arginine and Inborn Errors of Metabolism

arginine has been researched along with Inborn Errors of Metabolism in 59 studies

Research

Studies (59)

Timeframe	Studies, this research(%)	All Research%
pre-1990	34 (57.63)	18.7374
1990's	4 (6.78)	18.2507
2000's	15 (25.42)	29.6817
2010's	5 (8.47)	24.3611
2020's	1 (1.69)	2.80

Authors

Authors	Studies
Ballhausen, D; Barroso, M; Braissant, O; Caterino, M; Costanzo, M; Cudalbu, C; Cudré-Cung, HP; Feichtinger, RG; Gersting, SW; Gonzalez Melo, M; Häberle, J; Mayr, JA; Poms, M; Remacle, N; Roux, C; Rüfenacht, V; Ruoppolo, M	1
Achten, J; Berry, GT; Bierau, J; Coelho, AI; Demirbas, D; Derks, B; Haskovic, M; Huang, X; Mackinnon, S; Nyakayiru, J; Peake, RWA; Qi, W; Rubio-Gozalbo, ME; Trommelen, J; van der Ploeg, L; van Loon, LJC; Yue, WW; Zha, L	1
Nguyen, T; Pitt, JJ; Tzanakos, N	1
Banerjee, R; Gherasim, C; Hudolin, S; Li, Z; Ruetz, M	1
Aimaretti, G; Beccuti, G; Bellone, J; Corneli, G; Gasco, V; Ghigo, E; Grottoli, S; Prodam, F; Rovere, S	1
Arias, A; Artuch, R; Campistol, J; Fons, C; López-Sala, A; Mas, A; Pineda, M; Póo, P; Ribes, A; Salomons, GS; Sempere, A; Vilaseca, MA	1
Hogan, KJ; Vladutiu, GD	1
Dunbar, M; Friesen, A; Garret, S; Hartnett, C; Huh, L; Jakobs, C; Mercimek-Mahmutoglu, S; Pouwels, PJ; Salomons, GS; Sinclair, G; Stockler, S; Wellington, S	1
Battaglia, FM; Battini, R; Casarano, M; Chilosi, A; Cioni, G; Comparini, A; Leuzzi, V; Mancardi, MM; Schiaffino, C; Tosetti, M	1
Aimaretti, G; Bozzola, E; Draghi, M; Paganini, C; Radetti, G; Rondini, G; Scarcella, D; Tatò, L; Tinelli, C	1
Andersson, L; Gustafsson, V; Lundén, A; Marklund, S	1
Bachmann, C	2
Hoshikawa, S; Ito, S; Kaise, N; Mori, K; Nakagawa, Y; Yoshida, K	1
Brunetti-Pierri, N; Carter, S; Garlick, P; Jahoor, F; Kleppe, S; Lee, B; Marini, J; O'Brien, W; Scaglia, F	1
Asselta, R; Braidotti, P; Coggi, G; Duga, S; Maggioni, M; Malcovati, M; Pellegrini, C; Santagostino, E; Tenchini, ML	1
De Meirleir, LJ; De Praeter, CM; Devreese, B; Engelke, UF; Gerlo, EA; Giardina, TG; Herga, S; Leroy, JG; Lissens, W; Meersschaut, VA; Perrier, JP; Seneca, SH; Smet, JE; Van Coster, RN; Wevers, RA	1
Andria, G; Carbone, MT; Correra, A; Della Casa, R; Dionisi-Vici, C; Fecarotta, S; Parenti, G; Riva, S; Santorelli, FM; Torre, G; Vajro, P; Zuppaldi, A	1
Elpeleg, O; Gutman, A; Korman, SH; Saada, A; Shaag, A; Shalev, SA; Spiegel, R	1
Biller, BM	1
Toogood, A	1
Smith, I	1
Bachmann, C; Colombo, JP	1
Brand, MP; Clark, JB; Heales, SJ; Land, JM	1
Frahm, J; Hanefeld, F; Hänicke, W; Helms, G; Holzbach, U; Marquardt, I; Requart, M; Stöckler, S	1
Bachert, P; De Deyn, PP; Marescau, B; Mayatepek, E; Rating, D; Schulze, A	1
Aimaretti, G; Baffoni, C; Bellone, J; Bellone, S; Bona, G; Corneli, G; de Sanctis, C; Ghigo, E; Rovere, S	1
Batshaw, M; Brusilow, SW; Valle, DL	1
Clara, R; Lavinha, F; Lowenthal, A; Mortelmans, J; Terheggen, HG; Wiechert, P	1
Colombo, JP; Lavinha, F; Lowenthal, A; Terheggen, HG	1
Antonozzi, I; Cederbaum, SD; Cerone, R; Chamoles, N; De Broe, ME; De Deyn, PP; Gatti, R; Kang, SS; Marescau, B; Qureshi, IA	1
Portolés, M; Rubio, V	1
Chalmers, RA; Duffy, S; Harkness, RA; Jones, M; Purkiss, P	1
Hayakawa, C; Mizutani, N; Mori, A; Ohya, Y; Watanabe, K; Watanabe, Y	1
Constantopoulos, A; Najjar, VA	1
Guthrie, R; Murphey, WH; Patchen, L	1
Potter, JL; Silvidi, AA; Timmons, GD; West, R	1
Davies, DR; Merry, AH	1
Coffey, VP; Martin, MC; Moore, PT	1
Hsia, YE	1
Goodman, SI; Hill, HZ	1
Blunck, W; Menking, M; Rybak, C; Stahnke, N	1
Szám, I	1
Bolton, CE; Emery, AE	1
Andre, M; Gauthier, J; Levin, B; Longin, B; Richard, P; Salle, B	1
Pollitt, RJ	1
