histidine has been researched along with Deficiency, Mental in 74 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 64 (86.49) | 18.7374 |
1990's | 3 (4.05) | 18.2507 |
2000's | 3 (4.05) | 29.6817 |
2010's | 4 (5.41) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Garza-Lopez, E; Hagen, J; Lee, A; Lopez, JA; Meiner, V; Sheffer, R | 1 |
Hurst, A; Lose, E; Mikhail, FM; Philips, JB; Stoops, C; Woodfin, T | 1 |
Basel-Vanagaite, L; Dahary, D; Halevy, A; Har-Zahav, A; Haviv, A; Hellman-Aharony, S; Maya, I; Pasmanik-Chor, M; Shohat, M; Smirin-Yosef, P; Straussberg, R; Yeheskel, A | 1 |
Fuchs, O; Pfarr, N; Pohlenz, J; Schmidt, H | 1 |
Artuch, R; Espinós, C; Lupo, V; Martínez-Rubio, D; Ormazabal, A; Palau, F; Pineda, M; Spaapen, LJ; Vilaseca, MA | 1 |
Annesi, G; Bruno, E; Cavalcanti, F; Dibilio, V; Gagliardi, M; Gambardella, A; Mostile, G; Nicoletti, A; Quattrone, A; Tarantino, P; Zappia, M | 1 |
AUERBACH, VH; BALDRIDGE, RC; BRIGHAM, MP; DIGEORGE, AM; TOURTELLOTTE, CD | 1 |
FREYCON, MT | 1 |
BERLOW, S; KIES, MW; MYRON, P; SNYDER, SH | 1 |
LA DU, BN; ZANNONI, VG | 1 |
DAVIES, HE; ROBINSON, MJ | 1 |
CANBY, JP; HOWELL, RR; JACOBY, GA; LADU, BN; SEEGMILLER, JE; SOBER, EK; ZANNONI, VG; ZIEGLER, LK | 1 |
COFFEY, VP | 1 |
GIOVANNINI, M; TERZOLI, S | 2 |
EFRON, ML; MACCREADY, RA; MOSER, HW; YOUNG, D | 1 |
AUERBACH, VH; BALDRIDGE, RC | 1 |
HOLTON, JB; LEWIS, FJ; MOORE, GR | 1 |
HOLTON, JB | 1 |
ARENDS, R; BERLOW, S; HARRIES, C | 1 |
AUERBACH, VH; DIGEORGE, AM | 1 |
HOWELL, RR; JACOBY, GA; LA DU, BN; SEEGMILLER, JE; ZANNONI, VG | 1 |
Appleton, D; Coman, D; Jaeken, J; Klingberg, S; MacDonald, R; McGill, J; Morris, D | 1 |
Waisman, HA | 2 |
Ghadimi, H; Partington, MW | 1 |
Erbe, RW; Wang, JC | 1 |
Bacchus, B; Dyme, IZ; Horwitz, SJ; Kerr, DS | 1 |
Nikolaeva, EA | 1 |
Aoki, K; Arashima, S; Kawamura, M; Kitagawa, T; Kuroda, Y; Matsuda, I; Naruse, H; Oura, T; Sakai, K; Suwa, S; Tada, K; Takesada, M; Tateda, H; Yamashita, F | 1 |
Knoll, E; Scheibenreiter, S; Schön, R; Thalhammer, O; Wehle, E | 1 |
de Bree, PK; Duran, M; Ketting, D; Penders, TJ; van Sprang, FJ; Wadman, SK; Wilms, RH | 1 |
Byrd, D; Olek, K; Wardenbach, P | 1 |
Ai, LS; Hsieh, M; Li, C; Lin, CH | 1 |
Enzenauer, J; Matz, D; Menne, F | 1 |
Menne, F | 2 |
Brown, ES; Geison, RL; Gerritsen, T; Waisman, HA | 1 |
Brandt, NJ | 1 |
berger, H; jarosch, E; Ludescher, E | 1 |
Stern, J | 1 |
Ferré, C; Maya, A; Puliol, M; Sabater, J | 1 |
Hilton, S; Nyhan, WL | 1 |
Bardet, J; de Blois, MC; Kamoun, P; Lejeune, J; Parvy, P; Peeters, M; Rabier, D; Rethoré, MO | 1 |
Clow, CL; Grove, J; Popkin, JS; Scriver, CR | 1 |
Arakawa, T | 1 |
Bakwin, H | 1 |
Holmgren, G | 1 |
Levy, HL; Madigan, PM; Shih, VE | 1 |
Bulfield, G; Kacser, H | 1 |
