arginine and Arginino Succinase Deficiency

arginine has been researched along with Arginino Succinase Deficiency in 54 studies

Research

Studies (54)

Timeframe	Studies, this research(%)	All Research%
pre-1990	32 (59.26)	18.7374
1990's	2 (3.70)	18.2507
2000's	6 (11.11)	29.6817
2010's	11 (20.37)	24.3611
2020's	3 (5.56)	2.80

Authors

Authors	Studies
Crowther, RR; Greis, KD; Haffey, WD; Lange, SM; McKell, MC; Qualls, JE; Robillard, MC; Schmidt, SM; Setchell, KDR; Wyder, MA; Zhao, J	1
Kawano, H; Mitsubuchi, H; Morikawa, K; Nagano, H; Nagayoshi, Y; Nakayama, M; Nishi, M; Nishihara, T; Sakaino, N; Tsujita, K	1
Baruteau, J; Bernhardt, I; Boyd, S; Chakrapani, A; Chan, A; Cleary, M; Crowther, L; Dionisi-Vici, C; Elkhateeb, N; Gissen, P; Grunewald, S; Hartley, T; Lachmann, R; Mills, P; Morris, AAM; Mundy, H; Murphy, E; Olivieri, G; Ridout, D; Santra, S; Sharma, R; Siri, B; Stepien, KM; Sudakhar, S; Uudelepp, ML; Yeo, M	1
Burgard, P; Cederbaum, S; Cuthbertson, D; Holbert, A; McCarter, R; Waisbren, SE	1
Nagesh, NK; Raturi, S; Venkatagiri, P; Venkatesh, IH	1
Clarke, JT; Lafrance, G; Perreault, E; Reid, L	1
Engel, K; Häberle, J; Herle, M; Mercimek-Mahmutoglu, S; Moeslinger, D; Muehl, A; Scheibenreiter, S; Stöckler-Ipsiroglu, S; Strobl, MW	1
Erez, A; Lee, B; Nagamani, SC	3
Barboni, C; Contri, M; Corbetta, C; Furlan, F; Gamba, A; Grioni, D; Lastrico, A; Marzocchi, GM; Parini, R; Vizziello, P	1
Aschner, JL; Bertin, TK; Black, JO; Bryan, NS; Campeau, PM; Chen, Y; Erez, A; Garg, HK; Harrison, DG; Lee, B; Li, L; Marini, JC; Mian, A; Mitch, WE; Nagamani, SC; O'Brien, WE; Premkumar, MH; Reddy, AK; Shchelochkov, OA; Summar, M; Tang, Y; Zeng, H	1
Brunetti-Pierri, N; Bryan, NS; Campeau, PM; Caudle, S; Chen, Y; Erez, A; Feig, DI; Guse, K; Harrison, D; Lee, B; Li, L; Marini, JC; Nagamani, SC; Palmer, D; Premkumar, MH; Reddy, AK; Salviati, L; Shchelochkov, OA; Slesnick, TC; Sun, Q; Tang, Y	1
Adaikan, PG; Meng, J; Srilatha, B	1
Carter, S; Erez, A; Kleppe, S; Lanpher, BC; Lee, B; Marini, JC; Mullins, MA; Nagamani, SC; O'Brian Smith, E; Shchelochkov, OA; Sun, Q	1
Craigen, WJ; Davis, EC; Pan, Y; Reid Sutton, V	1
WESTALL, RG	1
DENT, CE	1
ARMSTRONG, MD; STEMMERMANN, MG; YATES, KN	1
TOMLINSON, S; WESTALL, RG	1
GROSFELD, JC; MIGHORST, JA; MOOLHUYSEN, TM	1
LEVIN, B; MACKAY, HM; OBERHOLZER, VG	1
Brunetti-Pierri, N; Carter, S; Garlick, P; Jahoor, F; Kleppe, S; Lee, B; Marini, J; O'Brien, W; Scaglia, F	1
Jakobs, C; Reijngoud, DJ; Sijens, PE; Soorani-Lunsing, RJ; van Spronsen, FJ; Verhoeven, NM	1
Batshaw, ML	2
Brusilow, SW	1
Baumgarten, IM; Davidson, JS; Harley, EH	1
Batshaw, ML; Blom, W; Brubakk, AM; Brusilow, S; Burton, BK; Cann, HM; Kerr, D; Mamunes, P; Matalon, R; Myerberg, D; Schafer, IA; Waber, L	1
Guthrie, R; Naylor, EW; Sumlin, AB; Talbot, HW	1
Briand, P; Cathelineau, L; Kamoun, P; Pham Dinh, D	2
Grisar, T	1
Kitagawa, T; Owada, M; Sakiyama, T; Suzuki, T	1
Batshaw, ML; Brusilow, S; Painter, MJ; Schafer, IA; Sproul, GT; Thomas, GH	1
Fakler, CR; Kaftan, HA; Nelin, LD	1
Harms, E; Homberger, A; Koch, HG; Linnebank, M; Marquardt, T; Rapp, B; Winter, C	1
Bauer, MF; Bieger, I; Gempel, K; Gerbitz, KD; Hofmann, S; Pontz, BF; Stadler, S	1
Batshaw, ML; Brusilow, SW	1
Batshaw, M; Brusilow, SW; Valle, DL	1
Glick, NR; Schafer, IA; Snodgrass, PJ	1
Klebe, RJ; Naylor, SL; Shows, TB	1
Böhles, H; Fekl, W; Harms, D; Heid, H; Sitzmann, FC	1
Böhles, H; Fekl, W; Harms, D; Heid, H; Schmid, D	1
Kawamura, M	1
Farriaux, JP; Fontaine, G; Pieraert, C	1
Cartigny, B; Dhondt, JL; Farriaux, JP	1
Gale, DS; Iafolla, AK; Roe, CR	1
Betremieux, P; David, V; Journel, H; Le Marec, B; Odent, S; Roussey, M	1
Carter, RJ; Parsons, HG; Pinto, A; Scott, RB; Snyder, FF	1
Gibbons, GF; Howard, DH	1
Maltby, DA; Millington, DS; Roe, CR	1
Itakura, Y; Kobayashi, K; Mino, M; Nakano, K; Okamoto, R; Oyanagi, K; Saheki, T; Sase, M	1
Donn, SM; Thoene, JG	1

