arginine and Intellectual Disability

arginine has been researched along with Intellectual Disability in 91 studies

Research

Studies (91)

Timeframe	Studies, this research(%)	All Research%
pre-1990	61 (67.03)	18.7374
1990's	4 (4.40)	18.2507
2000's	9 (9.89)	29.6817
2010's	13 (14.29)	24.3611
2020's	4 (4.40)	2.80

Authors

Authors	Studies
Kim, J; Manning, MA; Niehaus, AD	1
Arunachalam, P; Choe, CU; Gelderblom, M; Gerloff, C; Jensen, M; Magnus, T; Müller, C; Schwedhelm, E; Zeller, T	1
Banka, S; Clayton-Smith, J; Jackson, A; Lovell, S; Robinson, H; Stewart, H	1
Afrantou, T; Bakirtzis, C; Boziki, MK; Grigoriadis, N; Smyrni, N	1
Agrawal, PB; Dudenhausen, EE; El Achkar, CM; Genetti, CA; Kilberg, MS; Lomelino, CL; McKenna, R; Olson, HE; Rodan, L; Sacharow, SJ	1
Bandeira, AO; Bruun, TUJ; Debray, FG; Ficicioglu, C; Goldstein, J; Joost, K; Koeberl, DD; Luísa, D; Mercimek-Andrews, S; Nassogne, MC; O'Sullivan, S; Õunap, K; Salomons, GS; Schulze, A; Sidky, S; van Maldergem, L	1
Birnbaum, R; Gur, H; Kidron, D; Lerman-Sagie, T; Lev, D; Malinger, G; Yanoov-Sharav, M; Yosha-Orpaz, N; Yosovich, K	1
Blumenthal, RM; Cheng, X; Horton, JR; Huang, Y; Li, J; Yang, J; Zhang, X	1
Angle, B; Araújo, HC; Barshop, B; Coskun, T; Diogo, L; Geraghty, M; Grolik, C; Haliloglu, G; Konstantopoulou, V; Korenke, GC; Leuzzi, V; Levtova, A; Longo, N; Mackenzie, J; Maranda, B; Marquart, I; Mercimek-Mahmutoglu, S; Mhanni, AA; Mitchell, G; Morris, A; Newlove, T; Nyhan, W; Renaud, D; Scaglia, F; Schlune, A; Schulze, A; Stockler-Ipsiroglu, S; Valayannopoulos, V; van Karnebeek, C; van Spronsen, FJ; Verbruggen, KT; Yuskiv, N	1
Braissant, O	1
Nguyen, T; Pitt, JJ; Tzanakos, N	1
Atzler, D; Chobanyan-Jürgens, K; Choe, CU; Frölich, JC; Huneau, JF; Kayacelebi, AA; Langen, J; Lücke, T; Mariotti, F; Rothmann, S; Schneider, JY; Schwedhelm, E; Tsikas, D; Weigt-Usinger, K	1
Blaser, S; Boycott, KM; Chitayat, D; Dyment, DA; Kernohan, KD; Majewski, J; Martin, N; McBride, A; Schwartzentruber, J; Xi, Y	1
Fuchs, O; Pfarr, N; Pohlenz, J; Schmidt, H	1
Coppus, AM; Fekkes, D; Tuinier, S; van Duijn, CM; Verhoeven, WM	1
Afenjar, A; Barbier, V; Boddaert, N; Chabli, A; Cheillan, D; de Keyzer, Y; de Lonlay, P; Desguerre, I; Jakobs, C; Mazzuca, M; Munnich, A; Philippe, A; Salomons, GS; Valayannopoulos, V	1
Ben-Omran, T; El-Fishawy, P; Ercan-Sencicek, AG; Gabriel, S; Gleeson, JG; Gupta, AR; Harris, RA; Hashem, HS; Hashish, AF; Kara, M; Kayserili, H; Khalil, RO; Matern, D; Meguid, NA; Novarino, G; Rahimi, Y; Sanders, SJ; Schroth, J; Scott, EM; Silhavy, JL; State, MW; Sweetman, L	1
Annesi, G; Bruno, E; Cavalcanti, F; Dibilio, V; Gagliardi, M; Gambardella, A; Mostile, G; Nicoletti, A; Quattrone, A; Tarantino, P; Zappia, M	1
Denman, RB	1
HALBERG, F; VAN PILSUM, JF	1
COFFEY, VP	1
GROSFELD, JC; MIGHORST, JA; MOOLHUYSEN, TM	1
PERALTASERRANO, A	1
LEUCHTE, G; SCHREIER, K	1
BRAUNSTEINER, H; SAILER, S; SANDHOFER, F	1
Bachmann, C	1
Afridi, SK; Chih, B; Clark, L; Scheiffele, P	1
Courtecuisse, V; Dommergues, JP; Girard, F; Limal, JM	1