Arakawa, T; Honda, Y; Yoshida, T | 1 |
Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M | 1 |
Lilly, PM; Neville, GR | 1 |
Harrod, EK; Housler, ME; Lindmark, DG; Mosovich, L; Murphey, WH; Patchen, LI | 1 |
Arakawa, T; Hirono, H; Honda, Y; Narisawa, K; Yoshida, T | 1 |
Oldendorf, WH | 1 |
Gardner, RJ; Lyon, IC; Veale, AM | 1 |
Bentovim, A; Clayton, BE; Neville, BG; Shepherd, J | 1 |
Bischoff, S; Lampart, C; Pollard, H; Rehault, MC; Rose, C; Schwartz, JC | 1 |
Arakawa, T; Honda, Y; Tada, K; Yoshida, T | 1 |
Griffiths, MI | 1 |
Garvey, AM; Gordon, N | 1 |
Kibel, MA; Levy, HL | 1 |
Levy, HL; Lott, IT; Wheelden, JA | 1 |
McKean, CM; Peterson, NA | 1 |
Giovannini, M | 1 |
Corner, BD; Holton, JB; Norman, RM; Williams, PM | 1 |
Gerber, DA; Gerber, MG | 1 |
Holton, JB; Seakins, JW | 1 |
Harris, JA; Snyder, CH; Woody, NC | 1 |
Bowman, JK; Clarance, GA | 1 |
de Bree, PK; van Sprang, FJ; van Stekelenburg, GJ; Wadman, SK | 1 |
4 review(s) available for histidine and Deficiency, Mental
Article | Year |
---|---|
[Histidenemia (a review of the literature)].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Animals; Child; Child, Preschool; Female; Formiminoglutamic Acid; Histidine; Histidine Ammonia-Lyase; Humans; Infant; Infant, Newborn; Intellectual Disability; Mass Screening; Polymorphism, Genetic; Pregnancy; Speech Disorders; Urocanic Acid | 1980 |
Congenital and acquired disturbances of histidine metabolism.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Biopsy; Carbon Radioisotopes; Child; Child, Preschool; Diet Therapy; Female; FIGLU Test; Histidine; Histidine Ammonia-Lyase; Humans; Infant, Newborn; Intellectual Disability; Liver; Male; Phenytoin; Rats; Seizures; Skin; Speech Disorders; Transferases; Urocanate Hydratase; Vitamin B 12 | 1974 |
Delayed speech. Developmental mutism.
Topics: Autistic Disorder; Brain Damage, Chronic; Child, Preschool; Developmental Disabilities; Diagnosis, Differential; Diseases in Twins; Emotions; Hearing Disorders; Histidine; Humans; Intellectual Disability; Mutism; Parent-Child Relations; Schizophrenia, Childhood; Speech Disorders; Verbal Behavior | 1968 |
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
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 |
70 other study(ies) available for histidine and Deficiency, Mental
Article | Year |
---|---|
Role of a conserved glutamine in the function of voltage-gated Ca
Topics: Amino Acid Sequence; Calcium Channels, L-Type; Calcium Signaling; Conserved Sequence; Exome Sequencing; Glutamine; Glycine; Hearing Loss; Histidine; Humans; Intellectual Disability; Ion Channel Gating; Mutation; Sequence Homology, Amino Acid; Synaptic Transmission | 2018 |
Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).
Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosomes, Human, Pair 17; Comparative Genomic Hybridization; Copper-Transporting ATPases; DNA Mutational Analysis; Fatal Outcome; Genetic Testing; Histidine; Humans; Hypertension, Pulmonary; Infant, Newborn; Intellectual Disability; Male; Medical History Taking; Menkes Kinky Hair Syndrome; Mutation; Nitric Oxide; Organometallic Compounds; Pedigree; Respiratory Insufficiency | 2019 |
Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.
Topics: Chromosomes, Human, Pair 8; Computational Biology; Corpus Callosum; DNA Mutational Analysis; Family Health; Female; Histidine; Humans; Infant; Intellectual Disability; Magnetic Resonance Imaging; Male; Microcephaly; Mutation; Proline; TATA-Binding Protein Associated Factors; Transcription Factor TFIID | 2013 |
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation.
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 |
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Ataxia; Biomarkers; Child; Computer Simulation; Female; Folic Acid; Histidine; Humans; Intellectual Disability; Models, Molecular; Molecular Sequence Data; Mutation; Sequence Alignment; Urocanate Hydratase; Urocanic Acid | 2009 |
Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.
Topics: Adult; Arginine; Female; Heat-Shock Proteins; Histidine; Humans; Intellectual Disability; Italy; Muscle Spasticity; Mutation, Missense; Optic Atrophy; Sicily; Spinocerebellar Ataxias | 2013 |
Histidinemia. A deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acid.
Topics: Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Histidine; Histidine Ammonia-Lyase; Humans; Imidazoles; Intellectual Disability; Pyruvates | 1962 |
[Histidinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Metabolic Diseases | 1962 |
Metabolism of 2-C14 labeled L-histidine in histidinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Puberty; Puberty, Precocious; Sexual Maturation | 1963 |
Determination of histidine alpha-deaminase in human stratum corneum and its absence in histidinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Epidermis; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Lyases; Metabolic Diseases; Skin | 1963 |
A case of histidinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Dwarfism; Histidine; Histidine Ammonia-Lyase; Humans; Infections; Intellectual Disability | 1963 |
CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Chemical Analysis; Child; Deficiency Diseases; Diagnosis, Differential; Genetics; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Liver; Metabolic Diseases; Phenylketonurias; Spectrophotometry; Speech Disorders; Urine | 1963 |
MENTAL RETARDATION AND THE INBORN ERRORS OF METABOLISM.
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 |
[CONSIDERATIONS ON A CASE OF MENTAL DEFICIENCY WITH ABNORMALITIES OF HISTIDINE METABOLISM].
Topics: Child; Histidine; Humans; Intellectual Disability; Language; Metabolic Diseases; Proteins; Speech Disorders | 1964 |
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Chromatography; Citrulline; Glycine; Histidine; Homocysteine; Humans; Hydroxyproline; Intellectual Disability; Maple Syrup Urine Disease; Metabolic Diseases; Phenylketonurias; Proline; Proteins; Renal Aminoacidurias; Urine | 1964 |
THE METABOLISM OF HISTIDINE. VI. HISTIDINEMIA AND IMIDAZOLEPYRUVIC ACIDURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Blood; Child; Chromatography; Histidine; Histidine Ammonia-Lyase; Humans; Imidazoles; Intellectual Disability; Lyases; Phenylhydrazines; Pyruvates; Ultraviolet Rays; Urine | 1964 |
[CONSIDERATIONS ON A CASE OF MENTAL DEBILITY WITH ALTERATIONS OF HISTIDINE METABOLISM].
Topics: Amino Acid Metabolism, Inborn Errors; Blood; Body Fluids; Child; Chromatography; Histidine; Humans; Intellectual Disability; Speech Disorders; Urine | 1964 |
BIOCHEMICAL INVESTIGATION OF HISTIDINAEMIA.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Child; Chromatography; Clinical Laboratory Techniques; Electrophoresis; FIGLU Test; Genetics, Medical; Histidine; Histidine Ammonia-Lyase; Humans; Infant; Infections; Intellectual Disability; Seizures; Skin; Urine | 1964 |
SKIN L-HISTIDINE AMMONIA-LYASE ACTIVITY IN THE FAMILY OF A CHILD WITH HISTIDINAEMIA.
