, Preschool; Citrulline; Diagnosis, Differential; Female; Humans; Hyperargininemia; Infant; Infant, Newborn; Leucine; Ornithine Carbamoyltransferase; Respiratory Distress Syndrome, Newborn; Urea	1984
Urinary pyrimidine excretion in arginase deficiency. Journal of inherited metabolic disease, 1981, Volume: 4, Issue:4 Topics: Adolescent; Ammonia; Arginine; Child; Child, Preschool; Chromatography, High Pressure Liquid; Humans; Hyperargininemia; Orotic Acid; Pseudouridine; Pyrimidines; Reference Values; Uracil; Uridine	1981
Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet. Journal of inherited metabolic disease, 1982, Volume: 5, Issue:2 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Child; Female; Food, Formulated; Humans; Hyperargininemia; Male	1982
Clinical and biochemical findings in argininemia. Advances in experimental medicine and biology, 1982, Volume: 153 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Child, Preschool; Consanguinity; Dietary Proteins; Erythrocytes; Female; Humans; Hyperargininemia; Infant; Urea	1982
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia. Advances in experimental medicine and biology, 1982, Volume: 153 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Female; Humans; Hyperargininemia; Ornithine; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Urea	1982
Guanidino compounds in hyperargininemia. Advances in experimental medicine and biology, 1982, Volume: 153 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chromatography, Liquid; Chromatography, Thin Layer; Female; Gas Chromatography-Mass Spectrometry; Glycine; Guanidines; Humans; Hyperargininemia; Succinates	1982
Neurological deterioration in patients with urea cycle disorders under valproate therapy--a cause for concern. European journal of pediatrics, 1995, Volume: 154, Issue:7 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Epilepsy; Female; Humans; Hyperargininemia; Neurologic Examination; Risk Factors; Valproic Acid	1995
Molecular basis of phenotypic variation in patients with argininemia. Human genetics, 1995, Volume: 96, Issue:3 Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Base Sequence; Child; Child, Preschool; Consanguinity; Ethnicity; Genes, Recessive; Genetic Heterogeneity; Genotype; Humans; Hyperargininemia; Immunoblotting; Infant; Infant, Newborn; Liver; Molecular Sequence Data; Phenotype; Point Mutation	1995
Arginase deficiency presenting with convulsions. Journal of inherited metabolic disease, 1994, Volume: 17, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Epilepsy, Tonic-Clonic; Humans; Hyperargininemia; Infant; Liver Function Tests; Male	1994
Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia. Human mutation, 1994, Volume: 4, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Arginase; Arginine; Conserved Sequence; Exons; Humans; Hyperargininemia; Liver; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Sequence Analysis, DNA	1994
Biochemical diagnosis and follow-up in a new Italian patient with hyperargininaemia. Journal of inherited metabolic disease, 1993, Volume: 16, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Follow-Up Studies; Humans; Hyperargininemia; Male	1993
Arginase deficiency in two brothers. Journal of inherited metabolic disease, 1993, Volume: 16, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Humans; Hyperargininemia; Infant; Male	1993
Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis. Journal of pediatric gastroenterology and nutrition, 1997, Volume: 24, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Biopsy; Diagnosis, Differential; Female; Humans; Hyperargininemia; Infant; Infant, Newborn; Jaundice, Neonatal; Liver; Liver Cirrhosis	1997
Adult-onset arginase deficiency. Journal of inherited metabolic disease, 1998, Volume: 21, Issue:6 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Female; Humans; Hyperargininemia	1998
Generation of a mouse model for arginase II deficiency by targeted disruption of the arginase II gene. Molecular and cellular biology, 2001, Volume: 21, Issue:3 Topics: Amino Acids; Animals; Arginase; Arginine; Base Sequence; DNA Primers; Gene Targeting; Humans; Hyperargininemia; Mice; Mice, Knockout; Models, Animal; Phenotype; Polyamines	2001
In vitro stimulation of oxidative stress in cerebral cortex of rats by the guanidino compounds accumulating in hyperargininemia. Brain research, 2001, Dec-27, Volume: 923, Issue:1-2 Topics: Age Factors; Animals; Antioxidants; Arginine; Catalase; Cerebral Cortex; Female; Glutathione Peroxidase; Homoarginine; Hyperargininemia; In Vitro Techniques; Luminescent Measurements; Oxidative Stress; Rats; Rats, Wistar; Superoxide Dismutase	2001
Unsuccessful trial of gene replacement in arginase deficiency. Zeitschrift fur Kinderheilkunde, 1975, Volume: 119, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Enzyme Induction; Humans; Hyperargininemia; Injections, Intravenous; Papillomaviridae; Rabbits; Tumor Virus Infections	1975
Argininemia treated from birth. The Journal of pediatrics, 1979, Volume: 95, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Humans; Hyperargininemia; Infant; Infant, Newborn; Infant, Newborn, Diseases	1979
Hyperargininemia with arginase deficiency. Pediatric research, 1979, Volume: 13, Issue:7 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginase; Arginine; Child; Female; Humans; Hyperargininemia; Male	1979
Arginase deficiency in multiple tissues in argininemia. Clinical genetics, 1978, Volume: 13, Issue:1 Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginase; Arginine; Blood Transfusion; Child; Erythrocytes; Female; Humans; Hyperargininemia; Lysine	1978
Excretion of guanidino-derivates in urine of hyperargininemic patients. Journal de genetique humaine, 1976, Volume: 24, Issue:1 Topics: Adult; Animals; Arginine; Child; Female; Goats; Guanidines; Haplorhini; Humans; Hyperargininemia; Male; Metabolism, Inborn Errors; Species Specificity	1976