Büsse-Ratzka, M; Collmann, H; Hoppe, F; Krauss, J; Kress, W; Kunz, J; Lieb, G; Pahnke, J; Petersen, B; Reinhart, E; Schäfer, WD; Schropp, C; Sold, J; Sörensen, N; Trusen, A	1
De Vries, BB; Ferrari, MD; Frants, RR; Haan, J; Koenderink, JB; Kors, EE; Stam, AH; Stroink, H; Terwindt, GM; van den Boogerd, EH; van den Heuvel, JJ; van den Maagdenberg, AM; Vanmolkot, KR	1
Clark, RD; Friez, MJ; Graham, JM; Jones, JR; Joseph, SM; May, M; Moeschler, JB; Opitz, JM; Peiffer, AP; Risheg, H; Rogers, RC; Schwartz, CE; Stevenson, RE	1
Appleton, D; Coman, D; Jaeken, J; Klingberg, S; MacDonald, R; McGill, J; Morris, D	1
Akinci, A; Alkan, A; Firat, AK; Güngör, S; Tabel, Y	1
Westall, RG	1
Levin, B	1
Brown, H; Diamond, R; Efron, ML; Moser, HW; Neumann, CG	1
Armstrong, MD; Robinow, M	1
McLean, P; Miller, AL	1
Barness, LA; Efron, ML; Morrow, G	1
Wu, WK	1
Puukka, M; Ruokonen, A; Similä, S; von Wendt, L	1
Grisar, T	1
Batshaw, ML; Brusilow, S; Painter, MJ; Schafer, IA; Sproul, GT; Thomas, GH	1
Gök, F; Gökçay, E; Gül, D; Sayli, BS	1
Baraister, M; Dean, JC; Evans, RD; Hall, CM; Hayward, R; Jones, BM; Malcolm, S; Nevin, NC; Pulleyn, LJ; Reardon, W; Rutland, P; Wilkes, D; Winter, RM	1
Chitayat, D; Fransen, E; Holden, JJ; Van Camp, G; Vits, L; Willems, PJ	1
Ai, LS; Hsieh, M; Li, C; Lin, CH	1
Nakao, T; Oyanagi, K; Sogawa, H	1
Jarosch, E; Plöchl, E	1
Nakao, T; Orii, T; Oyanagi, K; Sato, S; Sogawa, H	1
Colombo, JP; Lavinha, F; Lowenthal, A; Terheggen, HG	1
Eskelin, LE; Perheentupa, J; Rapola, J; Simell, O; Visakorpi, JK	1
Baryshnikov, VA; Ermolina, LA; Turova, NF	1
Danks, DM; Haan, EA; Hayasaka, K; Kirby, DM; Tada, K	1
Bernar, J; Cederbaum, SD; Hanson, RA; Kern, R; Phoenix, B; Shaw, KN	1
Hambraeus, L; Hardell, LI; Hjorth, G; Lorentsson, R; Westphal, O	1
Fluharty, AL; Kihara, H; Porter, MT; Valente, M	1
Rawnsley, HM; Shelly, WB	1
Potter, JL; Silvidi, AA; Timmons, GD; West, R	1
Friesen, H; Pozsonyi, J	1
Coffey, VP; Martin, MC; Moore, PT	1
Ferrier, PE; Stone, EF	1
Bejar, RL; Nyhan, WL; Park, S; Smith, GF; Spellacy, WN; Wolfson, SL	1
Burgess, EA; Oberholzer, VG; Palmer, T; Wagstaff, TI	1
Bicknell, J; Cavanagh, NP; Howard, F	1
Brenton, DP; Cusworth, DC; Hartley, S; Kuzemko, JA; Lumley, S	1
Baños, G; Daniel, PM; Moorhouse, SR; Pratt, OE	1
Woody, NC	1
Jagenburg, R; Meberg, A; Steen, G	1
Colombo, JP; Lowenthal, A; Rogers, S; Schwenk, A; Terheggen, HG; Van Sande, M	1
Cederbaum, SD; Cotton, ME; Shaw, KN; Valente, M	1
Eastman, CJ; Lazarus, L	1
Cervantes, C; Parra, A; Schultz, RB	1
Oldendorf, WH	1
Iivanainen, M; Palo, J; Savolainen, H	1
Fell, V; Pollitt, RJ; Sampson, GA; Wright, T	1
Menne, F	1
Szliwowski, HB; Thiriar, MJ; Vis, HL	1
Adams, ED; Brown, JH; Fabre, LF; Farrell, GL	1
Berry, HK	1
Durey, D; Landry, M	1
Lewis, PD; Miller, AL	1
Miura, R; Oyanagi, K; Yamanouchi, T	1
Greer, M; Sprinkle, T; Williams, CM	1
Burgess, EA; Dobbs, RH; Levin, B; Palmer, T	1
Bartsocas, CS; Crawford, JD; Levy, HL; Thier, SO	1
Bieber, G; Cesario, S	1
Hirsch, W; Mex, A; Vogel, F	1
Dolan, TF; Nelligan, DJ; Shih, VE; Solitare, GB	1
Peralta Serrano, A	1