Topics: Amino Acid Metabolism, Inborn Errors; Chemistry Techniques, Analytical; Child; Clinical Enzyme Tests; Genetics, Medical; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Lyases; Metabolic Diseases; Skin | 1965 |
STUDIES IN HISTIDINEMIA.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Molecular Biology | 1965 |
HISTIDINEMIA.
Topics: Amino Acid Metabolism, Inborn Errors; Blood; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability | 1964 |
The enzymatic defect in histidinemia.
Topics: Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability | 1962 |
Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.
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 |
Some theoretical considerations in the treatment of homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Diet Therapy; Histidine; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; L-Serine Dehydratase; Liver; Methionine; Rats | 1967 |
Variations in clinical and laboratory findings in histidinemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diet Therapy; Female; Histidine; Humans; Imidazoles; Infant; Infant, Newborn; Intellectual Disability; Male; Speech Disorders | 1967 |
Salient features of histidinemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography; Female; Glutamates; Growth; Histidine; Humans; Infant; Intellectual Disability; Lyases; Male; Speech Disorders | 1967 |
Folate metabolism in humans.
Topics: Amino Acids; Cells, Cultured; Chemical Phenomena; Chemistry; Culture Media; Folic Acid; Folic Acid Deficiency; Fragile X Syndrome; Histidine; Homocysteine; Humans; Intellectual Disability; Lymphocytes; Sex Chromosome Aberrations; Tetrahydrofolates | 1984 |
Histidinemia. A case with resolution of myoclonic seizures after treatment with a low-histidine diet.
Topics: Amino Acid Metabolism, Inborn Errors; Histidine; Humans; Infant; Intellectual Disability; Language Development Disorders; Male; Myoclonus | 1983 |
Intellectual development in patients with untreated histidinemia. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Histidine; Humans; Intellectual Disability; Intelligence; Intelligence Tests; Japan; Male; Mass Screening; Risk | 1982 |
[12 years Austrian newborn screening for inborn errors of metabolism. Results with special reference to phenylketonuria, hyperphenylalaninemia and histidinemia (author's transl)].
Topics: Austria; Female; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Psychometrics | 1980 |
A case of formiminoglutamic aciduria. Clinical and biochemical studies.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Epilepsy; Folic Acid; Formiminoglutamic Acid; Glutarates; Histidine; Humans; Intellectual Disability; Male | 1981 |
[Excretion of transamination products in hyperphenylalaninemia (author's transl)].
Topics: Adult; Biogenic Amines; Female; Histidine; Humans; Intellectual Disability; Middle Aged; Phenylalanine; Phenylketonurias; Transaminases; Tryptophan | 1980 |
Arginine methylation of a glycine and arginine rich peptide derived from sequences of human FMRP and fibrillarin.
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 |
[Diagnosis and therapy of 6 hereditary, to mental-deficiency-leading, metabolic disorders. 2].
Topics: Acute Disease; Diagnosis, Differential; Galactose; Galactosemias; Germany, West; Histidine; Homocystine; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Methionine; Phosphotransferases | 1976 |
[Screening and therapy of 6 metabolic diseases of hereditary nature which are possible causes of mental retardation: screening of 1,900,000 newborn infants since the year 1965].
Topics: Galactosemias; Germany, West; Histidine; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias | 1979 |
Sibship with histidinemia and an unrelated encephalopathy. Clinical and biochemical studies.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Brain Diseases; Child; Child, Preschool; Female; Heart Defects, Congenital; Histidine; Humans; Imidazoles; Infant; Infant, Newborn; Intellectual Disability; Male; Obesity | 1977 |
[Histidinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Diagnosis, Differential; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability | 1976 |
[Disturbance of the Histidine Reabsorption of the Renal Tubes in Patient with Cystine Lysinuria in Conjunction with Severe Cerebral Damage (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Brain Damage, Chronic; Child; Cystinuria; Histidine; Humans; Intellectual Disability; Kidney Tubules; Levodopa; Lysine; Male; Parkinson Disease | 1975 |
Biochemistry of mental retardation.
