Page last updated: 2024-08-17

lysine and Intellectual Disability

lysine has been researched along with Intellectual Disability in 64 studies

Research

Studies (64)

Timeframe	Studies, this research(%)	All Research%
pre-1990	47 (73.44)	18.7374
1990's	1 (1.56)	18.2507
2000's	2 (3.13)	29.6817
2010's	8 (12.50)	24.3611
2020's	6 (9.38)	2.80

Authors

Authors	Studies
Ancona, S; Bernardelli, C; Borghi, E; Castiglioni, S; Colombo, EA; Di Fede, E; Gervasini, C; Ghelma, F; Grazioli, P; Lesma, E; Lettieri, A; Massa, V; Milani, D; Ottaviano, E; Parodi, C; Vignoli, A	1
Feng, WC; Long, YS; Lu, P; Wu, YY; Yan, HJ; Yang, C; Zhang, L	1
Aspromonte, MC; Baldo, D; Bettella, E; Bonato, G; Carecchio, M; Ciaccio, C; D'Arrigo, S; Dilena, R; Drongitis, D; Esposito, S; Gos, M; Kaczorowska, E; Leonardi, E; Leuzzi, V; Licchetta, L; Lonardo, F; McEntagart, M; Miano, MG; Murgia, A; Pellegrin, S; Polli, R; Posmyk, R; Rzońca-Niewczas, S; Stanzial, F; Torella, A; Verrillo, L	1
Acar Arslan, E; Akkoyunlu Sünnetçi, D; Aksoy, A; Aksu Uzunhan, T; Atasoy, E; Ayanoğlu, M; Ayaz, A; Aydin, K; Aykol, D; Besen, Ş; Biçer, D; Bursali, A; Çağlar, E; Cansu, A; Cine, N; Deniz, A; Didinmez, E; Dilber, C; Dokurel Çetin, İ; Edem, P; Eldes Hacifazlioglu, N; Erol, İ; Ersoy Kosvali, Ö; Ertürk, B; Gençpinar, P; Gezdirici, A; Gezici Tekin, H; Gök, A; Gül Mert, G; Günay, Ç; Güngör, S; Hanci, YS; Hiz Kurul, S; Kanmaz, S; Kara, B; Karadağ, M; Karakülah, G; Karal, Y; Kiliç, B; Kirik, S; Kusgoz, F; Oktay, Y; Okuyaz, Ç; Ölçülü, CB; Olgaç Dündar, N; Ölmez, A; Özer, T; Ozgor, B; Özgün, N; Özsoy, Ö; Öztürk, G; Polat, M; Şahinoğlu, B; Sanri, A; Sarikaya Uzan, G; Sezer, A; Sönmezler, E; Soydemir, D; Tekgül, H; Tekin Orgun, L; Topçu, Y; Toprak, Ü; Tosun, A; Turay, S; Ülker Üstebay, D; Ünalp, A; Uyur Yalçin, E; Yaramiş, A; Yeşilmen, MC; Yildiz, N; Yilmaz, Ö; Yilmaz, S; Yilmaz, Ü; Yiş, U; Yüksel, D	1
Azzarà, A; Cassano, I; Facchiano, A; Galasso, C; Gurrieri, F; Lintas, C; Tabolacci, C	1
de Vries, BBA; Devilee, L; Frega, M; Gabriele, M; Hommersom, M; Klein Gunnewiek, TM; Koolen, DA; Lewerissa, EI; Linda, K; Nadif Kasri, N; Oudakker, A; Schoenmaker, C; Schubert, D; Testa, G; Ulferts, E; van Bokhoven, H; Verboven, AHA	1
Benevento, M; Dubos, A; Feil, R; Habibi, E; Herault, Y; Iacono, G; Kasri, NN; Kleefstra, T; Mandoli, A; Méziane, H; Riet, F; Selloum, M; Stunnenberg, HG; van Bokhoven, H; Zhou, H	1
Afenjar, A; Bienvenu, T; Billuart, P; Giurgea, I; Goldenberg, A; Hamroune, J; Lebrun, N; Mietton, L; Saintpierre, B	1
Canateli, C; da Costa, SS; de Oliveira, JF; de Oliveira, PSL; do Prado, PFV; Franchini, KG; Klevit, RE; Krepischi, ACV; Maschietto, M; Otto, PA; Ranzani, AT; Rosenberg, C; Sforça, ML	1
Jaffrey, SR; Jiang, X; Xu, G	1