Reviews

3 review(s) available for arginine and Intellectual Disability

Article	Year
Phenotypic variability in RERE-related disorders and the first report of an inherited variant. American journal of medical genetics. Part A, 2022, Volume: 188, Issue:11 Topics: Arginine; Autism Spectrum Disorder; Biological Variation, Population; Carrier Proteins; Dipeptides; Female; Glutamic Acid; Humans; Intellectual Disability; Musculoskeletal Abnormalities; Neurodevelopmental Disorders; Phenotype	2022
Arginnosuccinic aciduria. Nutrition reviews, 1967, Volume: 25, Issue:8 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Arginine; Blood Urea Nitrogen; Child, Preschool; Citrulline; Humans; Intellectual Disability; Lyases; Rats; Succinates	1967
[Feeble mindedness caused by genetic disorders of amino acid metabolism]. Hippokrates, 1968, May-31, Volume: 39, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Intellectual Disability; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Sarcosine; Succinates; Transferases; Tryptophan; Valine	1968

Trials

2 trial(s) available for arginine and Intellectual Disability

Article	Year
Biosynthesis of homoarginine (hArg) and asymmetric dimethylarginine (ADMA) from acutely and chronically administered free L-arginine in humans. Amino acids, 2015, Volume: 47, Issue:9 Topics: Adolescent; Adult; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Child; Coronary Artery Disease; Developmental Disabilities; Female; Guanidinoacetate N-Methyltransferase; Homoarginine; Humans; Intellectual Disability; Language Development Disorders; Male; Mice; Mice, Knockout; Middle Aged; Movement Disorders; Peripheral Arterial Disease; Speech Disorders	2015
[Results of clinical experimentation with arginine N-acetyl-asparaginate (C.E. 387) in 2 groups of mentally deficient children (double blind study)]. Revue de neuropsychiatrie infantile et d'hygiene mentale de l'enfance, 1966, Volume: 14, Issue:9 Topics: Arginine; Asparagine; Child; Clinical Trials as Topic; Female; Humans; Intellectual Disability; Male	1966

Article

Year

Biosynthesis of homoarginine (hArg) and asymmetric dimethylarginine (ADMA) from acutely and chronically administered free L-arginine in humans.

Amino acids, 2015, Volume: 47, Issue:9

Topics: Adolescent; Adult; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Child; Coronary Artery Disease; Developmental Disabilities; Female; Guanidinoacetate N-Methyltransferase; Homoarginine; Humans; Intellectual Disability; Language Development Disorders; Male; Mice; Mice, Knockout; Middle Aged; Movement Disorders; Peripheral Arterial Disease; Speech Disorders

2015

[Results of clinical experimentation with arginine N-acetyl-asparaginate (C.E. 387) in 2 groups of mentally deficient children (double blind study)].

Revue de neuropsychiatrie infantile et d'hygiene mentale de l'enfance, 1966, Volume: 14, Issue:9

Topics: Arginine; Asparagine; Child; Clinical Trials as Topic; Female; Humans; Intellectual Disability; Male