Reviews

4 review(s) available for arginine and Arginino Succinase Deficiency

Article	Year
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. American journal of medical genetics. Part C, Seminars in medical genetics, 2011, Feb-15, Volume: 157C, Issue:1 Topics: Arginase; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Carboxy-Lyases; Humans; Hyperammonemia; Infant, Newborn; Liver Diseases; Neonatal Screening; Nitric Oxide Synthase; Ornithine; Urea Cycle Disorders, Inborn	2011
Argininosuccinate lyase deficiency. Genetics in medicine : official journal of the American College of Medical Genetics, 2012, Volume: 14, Issue:5 Topics: Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Citrulline; Cognition Disorders; Diet, Protein-Restricted; Fumarates; Genetic Testing; Glucose; Humans; Hyperammonemia; Hypertension; Infant; Infant, Newborn; Lipids; Liver Diseases; Liver Transplantation; Neonatal Screening; Phenylbutyrates; Sodium Benzoate	2012
Optimizing therapy for argininosuccinic aciduria. Molecular genetics and metabolism, 2012, Volume: 107, Issue:1-2 Topics: Arginine; Argininosuccinate Lyase; Argininosuccinic Aciduria; Free Radicals; Genetic Association Studies; Humans; Phenotype	2012
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

Trials

1 trial(s) available for arginine and Arginino Succinase Deficiency

Article	Year
A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria. Molecular genetics and metabolism, 2012, Volume: 107, Issue:3 Topics: Adolescent; Alanine Transaminase; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Aspartate Aminotransferases; Child; Child, Preschool; Cross-Over Studies; Double-Blind Method; Drug Administration Schedule; Drug Therapy, Combination; Female; Humans; Liver Function Tests; Male; Phenylbutyrates; Placebos; Young Adult	2012

Article

Year

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria.

Molecular genetics and metabolism, 2012, Volume: 107, Issue:3

Topics: Adolescent; Alanine Transaminase; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Aspartate Aminotransferases; Child; Child, Preschool; Cross-Over Studies; Double-Blind Method; Drug Administration Schedule; Drug Therapy, Combination; Female; Humans; Liver Function Tests; Male; Phenylbutyrates; Placebos; Young Adult