Topics: Aged; Citrulline; Female; Glycine; Histidine; Humans; Infant; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Phenylketonurias | 1975 |
Histidinuria: a renal and intestinal histidine transport deficiency found in two mentally retarded children.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Histidine; Humans; Intellectual Disability; Intestinal Absorption; Male; Renal Tubular Transport, Inborn Errors | 1976 |
Histidinuria: defective transport of histidine.
Topics: Child; Histidine; Humans; Hypoglycemia; Intellectual Disability; Intestinal Absorption; Malabsorption Syndromes; Male | 1992 |
[Cri-du-chat disease: plasma and urinary amino acids].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Asparagine; Aspartic Acid; Child; Child, Preschool; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosome Mapping; Chromosomes, Human, Pair 5; Cri-du-Chat Syndrome; Female; Histidine; Humans; Intellectual Disability; Male; Models, Biological; Purine-Pyrimidine Metabolism, Inborn Errors | 1990 |
Editorial: Histidinaemia: To treat or not to treat?
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Child, Preschool; Diet Therapy; Histidine; Histidine Ammonia-Lyase; Humans; Infant; Infant, Newborn; Intellectual Disability | 1974 |
Is hereditary histidinaemia harmful?
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Histidine; Homozygote; Humans; Infant, Newborn; Intellectual Disability; Mass Screening; Prospective Studies | 1974 |
Urinary metabolic screening of mentally retarded patients from institutions in the northern part of Sweden.
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 |
Routine newborn screening for histidinemia. Clinical and biochemical results.
Topics: Acrylates; Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child Development; Child, Preschool; Chromatography, Ion Exchange; Chromatography, Paper; Histidine; Histidine Ammonia-Lyase; Humans; Imidazoles; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Language Development; Massachusetts; Prospective Studies; Skin; Speech Disorders | 1974 |
Histidinaemia in mouse and man.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Chemistry; Chromosome Aberrations; Chromosome Disorders; Congenital Abnormalities; Disease Models, Animal; Female; Genes, Recessive; Histidine; Histidine Ammonia-Lyase; Homozygote; Humans; Intellectual Disability; Liver; Male; Mice; Movement Disorders; Mutation; Postural Balance; Vestibule, Labyrinth | 1974 |
Increase in serum folate following on oral histidine load.
Topics: Administration, Oral; Adolescent; Adult; Child; Female; FIGLU Test; Folic Acid; Formamides; Histidine; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Skin; Syphilis Serodiagnosis; Syphilis, Congenital; Transferases | 1972 |
Amino acid abnormality in Sjögren-Larsson syndrome.
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 |
Histidinaemia: its significance in neonatal screening.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Histidine; Humans; Infant; Intellectual Disability | 1973 |
Serum carnosinase deficiency concomitant with mental retardation.
Topics: Age Factors; Child; Child, Preschool; Chromatography; Dipeptidases; Dipeptides; Electrophoresis, Starch Gel; Female; Histidine; Humans; Intellectual Disability; Kidney; Liver; Male; Metabolism, Inborn Errors; Methylhistidines; Nervous System Diseases; Spleen; Tissue Extracts | 1973 |
Effect of diphenylhydantoin therapy on folate metabolism of mentally retarded epileptics.
Topics: Adolescent; Adult; Anticonvulsants; Azo Compounds; Child; Epilepsy; Female; FIGLU Test; Folic Acid; Glutarates; Histidine; Humans; Intellectual Disability; Male; Neutrophils; Phenytoin; Vitamin B 12 | 1973 |
Saturation of blood brain barrier transport of amino acids in phenylketonuria.