Barco, A; Lopez-Atalaya, JP; Parkel, S	1
Agarwal, S; Badeaux, AI; Brookes, E; Chen, C; Egan, B; Gu, L; Ito, H; Iwase, S; Kasza, T; Kwan, KY; Lin, G; Sartor, MA; Shi, Y; Thompson, A; Tomassy, GS; Vallianatos, CN; Xu, J	1
Ajeawung, NF; Almannai, M; Baskin, B; Bi, W; Campeau, PM; Camurri, MV; Canham, N; Cho, MT; Fu, H; Gardham, A; Kiss, C; Lehman, A; Li, L; Littlejohn, RO; MacKenzie, JJ; McKinnon, M; Nguyen, TTM; Panis, B; Parker, MJ; Potjer, TP; Potocki, L; Robak, L; Roeder, ER; Rosenfeld, JA; Rousseau, J; Ruivenkamp, C; Sacoto, MJG; Santen, GWE; Scaglia, F; Stegmann, APA; Stumpel, CTR; Xia, F; Yan, K; Yang, XJ	1
Greengard, P; Schaefer, A; Tarakhovsky, A	1
Appleton, D; Coman, D; Jaeken, J; Klingberg, S; MacDonald, R; McGill, J; Morris, D	1
Hasegawa, Y; Kimura, M; Komai, K; Samuraki, M; Terada, N; Yamada, M; Yamaguchi, S	1
Binnington, VI; Ghadimi, H; Zischka, R	1
Armstrong, MD; Robinow, M	1
Ball, NA; Cook, NJ; Smythe, PJ; Veall, RM; Walker, V; Whiteman, P	1
Corstiaensen, JB; Sengers, RC; Trijbels, JM	1
Ampola, MG; Dancis, J; Hutzler, J; Kirby, LT; Shih, VE; van Gelderen, HH; Woody, NC	1
Brown, RR; Fischer, MH	1
Fukuda, S; Kimura, M; Mori, H	1
Hill, R; Ryan, ED; Spate, M; Whelan, DT	1
Tada, K	1
Nakao, T; Oyanagi, K; Sogawa, H	1
Jarosch, E; Plöchl, E	1
Fujita, T; Kobayashi, T; Tsukagoshi, H; Ueno, E; Yanagisawa, N	1
Nakao, T; Orii, T; Oyanagi, K; Sato, S; Sogawa, H	1
berger, H; jarosch, E; Ludescher, E	1
Eskelin, LE; Perheentupa, J; Rapola, J; Simell, O; Visakorpi, JK	1
Gates, SC; Higgins, JV; Wilson, CM; Wilson, RW	1
al Awadi, SA; Bastaki, L; el Khalifa, MY; Farag, TI; Kasrawi, B; Marafie, MJ; Sam, T; Wahba, RA; Yadav, G	1
Fluharty, AL; Kihara, H; Porter, MT; Valente, M	1
Aronson, BE; Aronson, SM	1
Holmgren, G	1
Coffey, VP; Martin, MC; Moore, PT	1
Aula, P; Johansson, T; Simell, O	1
Bicknell, J; Cavanagh, NP; Howard, F	1
Fischer, MH; Gerritsen, T; Opitz, JM	1
Woody, NC	1
Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M	1
Bovier-Lapierre, M	1
Oldendorf, WH	1
Bartsocas, CS; Erbe, RW	1
Homolka, J; Hyánek, J	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
Higgins, JV; Kohrman, AF; Scott-Emuakpor, A	1
Kekomäki, M; Norio, R; Perheentupa, J; Visakorpi, JK	1
Alpers, DH; Bartoscas, CS; Bixby, EM; Shih, VE; Thier, SO	1
Miura, R; Oyanagi, K; Yamanouchi, T	1
Bunting, R; Diamond, S; Hansen, S; Perry, TL; Tischler, B; Weppler, VC	1
Jagenburg, R; Lindstedt, G; Malmquist, J	1
Guazzi, GC; Martin, JJ; Van Bogaert, L	1
Abdelnour, GM; Gatfield, PD; Haust, MD; Hinton, GG; Taller, E; Wallace, AC	1
Connelly, JF; Hocking, B; Hopkins, IJ; Maddison, TG	1
Efron, ML; Moser, HW; Shih, VE	1
Bartsocas, CS; Crawford, JD; Levy, HL; Thier, SO	1
Binnington, VI; Ghadimi, H; Pecora, P	1
Leygues, R; Mises, R	1