Iivanainen, M; Palo, J; Savolainen, H	1
Coryell, ME; Hahn, DA; Hall, WK; Hartlage, PL	1
Burgess, EA; Butler, LJ; Levin, B; Oberholzer, VG; Palmer, T	1
Colombo, JP	1
Shih, VE	1
Carton, D; De Schrijver, F; Hooft, C; Kint, J; Van Durme, J	1
Helger, R; Kraffczyk, F; Lang, H	1
Fineberg, SE; McKusick, VA; Merimee, TJ; Siperstein, MD	1
Berger, R; Broyer, M	1
Greer, M; Sprinkle, T; Williams, CM	1
Gerbie, AB; Nadler, HL	1
Burgess, EA; Dobbs, RH; Levin, B; Palmer, T	1
Beer, S; Wallis, K	1

Reviews

6 review(s) available for arginine and Inborn Errors of Metabolism

Article	Year
Retesting the childhood-onset GH-deficient patient. European journal of endocrinology, 2008, Volume: 159 Suppl 1 Topics: Adolescent; Age of Onset; Arginine; Child; Diagnostic Techniques, Endocrine; Growth Hormone; Growth Hormone-Releasing Hormone; Humans; Hypoglycemic Agents; Hypopituitarism; Insulin; Insulin-Like Growth Factor I; Metabolism, Inborn Errors; Patient Selection; Predictive Value of Tests; ROC Curve; Severity of Illness Index; Young Adult	2008
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
Concepts in the diagnosis of adult growth hormone deficiency. Hormone research, 2007, Volume: 68 Suppl 5 Topics: Adult; Arginine; Diagnostic Techniques, Endocrine; Growth Hormone-Releasing Hormone; Human Growth Hormone; Humans; Hypoglycemic Agents; Insulin; Insulin-Like Growth Factor I; Metabolism, Inborn Errors	2007
Inherited hyperammonemic syndromes. Gastroenterology, 1974, Volume: 67, Issue:2 Topics: Acidosis; Amino Acids; Ammonia; Animals; Arginine; Brain; Brain Diseases; Chemical and Drug Induced Liver Injury; Citrulline; Dementia; Homeostasis; Humans; Infant, Newborn; Liver; Lysine; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Phosphotransferases; Succinates; Syndrome; Urea; Urease	1974
[Hyperammoniemia and its treatment]. Orvosi hetilap, 1973, Oct-28, Volume: 114, Issue:43 Topics: Ammonia; Arginine; Aspartic Acid; Humans; Ketoglutaric Acids; Liver; Malates; Metabolism, Inborn Errors; Ornithine; Orotic Acid	1973
[Hereditary enzyme defects of the urea cycle]. Ergebnisse der inneren Medizin und Kinderheilkunde, 1971, Volume: 31 Topics: Adult; Ammonia; Arginase; Arginine; Child; Child, Preschool; Citrulline; Enzymes; Female; Humans; Infant; Infant, Newborn; Ligases; Lyases; Male; Metabolism, Inborn Errors; Ornithine; Ornithine Carbamoyltransferase; Phosphotransferases; Succinates; Transaminases; Urea	1971

Other Studies

53 other study(ies) available for arginine and Inborn Errors of Metabolism

Article	Year
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery. Molecular genetics and metabolism, 2021, Volume: 133, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Brain; Brain Diseases, Metabolic; Creatine; Disease Models, Animal; Gene Knock-In Techniques; Gliosis; Glutaryl-CoA Dehydrogenase; Humans; Lysine; Metabolism, Inborn Errors; Rats	2021
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Orphanet journal of rare diseases, 2018, 11-26, Volume: 13, Issue:1 Topics: Arginine; Aspartic Acid; Cells, Cultured; Fibroblasts; Galactose; Galactosemias; Humans; Metabolism, Inborn Errors; Mutation; Retrospective Studies	2018
Newborn screening for guanidinoacetate methyl transferase deficiency. Molecular genetics and metabolism, 2014, Volume: 111, Issue:3 Topics: Arginine; Creatine; Diet; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Intellectual Disability; Language Development Disorders; Male; Metabolism, Inborn Errors; Movement Disorders; Ornithine; Sodium Benzoate	2014
Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling. The Journal of biological chemistry, 2015, May-01, Volume: 290, Issue:18 Topics: Alkylation; Arginine; Biocatalysis; Glutathione; Humans; Metabolism, Inborn Errors; Models, Molecular; Molecular Chaperones; Mutation, Missense; Nitriles; Oxidation-Reduction; Protein Stability; Protein Structure, Tertiary; Proto-Oncogene Proteins c-cbl; Reactive Oxygen Species; Vitamin B 12	2015
Arginine supplementation in four patients with X-linked creatine transporter defect. Journal of inherited metabolic disease, 2008, Volume: 31, Issue:6 Topics: Administration, Oral; Adolescent; Age of Onset; Arginine; Child; Chromosomes, Human, X; Creatine; Dietary Supplements; Epilepsy; Genes, X-Linked; Humans; Magnetic Resonance Spectroscopy; Male; Membrane Transport Proteins; Metabolism, Inborn Errors	2008
Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. Anesthesia and analgesia, 2009, Volume: 109, Issue:4 Topics: Amino Acid Substitution; Anesthetics, Inhalation; Arginine; Carnitine O-Palmitoyltransferase; Child, Preschool; Cysteine; Female; Genetic Predisposition to Disease; Halothane; Heterozygote; Humans; Malignant Hyperthermia; Metabolism, Inborn Errors; Mutation; Neuromuscular Depolarizing Agents; Risk Factors; Succinylcholine; Syndrome	2009
Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency. Molecular genetics and metabolism, 2012, Volume: 105, Issue:1 Topics: Arginine; Child, Preschool; Diet; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Treatment Outcome	2012
Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency. Orphanet journal of rare diseases, 2012, Jun-19, Volume: 7 Topics: Arginine; Creatine; Humans; Male; Membrane Transport Proteins; Metabolism, Inborn Errors; Mutation; Neuropsychological Tests	2012
Serum leptin levels are not influenced by arginine and insulin infusion and by acute changes of GH. Journal of endocrinological investigation, 2002, Volume: 25, Issue:9 Topics: Arginine; Body Mass Index; Child; Control Groups; Female; Human Growth Hormone; Humans; Infusions, Intravenous; Insulin; Leptin; Male; Metabolism, Inborn Errors; Time Factors	2002
A nonsense mutation in the FMO3 gene underlies fishy off-flavor in cow's milk. Genome research, 2002, Volume: 12, Issue:12 Topics: Amino Acid Substitution; Animals; Arginine; Cattle; Codon, Nonsense; Exons; Female; Genetic Carrier Screening; Homozygote; Humans; Male; Metabolism, Inborn Errors; Methylamines; Milk; Molecular Sequence Data; Oxygenases; Reverse Transcriptase Polymerase Chain Reaction; Sequence Analysis, DNA; Taste	2002
Long-term outcome of patients with urea cycle disorders and the question of neonatal screening. European journal of pediatrics, 2003, Volume: 162 Suppl 1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Argininosuccinic Acid; Child; Citrulline; Diet; False Positive Reactions; Humans; Hyperammonemia; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Neonatal Screening; Retrospective Studies; Treatment Outcome; Urea	2003
Artifactually elevated serum-free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia. Thyroid : official journal of the American Thyroid Association, 2004, Volume: 14, Issue:2 Topics: Adult; Amino Acid Substitution; Arginine; Artifacts; Cytosine; Dialysis; Female; Genes, Dominant; Guanine; Hemofiltration; Humans; Hyperthyroxinemia; Metabolism, Inborn Errors; Mutation; Pregnancy; Pregnancy Complications; Proline; Radioimmunoassay; Serum Albumin; Thyroxine; Thyroxine-Binding Proteins	2004
Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen vs. the Journal of thrombosis and haemostasis : JTH, 2005, Volume: 3, Issue:4 Topics: Adolescent; Animals; Arginine; COS Cells; DNA, Complementary; Electrophoresis, Polyacrylamide Gel; Endoplasmic Reticulum; Fibrinogen; Genotype; Glycoside Hydrolases; Humans; Immunohistochemistry; Immunoprecipitation; Leucine; Liver; Liver Diseases; Male; Metabolism, Inborn Errors; Microscopy, Electron; Mutation; Mutation, Missense; Phenotype; Reverse Transcriptase Polymerase Chain Reaction; RNA; RNA, Messenger; Transfection	2005
Aminoacylase I deficiency: a novel inborn error of metabolism. Biochemical and biophysical research communications, 2005, Dec-23, Volume: 338, Issue:3 Topics: Amidohydrolases; Animals; Arginine; Cells, Cultured; Genome, Human; Humans; Infant, Newborn; Lymphocytes; Male; Metabolism, Inborn Errors; Mutation; Peptide Hydrolases; RNA, Messenger	2005
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1 Topics: Alanine Transaminase; Amino Acid Transport Systems, Basic; Arginine; Aspartate Aminotransferases; Child, Preschool; Citrulline; Diet, Protein-Restricted; Hepatitis; Humans; Hyperammonemia; Liver; Male; Metabolism, Inborn Errors; Mitochondrial Membrane Transport Proteins; Ornithine; Proteins; Syndrome	2006
Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation. Journal of inherited metabolic disease, 2007, Volume: 30, Issue:2 Topics: Arginine; Carnitine O-Palmitoyltransferase; Cysteine; Exons; Fatal Outcome; Fatty Acids; Female; Homozygote; Humans; Infant; Metabolism, Inborn Errors; Mitochondria; Mutation, Missense; Oxidation-Reduction; Severity of Illness Index	2007
Growth hormone tests: are they all the same? Hormone research, 2007, Volume: 68 Suppl 5 Topics: Adult; Arginine; Databases, Factual; Diagnostic Techniques, Endocrine; Drug Combinations; Glucagon; Growth Hormone-Releasing Hormone; Human Growth Hormone; Humans; Hypoglycemic Agents; Insulin; Metabolism, Inborn Errors	2007
Treatment of congenital hyperammonemias. Enzyme, 1984, Volume: 32, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Humans; Metabolism, Inborn Errors; Nitrogen; Serotonin; Urea	1984
The treatment of inborn errors of the urea cycle. Nature, 1981, Jun-04, Volume: 291, Issue:5814 Topics: Ammonia; Arginine; Humans; Metabolism, Inborn Errors; Ornithine; Urea	1981
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias. European journal of pediatrics, 1980, Volume: 134, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Child, Preschool; Citrulline; Female; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Middle Aged; Orotic Acid	1980
Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse. Journal of inherited metabolic disease, 1995, Volume: 18, Issue:1 Topics: Amino Acid Oxidoreductases; Animals; Arginine; Biopterins; Brain; GTP Cyclohydrolase; Kinetics; Metabolism, Inborn Errors; Mice; Mice, Inbred C57BL; Mice, Inbred CBA; Mutation; Nitric Oxide Synthase	1995
Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatric research, 1994, Volume: 36, Issue:3 Topics: Arginine; Brain; Creatine; Humans; Infant; Magnetic Resonance Spectroscopy; Male; Metabolism, Inborn Errors; Phosphocreatine	1994
Therapeutic trial of arginine restriction in creatine deficiency syndrome. European journal of pediatrics, 1998, Volume: 157, Issue:7 Topics: Arginine; Child, Preschool; Creatine; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Metabolism, Inborn Errors; Methyltransferases	1998