1966

Other Studies

86 other study(ies) available for arginine and Intellectual Disability

Article	Year
Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency. International journal of molecular sciences, 2020, Mar-09, Volume: 21, Issue:5 Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Brain; Creatine; Developmental Disabilities; Gene Expression Regulation; Glycine; Homoarginine; Intellectual Disability; Mice; Mice, Inbred C57BL; Speech Disorders; Stroke	2020
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype. American journal of medical genetics. Part A, 2021, Volume: 185, Issue:10 Topics: Adolescent; Arginine; Child; Child, Preschool; Epilepsy; Female; Genetic Predisposition to Disease; Humans; Hypertrichosis; Intellectual Disability; Megalencephaly; Musculoskeletal Abnormalities; Mutation, Missense; Phenotype; Potassium Channels, Sodium-Activated	2021
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
Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Molecular genetics and metabolism, 2018, Volume: 123, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Asparagine; Aspartate-Ammonia Ligase; Binding Sites; Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor; Child; Child, Preschool; Consanguinity; DNA Mutational Analysis; Female; Fibroblasts; Glutamine; Homozygote; Humans; Intellectual Disability; Male; Models, Molecular; Mutation; Seizures; Siblings	2018
Treatment outcome of creatine transporter deficiency: international retrospective cohort study. Metabolic brain disease, 2018, Volume: 33, Issue:3 Topics: Adolescent; Adult; Arginine; Child; Child, Preschool; Creatine; Creatinine; Female; Genotype; Glycine; Humans; Infant; Intellectual Disability; Male; Membrane Transport Proteins; Phenotype; Seizures; Treatment Outcome; Young Adult	2018
Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations. American journal of medical genetics. Part A, 2019, Volume: 179, Issue:1 Topics: Arginine; Astrocytoma; Brachydactyly; Developmental Disabilities; Female; Fetal Growth Retardation; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Methylation; Muscle Hypotonia; Mutation; Orbital Neoplasms; Pregnancy; Protein-Arginine N-Methyltransferases	2019
Structural basis for preferential binding of human TCF4 to DNA containing 5-carboxylcytosine. Nucleic acids research, 2019, 09-19, Volume: 47, Issue:16 Topics: Amino Acid Sequence; Arginine; Binding Sites; Cloning, Molecular; Cytosine; DNA; Electrophoretic Mobility Shift Assay; Escherichia coli; Facies; Gene Expression; Humans; Hyperventilation; Intellectual Disability; Models, Molecular; Mutation; Nucleotide Motifs; Protein Binding; Protein Conformation, alpha-Helical; Protein Interaction Domains and Motifs; Recombinant Proteins; Sequence Alignment; Sequence Homology, Amino Acid; Thymine; Transcription Factor 4	2019
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Molecular genetics and metabolism, 2014, Volume: 111, Issue:1 Topics: Adolescent; Adult; Arginine; Brain; Child; Child, Preschool; Combined Modality Therapy; Creatine; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Infant; Infant, Newborn; Intellectual Disability; Language Development Disorders; Male; Middle Aged; Movement Disorders; Ornithine; Practice Guidelines as Topic; Sodium Benzoate; Treatment Outcome; Young Adult	2014
GAMT deficiency: 20 years of a treatable inborn error of metabolism. Molecular genetics and metabolism, 2014, Volume: 111, Issue:1 Topics: Arginine; Creatine; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Intellectual Disability; Language Development Disorders; Male; Movement Disorders; Ornithine; Sodium Benzoate	2014
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
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. Clinical genetics, 2017, Volume: 91, Issue:5 Topics: Abnormalities, Multiple; Arginine; Brachydactyly; Child, Preschool; Chromosomes, Human, Pair 16; Face; Female; Fingers; Gene Deletion; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Protein-Arginine N-Methyltransferases; Transcription Initiation Site; Wnt Signaling Pathway	2017
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation. Developmental medicine and child neurology, 2009, Volume: 51, Issue:3 Topics: Arginine; Child; Chorea; Developmental Disabilities; DNA Mutational Analysis; Enzyme-Linked Immunosorbent Assay; Histidine; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Monocarboxylic Acid Transporters; Mutation; Symporters; Triiodothyronine	2009
Plasma levels of nitric oxide related amino acids in demented subjects with Down syndrome are related to neopterin concentrations. Amino acids, 2010, Volume: 38, Issue:3 Topics: Alzheimer Disease; Amino Acids; Amino Acids, Aromatic; Amino Acids, Branched-Chain; Arginine; Citrulline; Cohort Studies; Dementia; Depression; Down Syndrome; Epilepsy; Female; Humans; Intellectual Disability; Male; Middle Aged; Neopterin; Nitric Oxide; Oxidative Stress; Severity of Illness Index	2010
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:1 Topics: Administration, Oral; Adolescent; Amino Acid Transport Disorders, Inborn; Arginine; Child; Child, Preschool; Cognition Disorders; Creatine; Female; Glycine; Humans; Intellectual Disability; Magnetic Resonance Spectroscopy; Male; Membrane Transport Proteins; Nerve Tissue Proteins; Plasma Membrane Neurotransmitter Transport Proteins	2012