Argininemia. The Journal of pediatrics, 1977, Volume: 90, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginase; Arginine; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Erythrocytes; Female; Genes, Recessive; Humans; Hyperargininemia; Infant; Male; Pedigree	1977
Hyperargininemia. The Journal of pediatrics, 1977, Volume: 90, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Chromatography; Dietary Proteins; Erythrocytes; Humans; Hyperargininemia; Male	1977
Human hyperargininemia: a mutation not expressed in skin fibroblasts? American journal of human genetics, 1977, Volume: 29, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Cells, Cultured; Erythrocytes; Female; Fibroblasts; Humans; Hyperargininemia; Isoenzymes; Male; Mutation; Skin	1977
Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities. Pediatric research, 1977, Volume: 11, Issue:9 Pt 1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Argininosuccinate Synthase; Citrulline; Humans; Hyperargininemia; Intellectual Disability; Ligases; Liver; Lysine; Male	1977
Intravenous loading with arginine-hydrochloride and ornithine-aspartate in siblings of two families, presenting a familial neurological syndrome associated with cystinuria. Biomedicine / [publiee pour l'A.A.I.C.I.G.], 1976, Volume: 24, Issue:3 Topics: Amino Acids; Arginine; Aspartic Acid; Child; Citrulline; Cystinuria; Glutamine; Humans; Hyperargininemia; Lysine; Ornithine	1976
Familial hyperargininaemia. Archives of disease in childhood, 1975, Volume: 50, Issue:1 Topics: Amino Acids; Ammonia; Arginine; Athetosis; Child, Preschool; Chromatography; Cystinuria; Dietary Proteins; Erythrocytes; Female; Guanidines; Humans; Hyperargininemia; Infant; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Muscle Spasticity; Ornithine; Umbilical Cord; Urea	1975
Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia. Clinical chemistry, 1976, Volume: 22, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Erythrocytes; Homozygote; Humans; Hyperargininemia; Urea	1976
[The dibasic amino acid metabolic disorders]. Nihon rinsho. Japanese journal of clinical medicine, 1992, Volume: 50, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Blood Transfusion; Citrulline; Humans; Hyperargininemia; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Renal Dialysis	1992
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. American journal of human genetics, 1992, Volume: 51, Issue:6 Topics: Amino Acid Sequence; Arginase; Arginine; Base Sequence; Child, Preschool; DNA, Single-Stranded; Heterozygote; Homozygote; Humans; Hyperargininemia; Infant; Japan; Liver; Male; Molecular Sequence Data; Mutation; Polymerase Chain Reaction	1992
Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapy. Pediatric research, 1990, Volume: 27, Issue:3 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Guanidines; Homoarginine; Humans; Hyperargininemia; Infant	1990
Absence of erythrocyte arginase protein in Japanese patients with hyperargininemia. European journal of pediatrics, 1991, Volume: 150, Issue:11 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Child; Child, Preschool; Electrophoresis, Polyacrylamide Gel; Erythrocytes; Female; Humans; Hyperargininemia; Immunoblotting; Japan; Male	1991
A new case of argininaemia without spastic diplegia in a Portuguese male. Journal of inherited metabolic disease, 1990, Volume: 13, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Humans; Hyperargininemia; Male; Muscle Spasticity; Portugal	1990
A new case of arginase deficiency in a Spanish male. Journal of inherited metabolic disease, 1986, Volume: 9, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Dietary Proteins; Humans; Hyperargininemia; Infant, Newborn; Male; Spain	1986
Human arginase isozymes. Isozymes, 1987, Volume: 13 Topics: Animals; Arginase; Arginine; Gene Expression Regulation; Humans; Hyperargininemia; Isoenzymes; Liver; Mitochondria; Ornithine; Species Specificity; Urea	1987
Enzyme replacement therapy in a patient with hyperargininemia. The Tohoku journal of experimental medicine, 1987, Volume: 151, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Blood Transfusion; Child, Preschool; Humans; Hyperargininemia; Male; Ornithine	1987
Liver fibrosis in arginase deficiency. Archives of pathology & laboratory medicine, 1987, Volume: 111, Issue:8 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Humans; Hyperargininemia; Infant; Liver Cirrhosis	1987
[Hyperargininemia. Clinical aspects and molecular basis of the defect]. Pediatria polska, 1987, Volume: 62, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Genes, Recessive; Humans; Hyperargininemia; Mutation	1987
Arginase deficiency in a 12-year-old boy with mild impairment of intellectual function. The Journal of pediatrics, 1986, Volume: 108, Issue:3 Topics: Ammonia; Arginine; Child; Dietary Proteins; Erythrocytes; Food Preferences; Humans; Hyperargininemia; Intellectual Disability; Male	1986
Guanidino compounds in plasma, urine and cerebrospinal fluid of hyperargininemic patients during therapy. Clinica chimica acta; international journal of clinical chemistry, 1985, Feb-28, Volume: 146, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anorexia Nervosa; Arginine; Benzoates; Benzoic Acid; Child; Female; Guanidines; Humans; Hyperargininemia; Male	1985
Human salivary arginase and its deficiency in argininaemia. Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie, 1985, Volume: 23, Issue:6 Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Antigen-Antibody Reactions; Arginase; Arginine; Child, Preschool; Chromatography, DEAE-Cellulose; Chromatography, Ion Exchange; Drug Stability; Female; Humans; Hyperargininemia; Immune Sera; Infant; Male; Middle Aged; Saliva	1985