Short children with familial short stature show enhancement of somatotroph secretion but normal IGF-I levels. Journal of endocrinological investigation, 2002, Volume: 25, Issue:5 Topics: Arginine; Body Height; Child; Female; Growth Disorders; Growth Hormone-Releasing Hormone; Human Growth Hormone; Humans; Male; Metabolism, Inborn Errors; Pituitary Gland, Anterior; Reference Values	2002
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
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
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
The pathobiochemistry of uremia and hyperargininemia further demonstrates a metabolic relationship between urea and guanidinosuccinic acid. Metabolism: clinical and experimental, 1992, Volume: 41, Issue:9 Topics: Adult; Aged; Aged, 80 and over; Arginine; Female; Guanidines; Humans; Kidney Diseases; Male; Metabolism, Inborn Errors; Middle Aged; Succinates; Urea; Uremia	1992
High-performance liquid chromatographic assay of argininosuccinate: its application in argininosuccinic aciduria and in normal man. Journal of inherited metabolic disease, 1986, Volume: 9, Issue:1 Topics: Arginine; Argininosuccinic Acid; Chromatography, High Pressure Liquid; Humans; Indicators and Reagents; Metabolism, Inborn Errors; Reference Values; Urea	1986
The effects of fetal energy depletion on amniotic fluid concentrations of amino acids, organic acids and related metabolites. Journal of inherited metabolic disease, 1988, Volume: 11, Issue:1 Topics: Adenosine Triphosphate; Amino Acids; Amniotic Fluid; Arginine; Aspartic Acid; Asphyxia Neonatorum; Diagnosis, Differential; Female; Fetus; Humans; Hypoxanthine; Hypoxanthines; Infant, Newborn; Metabolism, Inborn Errors; Ornithine; Pregnancy; Uridine	1988
Guanidino compounds in hyperargininemia. The Tohoku journal of experimental medicine, 1987, Volume: 153, Issue:3 Topics: Arginase; Arginine; Child; Erythrocytes; Guanidines; Humans; Male; Metabolism, Inborn Errors	1987
A new phagocytosis-stimulating tetrapeptide hormone, tuftsin, and its role in disease. Journal of the Reticuloendothelial Society, 1972, Volume: 12, Issue:2 Topics: Adolescent; Animals; Arginine; Child, Preschool; Complement System Proteins; Dogs; Female; gamma-Globulins; Guinea Pigs; Humans; Immunoglobulin Fragments; Infant, Newborn; Leukocytes; Lysine; Male; Metabolism, Inborn Errors; Oligopeptides; Phagocytosis; Proline; Splenectomy; Splenic Diseases; Staphylococcal Infections; Staphylococcus; Streptococcal Infections; Threonine; Trypsin	1972
Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens. Biochemical genetics, 1972, Volume: 6, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Bacillus subtilis; Biological Assay; Carboxy-Lyases; Electrophoresis, Starch Gel; Enzymes; Erythrocytes; Glycolysis; Humans; Immunoelectrophoresis; Infant, Newborn; Lyases; Mass Screening; Metabolism, Inborn Errors; Methods; Orotic Acid; Pyrimidine Nucleotides; Succinates	1972
Arginosuccinicaciduria. The hair abnormality. American journal of diseases of children (1960), 1974, Volume: 127, Issue:5 Topics: Amino Acids; Ammonia; Arginine; Ataxia; Blood Urea Nitrogen; Child, Preschool; Chromatography, Paper; Cystine; Electroencephalography; Epilepsy, Tonic-Clonic; Female; Hair; Humans; Intellectual Disability; Metabolism, Inborn Errors; Stress, Mechanical; Succinates; Syndrome	1974
Evaluation of a simple screening test for serum anti-trypsin activity. Clinica chimica acta; international journal of clinical chemistry, 1974, Nov-08, Volume: 56, Issue:3 Topics: alpha 1-Antitrypsin; Arginine; Benzyl Compounds; Citrates; Edetic Acid; Evaluation Studies as Topic; Female; Heparin; Humans; Hydrogen-Ion Concentration; Kinetics; Male; Mass Screening; Metabolism, Inborn Errors; Methods; Time Factors; Trypsin; Trypsin Inhibitors	1974