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (New York, N.Y.), 2012, Oct-19, Volume: 338, Issue:6105 Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Adolescent; Amino Acids, Branched-Chain; Animals; Arginine; Autistic Disorder; Base Sequence; Brain; Child; Child, Preschool; Diet; Epilepsy; Female; Homozygote; Humans; Intellectual Disability; Male; Mice; Mice, Knockout; Molecular Sequence Data; Mutation; Pedigree; Phosphorylation; Protein Folding; Protein Structure, Tertiary; RNA, Messenger; Young Adult	2012
Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy. Cerebellum (London, England), 2013, Volume: 12, Issue:4 Topics: Adult; Arginine; Female; Heat-Shock Proteins; Histidine; Humans; Intellectual Disability; Italy; Muscle Spasticity; Mutation, Missense; Optic Atrophy; Sicily; Spinocerebellar Ataxias	2013
Methylation of the arginine-glycine-rich region in the fragile X mental retardation protein FMRP differentially affects RNA binding. Cellular & molecular biology letters, 2002, Volume: 7, Issue:3 Topics: Arginine; Binding Sites; Cloning, Molecular; DNA Methylation; Escherichia coli; Fragile X Mental Retardation Protein; Fragile X Syndrome; Glycine; Humans; Intellectual Disability; Nerve Tissue Proteins; Recombinant Proteins; RNA; RNA-Binding Proteins; Transcription, Genetic	2002
A method for the determination of argininosuccinic acid in human urine. American journal of mental deficiency, 1962, Volume: 67 Topics: Arginine; Argininosuccinic Acid; Body Fluids; Humans; Intellectual Disability; Succinates	1962
MENTAL RETARDATION AND THE INBORN ERRORS OF METABOLISM. Journal of the Irish Medical Association, 1964, Volume: 54 Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Fructose; Galactosemias; Histidine; Homocysteine; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Metabolic Diseases; Phenylketonurias; Renal Aminoacidurias; Vitamin B 6 Deficiency	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
[OLIGOPHRENIA, CONVULSIONS AND ARGININURIA]. Acta pediatrica espanola, 1964, Volume: 22 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Body Fluids; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Seizures; Urine	1964
[ARGININE SUCCINIC ACID DISEASE]. Deutsche medizinische Wochenschrift (1946), 1965, May-07, Volume: 90 Topics: Arginine; Humans; Infant; Intellectual Disability; Metabolic Diseases; Succinates; Succinic Acid; Urine	1965
[ACTIVITY OF ENDOGENOUS LIPOPROTEINS AND LIPASE IN THE BLOOD OF NORMAL SUBJECTS AND PATIENTS WITH ESSENTIAL HYPERLIPEMIA]. Deutsche medizinische Wochenschrift (1946), 1965, May-07, Volume: 90 Topics: Arginine; Humans; Hyperlipidemias; Infant; Intellectual Disability; Lipase; Lipoproteins; Metabolic Diseases; Succinates; Urine	1965
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
Disorder-associated mutations lead to functional inactivation of neuroligins. Human molecular genetics, 2004, Jul-15, Volume: 13, Issue:14 Topics: Animals; Arginine; Aspartic Acid; Autistic Disorder; Carrier Proteins; Cell Adhesion Molecules, Neuronal; Chlorocebus aethiops; COS Cells; Genetic Predisposition to Disease; Hippocampus; Humans; Intellectual Disability; Membrane Proteins; Mutation, Missense; Nerve Tissue Proteins; Neurons; Point Mutation; Protein Transport	2004
[Growth in height, bone and endocrine abnormalities in hypoplasia of the intrahepatic bile ducts. Eleven cases]. Annales de pediatrie, 1976, Volume: 23, Issue:8-9 Topics: Abnormalities, Multiple; Adolescent; Adult; Arginine; Bile Ducts, Intrahepatic; Body Height; Bone and Bones; Cardiovascular Abnormalities; Child; Child, Preschool; Cholestasis; Endocrine System; Female; Fibrosis; Follow-Up Studies; Growth Disorders; Growth Hormone; Humans; Intellectual Disability; Male; Ornithine; Osteoporosis; Syndrome; Testis	1976
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. European journal of human genetics : EJHG, 2006, Volume: 14, Issue:1 Topics: Acrocephalosyndactylia; Adolescent; Amino Acid Substitution; Arginine; Child, Preschool; Ear; Hearing Loss, Sensorineural; Humans; Intellectual Disability; Intracranial Pressure; Mutation; Nuclear Proteins; Pedigree; Proline; Receptor, Fibroblast Growth Factor, Type 3; Repetitive Sequences, Nucleic Acid; Syndrome; Synostosis; Twist-Related Protein 1	2006
Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. Annals of neurology, 2006, Volume: 59, Issue:2 Topics: Arginine; Blotting, Northern; Blotting, Western; Child; DNA Mutational Analysis; Electroencephalography; Female; Gene Expression; Glycine; HeLa Cells; Humans; Intellectual Disability; Magnetic Resonance Imaging; Migraine with Aura; Mutagenesis; Mutation; Sodium-Potassium-Exchanging ATPase; Transfection	2006
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nature genetics, 2007, Volume: 39, Issue:4 Topics: Amino Acid Substitution; Arginine; Family; Female; Genetic Diseases, X-Linked; Humans; Intellectual Disability; Male; Mediator Complex; Muscle Hypotonia; Mutation; Pedigree; Receptors, Thyroid Hormone; Syndrome; Tryptophan	2007
Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 2007, Volume: 14, Issue:7 Topics: Adult; Arginine; Ataxia; Cerebellar Diseases; Congenital Disorders of Glycosylation; Female; Histidine; Humans; Intellectual Disability; Lysine; Magnetic Resonance Imaging; Male; Mutation; Osteoporosis; Phenotype; Phosphotransferases (Phosphomutases); Siblings	2007
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