Reviews

4 review(s) available for lysine and Intellectual Disability

Article	Year
Genes, 2022, 03-15, Volume: 13, Issue:3 Topics: Abnormalities, Multiple; Animals; Epigenesis, Genetic; Humans; Intellectual Disability; Lysine; Phenotype	2022
Histone H3 lysine methylation in cognition and intellectual disability disorders. Learning & memory (Cold Spring Harbor, N.Y.), 2013, Sep-17, Volume: 20, Issue:10 Topics: Animals; Cognition Disorders; Epigenesis, Genetic; Histones; Humans; Intellectual Disability; Lysine; Methylation; Protein Processing, Post-Translational	2013
Epigenetic mechanisms of mental retardation. Progress in drug research. Fortschritte der Arzneimittelforschung. Progres des recherches pharmaceutiques, 2011, Volume: 67 Topics: Acetylation; DNA Methylation; Epigenesis, Genetic; Histones; Humans; Intellectual Disability; Lysine; Methylation; Phosphorylation	2011
[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

Other Studies

60 other study(ies) available for lysine and Intellectual Disability

Article	Year
Lysine acetylome profiling in mouse hippocampus and its alterations upon FMRP deficiency linked to abnormal energy metabolism. Journal of proteomics, 2022, 10-30, Volume: 269 Topics: Adenosine Triphosphate; Animals; Autism Spectrum Disorder; Carboxylic Acids; Chromatography, Liquid; Citrates; Disease Models, Animal; Energy Metabolism; Fragile X Mental Retardation Protein; Fragile X Syndrome; Hippocampus; Intellectual Disability; Lactates; Lysine; Mice; Mice, Knockout; Proteomics; Tandem Mass Spectrometry	2022
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants. European journal of human genetics : EJHG, 2023, Volume: 31, Issue:2 Topics: Chromatin; Female; Frameshift Mutation; Histone Demethylases; Humans; Intellectual Disability; Lysine; Male; Mutation	2023
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study. Neuropediatrics, 2023, Volume: 54, Issue:4 Topics: Genetic Testing; Humans; Intellectual Disability; Ion Channels; Lysine; Tobacco Use Disorder	2023
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability. Genes, 2023, 06-27, Volume: 14, Issue:7 Topics: Brain Diseases; Calcium-Calmodulin-Dependent Protein Kinase Type 2; Female; Humans; Intellectual Disability; Lysine; Neurodevelopmental Disorders; Protein Serine-Threonine Kinases	2023
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders. Autophagy, 2022, Volume: 18, Issue:2 Topics: Abnormalities, Multiple; Autophagosomes; Autophagy; Chromosome Deletion; Chromosomes, Human, Pair 17; Epigenesis, Genetic; Humans; Intellectual Disability; Lysine; Lysosomes; Reactive Oxygen Species; Sirolimus; Superoxide Dismutase-1; TOR Serine-Threonine Kinases	2022
Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome. Nucleic acids research, 2018, 06-01, Volume: 46, Issue:10 Topics: Animals; Animals, Newborn; Cadherins; Chromosome Deletion; Chromosomes, Human, Pair 9; Cognitive Dysfunction; Craniofacial Abnormalities; Disease Models, Animal; Gene Expression Regulation; Heart Defects, Congenital; Hippocampus; Histone-Lysine N-Methyltransferase; Histones; Intellectual Disability; Lysine; Male; Methylation; Mice, Knockout	2018
RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome. Neuromolecular medicine, 2018, Volume: 20, Issue:3 Topics: Adolescent; Adult; Child; Female; Fibroblasts; Gene Expression Regulation; Histone-Lysine N-Methyltransferase; Histones; Humans; Hypertrichosis; Intellectual Disability; Loss of Function Mutation; Lysine; Male; Methylation; Middle Aged; Myeloid-Lymphoid Leukemia Protein; Nitric Oxide Synthase Type III; Rare Diseases; Sequence Analysis, RNA; Signal Transduction; Syndrome; Transcription, Genetic; Young Adult	2018
Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability. Nature chemical biology, 2019, Volume: 15, Issue:1 Topics: Adult; Catalytic Domain; Crystallography, X-Ray; Female; Humans; Hydrogen-Ion Concentration; Intellectual Disability; Lysine; Magnetic Resonance Spectroscopy; Male; Mutation, Missense; Proliferating Cell Nuclear Antigen; Ubiquitin; Ubiquitin-Conjugating Enzymes; Ubiquitination	2019