Screening for biochemical abnormalities in the urine of the mentally handicapped in Dublin. Journal of mental deficiency research, 1972, Volume: 16, Issue:2 Topics: Adolescent; Adult; Amino Acids; Arginine; Child; Child, Preschool; Chromatography, Paper; Cystinuria; Female; Glycine; Glycosaminoglycans; Glycosuria; Homocystinuria; Hospitals, Psychiatric; Humans; Indoles; Infant; Intellectual Disability; Ireland; Lysine; Male; Metabolism, Inborn Errors; Phenylketonurias; Polysaccharides; Proteinuria; Succinates	1972
Detection of inborn errors of metabolism. III. Defects in urea cycle metabolism. Clinical genetics, 1974, Volume: 6, Issue:2 Topics: Arginine; Autoradiography; Carbon Radioisotopes; Cells, Cultured; Citrulline; Fibroblasts; Humans; Ligases; Lyases; Metabolism, Inborn Errors; Succinates	1974
Short-term response of plasma amino acids to HGH. Acta endocrinologica. Supplementum, 1973, Volume: 173 Topics: Amino Acids; Arginine; Female; Growth Hormone; Humans; Insulin; Male; Metabolism, Inborn Errors; Radioimmunoassay	1973
Myotonic dystrophy: investigation of the proposed defect in guanidoacetic acid synthesis. Journal of neurology, neurosurgery, and psychiatry, 1972, Volume: 35, Issue:6 Topics: Acetates; Arginine; Glycine; Guanidines; Humans; Kidney Cortex; Metabolism, Inborn Errors; Myotonic Dystrophy; Transferases	1972
[Congenital hyperammoniemia caused by ornithine carbamoyl-transferase and carbamyl phosphate synthetase deficiency]. Archives francaises de pediatrie, 1972, Volume: 29, Issue:5 Topics: Adenosine Triphosphate; Alanine; Amino Acids; Ammonia; Arginine; Biopsy; Blood Urea Nitrogen; Carbamates; Female; Humans; Infant; Intestines; Liver; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Pedigree; Phosphotransferases; Proteins; Urea	1972
Argininosuccinate lyase levels in blood, liver and cultured fibroblasts of a patient with argininosuccinic aciduria. Clinica chimica acta; international journal of clinical chemistry, 1973, Jun-14, Volume: 46, Issue:1 Topics: Arginine; Carbon Isotopes; Erythrocytes; Fibroblasts; Humans; Liver; Lyases; Male; Metabolism, Inborn Errors; Succinates	1973
Free amino acids and carbohydrates in the cerebrospinal fluid of 305 mentally retarded patients: a screening study. Journal of mental deficiency research, 1973, Volume: 17, Issue:2 Topics: Adolescent; Adult; Alanine; Amino Acids; Arginine; Carbohydrates; Child; Child, Preschool; Chromatography, Thin Layer; Cystine; Epilepsy; Female; Glutamates; Glutamine; Humans; Intellectual Disability; Intelligence Tests; Isoleucine; Leucine; Lysine; Male; Metabolism, Inborn Errors; Methionine; Middle Aged; Ornithine; Phenylalanine; Pneumoencephalography; Threonine; Valine	1973
Argininosuccinic aciduria: perinatal diagnosis and early dietary management. The Journal of pediatrics, 1974, Volume: 85, Issue:1 Topics: Adult; Ammonia; Amniotic Fluid; Arginine; Blood; Child, Preschool; Chromatography, Ion Exchange; Diet Therapy; Dietary Proteins; Erythrocytes; Female; Hair; Humans; Infant, Newborn; Lyases; Metabolism, Inborn Errors; Pregnancy; Prenatal Diagnosis; Skin Diseases; Succinates; Umbilical Cord	1974
Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigations in 3 new families. Archives of disease in childhood, 1974, Volume: 49, Issue:6 Topics: Alanine; Ammonia; Arginine; Child, Preschool; Citrulline; Female; Genes, Dominant; Genetic Linkage; Glutamates; Glutamine; Glycine; Humans; Leucine; Liver; Lysine; Male; Metabolism, Inborn Errors; Ornithine; Ornithine Carbamoyltransferase; Sex Chromosomes	1974