2012

Other Studies

49 other study(ies) available for arginine and Arginino Succinase Deficiency

Article	Year
Cutting Edge: l-Arginine Transfer from Antigen-Presenting Cells Sustains CD4 Journal of immunology (Baltimore, Md. : 1950), 2022, 02-15, Volume: 208, Issue:4 Topics: Animals; Antigen-Presenting Cells; Arginine; Argininosuccinic Aciduria; Biological Transport; Biomarkers; CD4-Positive T-Lymphocytes; Cell Proliferation; Cell Survival; Flow Cytometry; Immunophenotyping; Lymphocyte Activation; Mice; Mice, Transgenic	2022
Coronary Vasospasm in a Patient With Argininosuccinic Aciduria. The American journal of cardiology, 2023, 04-01, Volume: 192 Topics: Adult; Angina Pectoris; Arginine; Argininosuccinate Lyase; Argininosuccinic Aciduria; Coronary Vasospasm; Humans; Male	2023
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study. Epilepsia, 2023, Volume: 64, Issue:6 Topics: Arginine; Argininosuccinic Aciduria; Epilepsy; Humans; Nitric Oxide; Retrospective Studies; Seizures; Urea	2023
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
Use of continuous hemodiafiltration for the treatment of a neonate with hyperammonemia secondary to argininosuccinate lyase (ASAL) deficiency. Indian journal of pediatrics, 2013, Volume: 80, Issue:9 Topics: Ammonia; Arginine; Argininosuccinate Lyase; Argininosuccinic Aciduria; Breast Feeding; Combined Modality Therapy; Diet, Protein-Restricted; DNA Mutational Analysis; Female; Hemofiltration; Humans; Hyperammonemia; Infant Formula; Infant, Newborn; Lactic Acid; Sodium Benzoate	2013
Experience with the treatment of argininosuccinic aciduria during pregnancy. Journal of inherited metabolic disease, 2009, Volume: 32 Suppl 1 Topics: Adult; Arginine; Argininosuccinate Lyase; Argininosuccinic Aciduria; Diet, Protein-Restricted; Female; Humans; Infant, Newborn; Male; Mutation; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Prenatal Care	2009
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. Molecular genetics and metabolism, 2010, Volume: 100, Issue:1 Topics: Adolescent; Adult; Arginine; Argininosuccinic Aciduria; Austria; Child; Child, Preschool; Citrulline; Electroencephalography; Female; Follow-Up Studies; Humans; Infant, Newborn; Male; Neonatal Screening; Treatment Outcome	2010
Epilepsy and argininosuccinic aciduria. Neuropediatrics, 2011, Volume: 42, Issue:3 Topics: Adolescent; Arginine; Argininosuccinic Aciduria; Child; Child, Preschool; Epilepsy; Female; Follow-Up Studies; Humans; Infant; Male; Retrospective Studies; Young Adult	2011
Requirement of argininosuccinate lyase for systemic nitric oxide production. Nature medicine, 2011, Nov-13, Volume: 17, Issue:12 Topics: Animals; Arginine; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Aciduria; Cell Line; Disease Models, Animal; Endothelial Cells; Female; Fibroblasts; Gene Knockdown Techniques; Humans; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Nitric Oxide; Nitric Oxide Synthase; Nitrites; RNA, Small Interfering; Sequence Analysis, DNA; Swine	2011
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. American journal of human genetics, 2012, May-04, Volume: 90, Issue:5 Topics: Adolescent; Animals; Arginine; Argininosuccinate Lyase; Argininosuccinic Aciduria; Child, Preschool; Chromatography, High Pressure Liquid; Disease Models, Animal; Genetic Therapy; Humans; Hypertension; Liver; Male; Mice; Nitric Oxide	2012
Hydrogen sulfide: in the aftermath of argininosuccinate lyase and nitric oxide deficiency. Genetics in medicine : official journal of the American College of Medical Genetics, 2012, Volume: 14, Issue:6 Topics: Arginine; Argininosuccinate Lyase; Argininosuccinic Aciduria; Humans; Hydrogen Sulfide; Nitric Oxide; Nitric Oxide Donors; Signal Transduction	2012
A mouse model of argininosuccinic aciduria: biochemical characterization. Molecular genetics and metabolism, 2003, Volume: 78, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Cyclic GMP; Disease Models, Animal; Female; Genotype; Humans; Hyperammonemia; Male; Mice; Mice, Inbred Strains; Mice, Knockout; Nitric Oxide; Ornithine Carbamoyltransferase; Urea	2003
Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic studies. The Biochemical journal, 1960, Volume: 77 Topics: Arginine; Argininosuccinic Aciduria; Humans; Mental Disorders; Metabolic Diseases; Succinates	1960
Argininosuccinic aciduria and maple syrup urine disease. Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften, 1962, Volume: 17 Topics: Arginine; Argininosuccinic Aciduria; Body Fluids; Humans; Maple Syrup Urine Disease; Metabolic Diseases	1962
AN OCCURRENCE OF ARGININOSUCCINIC ACIDURIA. Pediatrics, 1964, Volume: 33 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Aciduria; Child; Humans; Infant; Infant, Newborn; Kidney; Renal Aminoacidurias; Succinates; Urine; Urologic Diseases	1964
ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS. Clinical science, 1964, Volume: 26 Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Argininosuccinate Lyase; Argininosuccinic Aciduria; Blood Cells; Blood Chemical Analysis; Erythrocytes; Genetics, Medical; Humans; Leukocytes; Lyases; Renal Aminoacidurias	1964
ARGININOSUCCINIC ACIDURIA IN MONILETHRIX. Lancet (London, England), 1964, Oct-10, Volume: 2, Issue:7363 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Argininosuccinic Aciduria; Chromatography; Congenital Abnormalities; Genetics, Medical; Hair; Humans; Intellectual Disability; Monilethrix; Succinates; Urine	1964
Argininosuccinic aciduria, an inborn error of amino acid metabolism. Archives of disease in childhood, 1961, Volume: 36 Topics: Arginine; Argininosuccinic Aciduria; Child; Humans; Infant; Metabolic Diseases; Succinates	1961
High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment? Molecular genetics and metabolism, 2006, Volume: 89, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Brain; Child; Child, Preschool; Creatine; Female; Glycine; Humans; Infant, Newborn; Male; Pregnancy	2006
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
Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis. The Journal of clinical investigation, 1984, Volume: 74, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Blood Urea Nitrogen; Carbamoyl-Phosphate Synthase (Ammonia); Child, Preschool; Female; Glutamine; Humans; Infant; Infant, Newborn; Male; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Urea	1984
Metabolic cooperation between argininosuccinate synthetase and argininosuccinate lyase deficient human fibroblasts. Experimental cell research, 1984, Volume: 150, Issue:2 Topics: Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Cell Communication; Cell Count; Cell Line; Citrulline; Culture Media; Fibroblasts; Humans; Intercellular Junctions; Kinetics; Leucine; Lymphocytes; Mutation; Protein Biosynthesis	1984
Sodium benzoate and arginine: alternative pathway therapy in inborn errors of urea synthesis. Progress in clinical and biological research, 1983, Volume: 127 Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Aciduria; Benzoates; Carbamoyl-Phosphate Synthase (Ammonia); Child; Female; Humans; Male; Middle Aged; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Phenylacetates; Urea	1983
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. The New England journal of medicine, 1982, Jun-10, Volume: 306, Issue:23 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Benzoates; Benzoic Acid; Carbamoyl-Phosphate Synthase (Ammonia); Child, Preschool; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Infusions, Parenteral; Male; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Urea	1982
A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders. Pediatrics, 1982, Volume: 70, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Aciduria; Blood Specimen Collection; Citric Acid Cycle; Citrulline; Humans; Infant, Newborn; Lyases; Mass Screening; Ornithine; Urea	1982
Complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. Advances in experimental medicine and biology, 1982, Volume: 153 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Cells, Cultured; Citrulline; Fibroblasts; Genetic Complementation Test; Humans; Ligases; Lyases	1982
Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study. Advances in experimental medicine and biology, 1982, Volume: 153 Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Electroencephalography; Female; Humans; Intellectual Disability; Lyases; Middle Aged; Pedigree; Seizures; Uric Acid	1982
First case of argininosuccinic aciduria in Japan: clinical observations and treatment. Advances in experimental medicine and biology, 1982, Volume: 153 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Erythrocytes; Follow-Up Studies; Humans; Infant; Japan; Lyases; Male	1982
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. Human genetics, 1981, Volume: 57, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Cell Line; Citrulline; Female; Fibroblasts; Genetic Complementation Test; Humans; Infant, Newborn; Infant, Newborn, Diseases; Ligases; Lyases; Male; Polyethylene Glycols	1981
Therapy of urea cycle enzymopathies: three case studies. The Johns Hopkins medical journal, 1981, Volume: 148, Issue:1 Topics: Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Lyases; Male; Ornithine Carbamoyltransferase Deficiency Disease; Urea	1981
Two cases suggesting a role for the L-arginine nitric oxide pathway in neonatal blood pressure regulation. Acta paediatrica (Oslo, Norway : 1992), 1995, Volume: 84, Issue:4 Topics: Arginine; Argininosuccinic Aciduria; Blood Pressure; Female; Humans; Hypertension; Infant, Newborn; Male; Nitric Oxide	1995
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene. Journal of inherited metabolic disease, 2000, Volume: 23, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Hepatomegaly; Humans; Hyperammonemia; Point Mutation; Psychomotor Disorders; RNA Splicing; Sodium Benzoate	2000