Treatment of arginosuccinic aciduria. American journal of diseases of children (1960), 1967, Volume: 113, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Arginine; Child; Child, Preschool; Diet Therapy; Female; Fumarates; Hair; Humans; Infant; Intellectual Disability; Lyases; Male; Rats	1967
Arginosuccine aciduria. American journal of diseases of children (1960), 1967, Volume: 113, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Citrates; Diet Therapy; Glutamates; Humans; Infant; Intellectual Disability; Ligases; Lyases; Male; Phosphorus; Urea	1967
Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. The American journal of medicine, 1967, Volume: 42, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Chromatography, Paper; Citrulline; Electroencephalography; Electrophoresis; Female; Humans; Intellectual Disability; Male; Microchemistry; Succinates	1967
A case of hyperlysinemia: biochemical and clinical observations. Pediatrics, 1967, Volume: 39, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Autoanalysis; Child, Preschool; Chromatography, Paper; Citrulline; Humans; Intellectual Disability; Lysine; Male; Ornithine	1967
Urea cycle enzymes in the liver of a patient with argininosuccinic aciduria. Clinical science, 1967, Volume: 32, Issue:3 Topics: Acids; Adolescent; Adult; Alkaline Phosphatase; Animals; Arginine; Clinical Enzyme Tests; Electroencephalography; Humans; Infant; Intellectual Disability; Liver; Lyases; Middle Aged; Rats; Succinates; Urea	1967
Citrullinemia with defective urea production. Pediatrics, 1967, Volume: 40, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Ligases; Liver; Seizures; Urea	1967
Inborn metabolic errors of urea cycle. Virginia medical monthly, 1967, Volume: 94, Issue:11 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chromatography; Humans; Intellectual Disability; Urea	1967
Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation. Annals of clinical research, 1982, Volume: 14, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Female; Humans; Intellectual Disability; Middle Aged; Movement Disorders; Schizophrenia	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
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
IgA deficiency associated with growth hormone deficiency in a boy with short arm deletion of chromosome 18 (46,XY,18p-). Annales de genetique, 1994, Volume: 37, Issue:2 Topics: Arginine; Child; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 18; Developmental Disabilities; Dwarfism, Pituitary; Growth Hormone; Humans; IgA Deficiency; Insulin; Intellectual Disability; Levodopa; Male; Pituitary Function Tests; Propranolol; Sequence Deletion	1994
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. Journal of medical genetics, 1997, Volume: 34, Issue:8 Topics: Acrocephalosyndactylia; Adult; Arginine; Child; Child, Preschool; Craniosynostoses; Female; Fibroblast Growth Factors; Humans; Intellectual Disability; Male; Mutation; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor	1997
Evidence for somatic and germline mosaicism in CRASH syndrome. Human mutation, 1998, Volume: Suppl 1 Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Amino Acid Substitution; Arginine; DNA; DNA Mutational Analysis; Family Health; Female; Genetic Linkage; Germ-Line Mutation; Humans; Hydrocephalus; Intellectual Disability; Leukocyte L1 Antigen Complex; Male; Membrane Glycoproteins; Mosaicism; Mutation; Neural Cell Adhesion Molecules; Pedigree; Polymorphism, Single-Stranded Conformational; Proline; Spastic Paraplegia, Hereditary; Thumb; X Chromosome	1998
Arginine methylation of a glycine and arginine rich peptide derived from sequences of human FMRP and fibrillarin. Proceedings of the National Science Council, Republic of China. Part B, Life sciences, 1999, Volume: 23, Issue:4 Topics: Amino Acid Sequence; Animals; Arginine; Brain; Chromatography, High Pressure Liquid; Chromosomal Proteins, Non-Histone; Fragile X Mental Retardation Protein; Fragile X Syndrome; Glycine; Histidine; Humans; Intellectual Disability; Methylation; Mutation, Missense; Nerve Tissue Proteins; Peptide Fragments; Rats; RNA-Binding Proteins	1999
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
[Congenital hyperlysin-arginin-ornithinuria in a mentally retarded child (author's transl)]. Monatsschrift fur Kinderheilkunde, 1977, Volume: 125, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport, Active; Child, Preschool; Humans; Intellectual Disability; Kidney; Lysine; Male; Ornithine	1977
Clinical and biochemical studies on periodic hyperammonemia with hyperlysinemia and homocitrullinuria. The Tohoku journal of experimental medicine, 1976, Volume: 120, Issue:2 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Anorexia; Arginase; Arginine; Citrulline; Erythrocytes; Growth Disorders; Humans; Intellectual Disability; Lysine; Male	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
Lysinuric protein intolerance. The American journal of medicine, 1975, Volume: 59, Issue:2 Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Birth Weight; Child; Child, Preschool; Dietary Proteins; Eye Diseases; Female; Humans; Infant; Intellectual Disability; Intestinal Absorption; Liver; Lysine; Male; Nitrogen; Ornithine; Proteins; Renal Aminoacidurias; Urea	1975
[Characteristics of the amino acid spectrum of the blood of children with intellectual deficiency]. Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1986, Volume: 86, Issue:3 Topics: Amino Acids; Ammonia; Arginine; Aspartic Acid; Child; Female; Glutamates; Glutamic Acid; Humans; Intellectual Disability; Male; Movement Disorders; Polyamines; Syndrome; Urea	1986
Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia. Observations on sisters with a mild T-protein defect. European journal of pediatrics, 1986, Volume: 145, Issue:4 Topics: Adolescent; Aminomethyltransferase; Arginine; Benzoates; Benzoic Acid; Child, Preschool; Drug Evaluation; Drug Therapy, Combination; Female; Glycine; Humans; Hydroxymethyl and Formyl Transferases; Intellectual Disability; Strychnine; Time Factors; Transferases	1986
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
Argininosuccinic aciduria. Report of three cases and the effect of high and reduced protein intake on the clinical state. Acta paediatrica Scandinavica, 1974, Volume: 63, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Blood Urea Nitrogen; Cerebellar Ataxia; Child; Developmental Disabilities; Diet Therapy; Dietary Proteins; Electroencephalography; Female; Hair; Humans; Intellectual Disability; Succinates	1974
Hyperdibasicaminoaciduria in a mentally retarded homozygote with a peculiar response to phenothiazines. Pediatrics, 1973, Volume: 51, Issue:2 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Antipsychotic Agents; Arginine; Chlorpromazine; Cystinuria; Female; Fluphenazine; Humans; Intellectual Disability; Intestinal Absorption; Kidney Tubules; Lysine; Movement Disorders; Ornithine; Pedigree; Renal Aminoacidurias; Thioridazine; Trihexyphenidyl	1973
Aminogenic alopecia. Loss of hair associated with argininosuccinic aciduria. Lancet (London, England), 1965, Dec-25, Volume: 2, Issue:7426 Topics: Acids; Adult; Alopecia; Arginine; Chromatography, Paper; Citric Acid Cycle; Dietary Proteins; Female; Humans; Intellectual Disability; Lyases; Nails; Succinates	1965
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
Growth hormone investigation in patients with mental dysfunction. Canadian Medical Association journal, 1971, Jan-09, Volume: 104, Issue:1 Topics: Adolescent; Adult; Arginine; Body Height; Body Weight; Child; Child, Preschool; Down Syndrome; Dwarfism, Pituitary; Female; Growth; Growth Disorders; Growth Hormone; Humans; Infant; Insulin; Intellectual Disability; Male; Pituitary Gland; Sex Chromosome Aberrations	1971
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
Familial pituitary dwarfism associated with an abnormal sella turcica. Pediatrics, 1969, Volume: 43, Issue:5 Topics: 17-Hydroxycorticosteroids; Adrenocorticotropic Hormone; Arginine; Blood Glucose; Body Height; Child; Dwarfism; Dwarfism, Pituitary; Female; Growth Hormone; Humans; Hypoglycemia; Intellectual Disability; Radiography; Sella Turcica; Skull; Sphenoid Bone	1969
Cerebral gigantism: concentrations of amino acids in plasma and muscle. The Journal of pediatrics, 1970, Volume: 76, Issue:1 Topics: Age Determination by Skeleton; Amino Acids; Arginine; Blood Glucose; Body Height; Child, Preschool; Dermatoglyphics; Facial Expression; Female; Gigantism; Glycine; Growth Hormone; Humans; Infant; Insulin; Intellectual Disability; Male; Muscles; Valine	1970
Argininosuccinic aciduria: antenatal investigations in an affected family. American journal of obstetrics and gynecology, 1974, Oct-15, Volume: 120, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Arginine; Chromosome Aberrations; Chromosome Disorders; Genes, Recessive; Humans; Infant; Intellectual Disability; Lyases; Male; Renal Aminoacidurias; Succinates	1974
Cystinuria with mental retardation and paroxysmal dyskinesia in 2 brothers. Archives of disease in childhood, 1974, Volume: 49, Issue:8 Topics: Arginine; Child; Cystinuria; Humans; Intellectual Disability; Lysine; Male; Movement Disorders; Ornithine	1974
Argininosuccinicaciduria: clinical, metabolic and dietary study. Journal of mental deficiency research, 1974, Volume: 18, Issue:0 Topics: Affective Symptoms; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Ataxia; Child; Citrulline; Dietary Proteins; Electroencephalography; Epilepsy; Female; Humans; Intellectual Disability; Intelligence Tests; Male; Ornithine; Phenobarbital; Seizures; Succinates; Tremor	1974
Inhibition of entry of some amino acids into the brain, with observations on mental retardation in the aminoacidurias. Psychological medicine, 1974, Volume: 4, Issue:3 Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Arginine; Biological Transport, Active; Brain; Caproates; Carbon Radioisotopes; Depression, Chemical; Drug Interactions; Humans; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Rats; Rats, Inbred Strains; Stimulation, Chemical; Threonine	1974
Letter: hyperlysinaemia. Archives of disease in childhood, 1974, Volume: 49, Issue:12 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Electroencephalography; Female; Growth; Humans; Intellectual Disability; Lysine; Male	1974
[Congenital disorders in the urea cycle]. Lakartidningen, 1972, Oct-11, Volume: 69, Issue:42 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Humans; Intellectual Disability; Male	1972
Further investigations in hyperargininemia. Monographs in human genetics, 1972, Volume: 6 Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Epilepsy; Erythrocytes; Female; Genes, Recessive; Guanidines; Humans; Intellectual Disability	1972
Argininosuccinic aciduria. American journal of mental deficiency, 1973, Volume: 77, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Chromatography, Thin Layer; Citric Acid Cycle; Diet Therapy; Humans; Infant; Intellectual Disability; Karyotyping; Male; Muscle Tonus; Muscular Diseases; Nitrogen; Seizures; Succinates; Urea	1973