A mental retardation-linked nonsense mutation in cereblon is rescued by proteasome inhibition. The Journal of biological chemistry, 2013, Oct-11, Volume: 288, Issue:41 Topics: Adaptor Proteins, Signal Transducing; Boronic Acids; Bortezomib; Codon, Nonsense; HEK293 Cells; Humans; Immunoblotting; Intellectual Disability; Lysine; Microscopy, Fluorescence; Mutant Proteins; Nuclear Proteins; Peptide Hydrolases; Proteasome Endopeptidase Complex; Proteasome Inhibitors; Proteolysis; Pyrazines; Ubiquitin-Protein Ligases; Ubiquitination	2013
A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation. Cell reports, 2016, Feb-09, Volume: 14, Issue:5 Topics: Aggression; Animals; Brain; CpG Islands; Dendritic Spines; Disease Models, Animal; Gene Expression Regulation; Genes, X-Linked; Histone Demethylases; Histones; Intellectual Disability; Lysine; Memory; Methylation; Mice, Knockout; Oxidoreductases, N-Demethylating; Promoter Regions, Genetic; Social Behavior; Transcription, Genetic	2016
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. American journal of human genetics, 2017, Jan-05, Volume: 100, Issue:1 Topics: Acetylation; Adaptor Proteins, Signal Transducing; Adolescent; Alleles; Animals; Carrier Proteins; Child; Chromatin; Developmental Disabilities; DNA-Binding Proteins; Face; Female; Histone Acetyltransferases; Histones; Humans; Intellectual Disability; Lysine; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Muscle Hypotonia; Mutation; Nuclear Proteins; Syndrome	2017
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
A successfully treated adult patient with L-2-hydroxyglutaric aciduria. Neurology, 2008, Mar-25, Volume: 70, Issue:13 Topics: Adult; Age Factors; Alcohol Oxidoreductases; Brain; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Carnitine; Chromosomes, Human, Pair 14; Female; Flavin-Adenine Dinucleotide; Genetic Markers; Genetic Predisposition to Disease; Homozygote; Humans; Intellectual Disability; Lysine; Magnetic Resonance Imaging; Movement Disorders; Treatment Outcome	2008
Further studies on hyperlysinemia associated with retardation. American journal of diseases of children (1960), 1967, Volume: 113, Issue:1 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Animals; Blood Chemical Analysis; Child, Preschool; Chromatography; Growth; Humans; Intellectual Disability; Lysine; Male; Radionuclide Imaging	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
Urinary screening for abnormalities of amino acid or mucopolysaccharide metabolism in patients in a hospital for the mentally handicapped in Wessex. Journal of mental deficiency research, 1983, Volume: 27 (Pt 2) Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystinuria; Electrophoresis, Cellulose Acetate; England; Female; Glycine; Glycosaminoglycans; Humans; Intellectual Disability; Lysine; Male; Middle Aged; Phenylketonurias	1983
[A patient with persistent hyperlysinemia]. Tijdschrift voor kindergeneeskunde, 1983, Volume: 51, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Intellectual Disability; Lysine; Male; Muscle Hypertonia	1983
The prognosis of hyperlysinemia: an interim report. American journal of human genetics, 1983, Volume: 35, Issue:3 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Intellectual Disability; Lysine; Male; Oxidoreductases Acting on CH-NH Group Donors; Pregnancy; Prognosis; Saccharopine Dehydrogenases	1983
Tryptophan and lysine metabolism in alpha-aminoadipic aciduria. American journal of medical genetics, 1980, Volume: 5, Issue:1 Topics: 2-Aminoadipic Acid; Amino Acids, Dicarboxylic; Child; Humans; Intellectual Disability; Lysine; Male; Metabolism, Inborn Errors; Tryptophan	1980
[A case of lysinuric protein intolerance with mental-physical retardation, intermittent stupor and hemiparesis (author's transl)]. Rinsho shinkeigaku = Clinical neurology, 1982, Volume: 22, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Growth Disorders; Hemiplegia; Humans; Intellectual Disability; Lysine; Male; Recurrence; Unconsciousness	1982
L-Glutaric acidemia: investigation of a patient and his family. Pediatrics, 1979, Volume: 63, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Consanguinity; Dystonia; Glutarates; Humans; Infant; Intellectual Disability; Lysine; Male; Oxidoreductases; Pedigree	1979
[lysine malabsorption syndrome]. Nihon rinsho. Japanese journal of clinical medicine, 1977,Spring, Volume: 35 Suppl 1 Topics: Female; Humans; Infant; Intellectual Disability; Intestinal Absorption; Lysine; Syndrome	1977
Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities. Pediatric research, 1977, Volume: 11, Issue:9 Pt 1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Argininosuccinate Synthase; Citrulline; Humans; Hyperargininemia; Intellectual Disability; Ligases; Liver; Lysine; Male	1977
[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
[Familial hyperlysinemia with mental retardation, convulsion & muscular hypertonia (author's transl)]. Rinsho shinkeigaku = Clinical neurology, 1977, Volume: 17, Issue:9 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Humans; Intellectual Disability; Lysine; Male; Muscle Tonus; Seizures	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
[Disturbance of the Histidine Reabsorption of the Renal Tubes in Patient with Cystine Lysinuria in Conjunction with Severe Cerebral Damage (author's transl)]. Padiatrie und Padologie, 1975, Volume: 10, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Brain Damage, Chronic; Child; Cystinuria; Histidine; Humans; Intellectual Disability; Kidney Tubules; Levodopa; Lysine; Male; Parkinson Disease	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
Alpha-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation. Pediatric research, 1975, Volume: 9, Issue:6 Topics: Adipates; Adolescent; Amino Acid Metabolism, Inborn Errors; Humans; Intellectual Disability; Keto Acids; Lysine; Male; Tryptophan	1975
Aminoacidopathies among institutionalised mentally retarded in Kuwait. Clinical genetics, 1992, Volume: 42, Issue:4 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Cystathionine; Female; Homocystinuria; Humans; Intellectual Disability; Kuwait; Lysine; Male; Phenylketonurias	1992
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
Clinical neuropathological conference. Diseases of the nervous system, 1969, Volume: 30, Issue:5 Topics: Abnormalities, Multiple; Adult; Anuria; Arrhythmias, Cardiac; Biopsy; Blood Glucose; Esophageal Diseases; gamma-Globulins; Heart Conduction System; Humans; Hyperostosis Frontalis Interna; Hypothyroidism; Insulin; Insulin Secretion; Intellectual Disability; Intestinal Absorption; Lysine; Male; Malocclusion; Myotonic Dystrophy; Paranasal Sinuses; Pharyngeal Diseases; Pneumonia, Aspiration; Temporomandibular Joint; Testis; Xylose	1969
Urinary metabolic screening of mentally retarded patients from institutions in the northern part of Sweden. Human heredity, 1973, Volume: 23, Issue:6 Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acids; Child; Eye Diseases; Female; Glycine; Glycosaminoglycans; Histidine; Homocystinuria; Humans; Intellectual Disability; Lysine; Male; Mass Screening; Phenylketonurias; Renal Aminoacidurias; Sweden; Syndrome	1973
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
Enzyme defect in saccharopinuria. The Journal of pediatrics, 1973, Volume: 82, Issue:1 Topics: Adipates; Amines; Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Child, Preschool; Female; Fibroblasts; Glutarates; Humans; Intellectual Disability; Lysine; Muscles; NADH, NADPH Oxidoreductases; Oxidoreductases; Paralysis	1973
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
Alpha-aminoadipic aciduria, a non-deleterious inborn metabolic defect. Humangenetik, 1974, Volume: 24, Issue:4 Topics: Adipates; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Dicarboxylic; Child; Female; Foot Deformities, Congenital; Humans; Intellectual Disability; Lysine; Male; Pedigree; Phenotype; Tuberous Sclerosis	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
Amino acid abnormality in Sjögren-Larsson syndrome. Archives of neurology, 1973, Volume: 28, Issue:3 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dental Enamel Hypoplasia; Epilepsy; Ethylamines; Glutamine; Glycine; Histidine; Humans; Ichthyosis; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Muscle Spasticity; Retinal Degeneration; Serine; Syndrome; Valine	1973
[Saccharopinuria]. Pediatrie, 1973, Volume: 28, Issue:4 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Intellectual Disability; Lysine	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
Lowe's syndrome. Absence of amino acid transport defect in cultured fibroblasts. Acta paediatrica Scandinavica, 1973, Volume: 62, Issue:6 Topics: Ammonia; Biological Transport; Carbon Radioisotopes; Culture Techniques; Eye Diseases; Fibroblasts; Glycine; Growth Disorders; Humans; Intellectual Disability; Intestinal Absorption; Kidney Diseases; Lysine; Renal Aminoacidurias; Syndrome	1973