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry. Journal of inherited metabolic disease, 2001, Volume: 24, Issue:3 Topics: Amino Acid Sequence; Amino Acids; Ammonia; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Base Sequence; Citrulline; Coma; Frameshift Mutation; Humans; Hyperammonemia; Infant, Newborn; Mass Spectrometry; Molecular Sequence Data; Neonatal Screening; Ornithine	2001
Arginine therapy of argininosuccinase deficiency. Lancet (London, England), 1979, Jan-20, Volume: 1, Issue:8108 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Erythrocytes; Female; Glutamine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Lyases; Ornithine; Quaternary Ammonium Compounds	1979
New pathways of nitrogen excretion in inborn errors of urea synthesis. Lancet (London, England), 1979, Sep-01, Volume: 2, Issue:8140 Topics: Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Citrulline; Dietary Proteins; Hippurates; Humans; Infant; Metabolism, Inborn Errors; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Phenylacetates; Urea	1979
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. American journal of human genetics, 1976, Volume: 28, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Brain; Genes; Genes, Regulator; Humans; Infant, Newborn; Infant, Newborn, Diseases; Kidney; Liver; Lyases; Ornithine Carbamoyltransferase; Pedigree; Phosphotransferases; Urea	1976
Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography. Proceedings of the National Academy of Sciences of the United States of America, 1978, Volume: 75, Issue:12 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Chromosome Mapping; Chromosomes, Human, 6-12 and X; Electrophoresis; Genes; Humans; Hybrid Cells; Lyases	1978
Protein load in argininosuccinic aciduria: thoughts on its biochemical implications. Zeitschrift fur Ernahrungswissenschaft, 1978, Volume: 17, Issue:2 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Dietary Proteins; Female; Humans; Milk Proteins; Orotic Acid; Urea	1978
Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids. European journal of pediatrics, 1978, Jul-19, Volume: 128, Issue:4 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Essential; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Blood Proteins; Female; Humans; Seizures; Serum Albumin	1978
[Citrullinemia and argininosuccinic aciduria]. Nihon rinsho. Japanese journal of clinical medicine, 1978, Volume: Suppl Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Citrulline; Humans; Infant; Infant, Newborn; Male	1978
Letter: Survival of infant with argininosuccinic aciduria to 3 months of age. The Journal of pediatrics, 1975, Volume: 86, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Aciduria; Female; Humans; Infant; Infant, Newborn; Succinates	1975
[Argininosuccinic acid, technics of biochemical study (apropos of a case of argininosuccinyluria)]. Lille medical : journal de la Faculte de medecine et de pharmacie de l'Universite de Lille, 1975, Volume: 20, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Aciduria; Humans; Lyases; Succinates	1975
Citrate therapy in argininosuccinate lyase deficiency. The Journal of pediatrics, 1990, Volume: 117, Issue:1 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Aspartic Acid; Child; Citrates; Citric Acid; Citrulline; Female; Humans; Infant; Lyases	1990
[Argininosuccinic aciduria. A new case revealed by psychiatric disorders]. Journal de genetique humaine, 1989, Volume: 37, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Chromosomes, Human, Pair 7; Humans; Male; Phenotype	1989
Argininosuccinic aciduria: long-term treatment with arginine. Journal of inherited metabolic disease, 1987, Volume: 10, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Erythrocytes; Humans; Male; Mitochondria, Liver	1987
Arginine auxotrophs of Candida albicans deficient in argininosuccinate lyase. Journal of general microbiology, 1986, Volume: 132, Issue:2 Topics: Arginine; Argininosuccinic Aciduria; Candida albicans; Histidine; Lyases; Mutation; Ultraviolet Rays	1986
Rapid detection of argininosuccinic aciduria and citrullinuria by fast atom bombardment and tandem mass spectrometry. Clinica chimica acta; international journal of clinical chemistry, 1986, Mar-16, Volume: 155, Issue:2 Topics: Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Child; Citrulline; Humans; Ligases; Lyases; Mass Spectrometry	1986
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria. Clinica chimica acta; international journal of clinical chemistry, 1986, Aug-30, Volume: 159, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Brain; Erythrocytes; Humans; Immunochemistry; Infant, Newborn; Kidney; Liver; Lyases; Male; Urea	1986
Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy. Journal of inherited metabolic disease, 1985, Volume: 8, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Female; Humans; Infant, Newborn; Male; Pregnancy; Prenatal Diagnosis	1985