Early dietary management in an infant with argininosuccinase deficiency: preliminary report. The Journal of pediatrics, 1972, Volume: 80, Issue:4 Topics: Ammonia; Arginine; Blood Urea Nitrogen; Child Development; Child, Preschool; Citrulline; Diet Therapy; Dietary Proteins; Female; Growth; Humans; Infant; Lyases; Metabolism, Inborn Errors; Succinates	1972
Argininosuccinic aciduria. Neonatal variant with rapid fatal course. Acta paediatrica Scandinavica, 1969, Volume: 58, Issue:5 Topics: Arginase; Arginine; Blood Urea Nitrogen; Brain Chemistry; Chromatography, Paper; Citrulline; Female; Humans; Infant, Newborn; Lyases; Metabolism, Inborn Errors; Ornithine; Succinates; Urea	1969
Two-dimensional thin-layer chromatography on two-layer plates of amino acids. Clinical chemistry, 1970, Volume: 16, Issue:8 Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cellulose; Chromatography, Thin Layer; Histidine; Humans; Metabolism, Inborn Errors; Methods; Solvents; Succinates	1970
The microangiopathic lesions of diabetes mellitus: an evaluation of possible causative factors. Transactions of the Association of American Physicians, 1970, Volume: 83 Topics: Adult; Age Factors; Aged; Aneurysm; Arginine; Basement Membrane; Blood Glucose; Capillaries; Carbohydrate Metabolism; Cholesterol; Diabetes Mellitus; Diabetic Angiopathies; Diabetic Retinopathy; Diagnosis, Differential; Dwarfism; Fundus Oculi; Glucose Tolerance Test; Growth Hormone; Humans; Hyperlipidemias; Insulin; Insulin Secretion; Metabolism, Inborn Errors; Microscopy, Electron; Middle Aged; Ophthalmoscopy; Time Factors; Triglycerides	1970
[Hereditary anomalies of the urea cycle]. La Presse medicale, 1968, May-18, Volume: 76, Issue:24 Topics: Ammonia; Arginine; Citrulline; Humans; Ligases; Lyases; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Phosphotransferases; Succinates; Urea	1968
Detection of argininosuccinic aciduria by gas chromatography. Clinica chimica acta; international journal of clinical chemistry, 1969, Volume: 23, Issue:1 Topics: Arginine; Aspartic Acid; Ataxia; Chemical Precipitation; Chromatography, Gas; Epilepsy; Esters; Humans; Hydrogen-Ion Concentration; Intellectual Disability; Liver Diseases; Metabolism, Inborn Errors; Methods; Ornithine; Spectrum Analysis; Succinates	1969
Enzymes in noncultured amniotic fluid cells. American journal of obstetrics and gynecology, 1969, Mar-01, Volume: 103, Issue:5 Topics: Acid Phosphatase; Alkaline Phosphatase; Amino Acids; Amnion; Amniotic Fluid; Arginase; Arginine; Caproates; Carboxy-Lyases; Female; Galactose; Glucosephosphate Dehydrogenase; Glucosidases; Glucuronidase; Humans; L-Lactate Dehydrogenase; Ligases; Metabolism, Inborn Errors; Mixed Function Oxygenases; Nucleotidyltransferases; Oxidoreductases; Phosphogluconate Dehydrogenase; Pregnancy; Pregnancy Complications; Punctures; Transaminases; Transferases	1969
Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase. Archives of disease in childhood, 1969, Volume: 44, Issue:234 Topics: Alanine; Amino Acids; Ammonia; Arginine; Citrates; Citric Acid Cycle; Diet Therapy; Dietary Proteins; Glutamine; Humans; Infant; Intellectual Disability; Liver; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Proteins; Pyrimidines; Vomiting	1969
Karyotype in two cases of arginino-succinuria. Annales paediatrici. International review of pediatrics, 1966, Volume: 206, Issue:1 Topics: Arginine; Chromosomes; Female; Humans; In Vitro Techniques; Karyotyping; Male; Metabolism, Inborn Errors; Succinates; Urine	1966