Growth hormone release during sleep in growth retarded children. Archives of disease in childhood, 1973, Volume: 48, Issue:7 Topics: Adolescent; Arginine; Asthma; Body Height; Body Weight; Child; Chronic Disease; Dwarfism; Electroencephalography; Female; Growth; Growth Hormone; Humans; Hypoglycemia; Insulin; Intellectual Disability; Male; Sleep; Time Factors	1973
Immunoreactive insulin and growth hormone responses in patients with Prader-Willi syndrome. The Journal of pediatrics, 1973, Volume: 83, Issue:4 Topics: Abnormalities, Multiple; Adolescent; Antigens; Arginine; Blood Glucose; Blood Proteins; Body Weight; Child; Child, Preschool; Fatty Acids, Nonesterified; Female; Glucose Tolerance Test; Growth Hormone; Humans; Hypogonadism; Insulin; Intellectual Disability; Male; Obesity; Time Factors	1973
Saturation of blood brain barrier transport of amino acids in phenylketonuria. Archives of neurology, 1973, Volume: 28, Issue:1 Topics: Amino Acids; Animals; Arginine; Blood-Brain Barrier; Brain; Carbon Isotopes; Dihydroxyphenylalanine; Female; Histidine; Humans; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Methionine; Ornithine; Phenylalanine; Phenylketonurias; Rats; Threonine; Tryptophan; Tyrosine; Valine	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
Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport. American journal of diseases of children (1960), 1974, Volume: 127, Issue:5 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Dietary Proteins; Female; Humans; Intellectual Disability; Lysine; Mitochondria; Ornithine; Ornithine Carbamoyltransferase; Proline; Transaminases	1974
[Combined cystinuria-lysinuria in 2 brothers with mental retardation and morphologic and neurologic anomalies]. Acta neurologica et psychiatrica Belgica, 1968, Volume: 68, Issue:3 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Child; Cystinuria; Female; Humans; Infant; Intellectual Disability; Lysine; Male; Middle Aged; Ornithine	1968
Hyperlysinuria with hyperammonemia. A new metabolic disorder. American journal of diseases of children (1960), 1972, Volume: 124, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Diet Therapy; Growth Disorders; Humans; Intellectual Disability; Intestinal Absorption; Kidney Concentrating Ability; Lysine; Male; Protein Biosynthesis; Syndrome; Urea	1972
Hereditary disorders of amino acid metabolism associated with mental deficiency. Annals of the New York Academy of Sciences, 1969, Sep-30, Volume: 166, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Citrulline; Deficiency Diseases; Hartnup Disease; Homocystinuria; Humans; Intellectual Disability; Maple Syrup Urine Disease; Phenylketonurias; Succinates	1969
Argininosuccinic aciduria. Case report with neuropathological findings. Brain : a journal of neurology, 1970, Volume: 93, Issue:2 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Ataxia; Autopsy; Brain; Cerebral Cortex; Epilepsy; Humans; Intellectual Disability; Liver; Lyases; Male; Pedigree; Sleep Wake Disorders; Succinates; Thalamus	1970
Congenital lysinuria: a new inherited transport disorder of dibasic amino acids. The Journal of pediatrics, 1970, Volume: 77, Issue:2 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Child; Chromatography, Thin Layer; Consanguinity; Cystine; Cystinuria; Diarrhea; Female; Growth; Humans; Intellectual Disability; Lysine; Malabsorption Syndromes; Ornithine; Renal Aminoacidurias; Vomiting	1970
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
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
A defect in intestinal amino acid transport in Lowe's syndrome. American journal of diseases of children (1960), 1969, Volume: 117, Issue:1 Topics: Adult; Arginine; Biopsy; Carbon Isotopes; Cataract; Child, Preschool; Glaucoma; Glycine; Humans; Intellectual Disability; Intestinal Absorption; Intestinal Mucosa; Jejunum; Lysine; Male; Pyridoxine; Renal Tubular Transport, Inborn Errors; Rickets	1969
[Preliminary results of a drug therapy of a group of school-age mental retardates]. Minerva medica, 1969, May-30, Volume: 60, Issue:43 Topics: Adolescent; Amino Acids; Arginine; Child; Female; Glutamine; Humans; Intellectual Disability; Male; Serine; Threonine; Tryptophan; Vitamin B 12	1969
Metabolic traits in mentally retarded children as compared with normal populations: monoaminodicarboxylic acids and their half amides and total amino acids. Journal of mental deficiency research, 1969, Volume: 13, Issue:2 Topics: Adolescent; Alanine; Amino Acids; Arginine; Asparagine; Aspartic Acid; Child; Child, Preschool; Chromatography; Chromatography, Paper; Female; Glutamates; Glutamine; Glycine; Humans; Intellectual Disability; Male	1969
Argininosuccinic aciduria: clinical, biochemical, anatomical and neuropathological observations. Journal of mental deficiency research, 1969, Volume: 13, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Aspartic Acid; Brain; Cerebellum; Citrulline; Female; Humans; Infant; Intellectual Disability; Liver; Lyases; Myelin Sheath; Neuroglia; Succinates	1969
[Argininuria, convulsions and oligophrenia; a new inborn error of metabolism?]. Revista clinica espanola, 1965, May-15, Volume: 97, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Humans; Infant; Intellectual Disability; Male; Seizures	1965