The results of chromatographic screening for the detection of inborn metabolic errors in normal and mentally retarded population. Acta Universitatis Carolinae. Medica. Monographia, 1973, Volume: 56 Topics: Adolescent; Adult; Amino Acids, Sulfur; Child; Child, Preschool; Chromatography; Cystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Intelligence Tests; Lysine; Metabolism, Inborn Errors; Phenylketonurias	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
Citrullinemia: a new case, with implications concerning adaptation to defective urea synthesis. Pediatric research, 1972, Volume: 6, Issue:7 Topics: Adult; Amino Acids; Ammonia; Citrulline; Dietary Proteins; Fibroblasts; Humans; Intellectual Disability; Ligases; Lysine; Male; Metabolism, Inborn Errors; Urea	1972
Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families. Clinical genetics, 1971, Volume: 2, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Height; Consanguinity; Female; Finland; Genes, Recessive; Growth Disorders; Hepatomegaly; Heterozygote; Humans; Intellectual Disability; Lysine; Male; Pedigree; Proteins; Sex Factors; Urea	1971
Studies of intestinal transport defect in Hartnup disease. Gastroenterology, 1971, Volume: 61, Issue:4 Topics: Adolescent; Biological Transport; Carbon Isotopes; Child; Culture Techniques; Feces; Genes, Recessive; Hartnup Disease; Humans; Intellectual Disability; Intestinal Mucosa; Jejunum; Leucine; Lysine; Male; Methionine; Phenylalanine; Proline; Tryptophan	1971
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
Unrecognized maternal biochemical disease: an uncommon cause of mental retardation in children. Journal of mental deficiency research, 1970, Volume: 14, Issue:1 Topics: Child; Cystinuria; Female; Glycine; Humans; Infant, Newborn; Intellectual Disability; Lysine; Metabolic Diseases; Phenylalanine; Phenylketonurias; Pregnancy; Proline; Tyrosine	1970
Familial protein intolerance. Possible nature of enzyme defect. The New England journal of medicine, 1971, May-06, Volume: 284, Issue:18 Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Atrophy; Biological Transport; Blood Cell Count; Blood Glucose; Blood Urea Nitrogen; Bone Diseases; Brain Diseases; Dietary Proteins; Female; Glutaminase; Glutamine; Hemoglobins; Humans; Intellectual Disability; Kidney; Kidney Function Tests; Lysine; Metabolism, Inborn Errors; Nitrogen; Proteins; Specific Gravity; Urea; Urine	1971
[Cerebral findings in aminoaciduria]. Confinia neurologica, 1968, Volume: 30, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Brain Stem; Cataract; Cerebellum; Cystinuria; Dwarfism; Humans; Infant; Infant, Newborn; Intellectual Disability; Lysine; Maple Syrup Urine Disease; Rickets	1968
Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study. Canadian Medical Association journal, 1968, Dec-28, Volume: 99, Issue:25 Topics: Amino Acids; Brain Chemistry; Central Nervous System Diseases; Cerebellum; Demyelinating Diseases; Diet Therapy; Digestive System; Hepatomegaly; Humans; Infant; Intellectual Disability; Kidney; Liver; Lysine; Male; Medulla Oblongata; Metabolic Diseases; Organ Size; Pipecolic Acids; Pons	1968
Neurological abnormalities in primary hyperammonaemia. Proceedings of the Australian Association of Neurologists, 1968, Volume: 5, Issue:1 Topics: Ammonia; Diet Therapy; Dietary Proteins; Female; Humans; Infant; Intellectual Disability; Lysine; Metabolism, Inborn Errors; Nervous System Diseases; Urea	1968
Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation. American journal of diseases of children (1960), 1969, Volume: 117, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Ataxia; Child, Preschool; Citrulline; Diet Therapy; Humans; Intellectual Disability; Lysine; Male; Myoclonus; Ornithine; Ornithine Carbamoyltransferase; Seizures	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
Hyperlysinemia associated with retardation. The New England journal of medicine, 1965, Sep-30, Volume: 273, Issue:14 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Blood; Cerebrospinal Fluid; Child, Preschool; Humans; Intellectual Disability; Lysine; Urine	1965
[Trials of an L-glutamine combination in the mentally deficient]. Clinique (Paris, France), 1965, Volume: 60, Issue:613 Topics: Adolescent; Child; Female; Glutamine; Humans; Hydroxocobalamin; Intellectual Disability; Lysine	1965