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 |
Maternal histidinaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Histidine; Humans; Intellectual Disability; Intelligence Tests; Male; Phenylketonurias; Pregnancy; Psychological Tests | 1974 |
Histidinaemia. Study of relation between clinical and biological findings in 7 subjects.
Topics: Acetates; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Autistic Disorder; Child; Child, Preschool; Female; Histidine; Humans; Imidazoles; Infant; Intellectual Disability; Lactates; Lyases; Male; Pyruvates; Skin; Speech Disorders | 1972 |
Histidinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Histidine; Humans; Intellectual Disability | 1972 |
Histamine formation in rat brain during development.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Brain; Carboxy-Lyases; Growth; Histamine; Histidine; Humans; Intellectual Disability; Rats; Tritium | 1971 |
Urocanic aciduria: a defect in the urocanase activity in the liver of a mentally retarded.
Topics: Acrylates; Administration, Oral; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Histidine; Humans; Hydro-Lyases; Imidazoles; Injections, Intravenous; Intellectual Disability; Liver; Lyases; Male; Oxidoreductases; Pneumoencephalography; Skin | 1971 |
Implications for clinical implementation of results of metabolic screening for amino acidopathies in the newborn.
Topics: Amino Acid Metabolism, Inborn Errors; Follow-Up Studies; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature, Diseases; Intellectual Disability; Mass Screening; Methionine; Proline | 1971 |
Histidinaemia and speech disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Histidine; Humans; Infant; Intellectual Disability; Language Development; Male; Speech Disorders | 1969 |
A further ase of histidinaemia: clinical and biochemical aspects.
Topics: Adolescent; Africa; Amino Acid Metabolism, Inborn Errors; Amino Acids; Electroencephalography; Female; Histidine; Humans; Intellectual Disability; Motor Activity; Skin; Speech Disorders | 1970 |
Speech and histidinemia: methodology and evaluation of four cases.
Topics: Affective Symptoms; Amino Acid Metabolism, Inborn Errors; Audiometry; Child; Child, Preschool; Female; Histidine; Humans; Intellectual Disability; Intelligence Tests; Language Disorders; Male; Psychometrics; Speech Disorders | 1970 |
Glutamine in the phenylketonuric central nervous system.
Topics: Adolescent; Adult; Amino Acids; Biological Transport, Active; Brain; Brain Chemistry; Child; Female; Glutamine; Histidine; Humans; Intellectual Disability; Intelligence Tests; Male; Middle Aged; Phenylketonurias; Serine; Threonine; Tyrosine | 1970 |
[Current views on therapy of some dysmetabolic oligophrenias].
Topics: Child, Preschool; Diet Therapy; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Intellectual Disability; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine | 1967 |
A case of histidinemia controlled with a low histidine diet.
Topics: Amino Acid Metabolism, Inborn Errors; Blindness; Brain; Brain Damage, Chronic; Brain Diseases; Chromatography, Ion Exchange; Deafness; Diet Therapy; Dietary Proteins; Electrophoresis; Growth; Histidine; Humans; Infant; Intellectual Disability; Male; Serotonin | 1968 |
A simple screening test for histidinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Chelating Agents; Child; Child, Preschool; Cyclohexanes; Histidine; Humans; Infant; Intellectual Disability; Mass Screening; Methods | 1969 |
Histidinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Histidine; Humans; Intellectual Disability; Lyases | 1969 |
Histidinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Chemical Analysis; Child; Child, Preschool; Consanguinity; Electroencephalography; Female; Histidine; Humans; Imidazoles; Intellectual Disability; Lyases; Male; Primidone; Pyruvates; Skin; Speech Disorders; Urine | 1965 |
Further case of histidinaemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Blood; Chromatography, Paper; Female; Histidine; Humans; In Vitro Techniques; Intellectual Disability; Lyases; Skin; Urine | 1966 |
Three new cases of Histidinemia. Clinical and biochemical data.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography; Chromatography, Paper; Diet; Female; Histidine; Humans; Intellectual Disability | 1966 |