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histidine and Deficiency, Mental

histidine has been researched along with Deficiency, Mental in 74 studies

Research

Studies (74)

TimeframeStudies, this research(%)All Research%
pre-199064 (86.49)18.7374
1990's3 (4.05)18.2507
2000's3 (4.05)29.6817
2010's4 (5.41)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Garza-Lopez, E; Hagen, J; Lee, A; Lopez, JA; Meiner, V; Sheffer, R1
Hurst, A; Lose, E; Mikhail, FM; Philips, JB; Stoops, C; Woodfin, T1
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, A1
Fuchs, O; Pfarr, N; Pohlenz, J; Schmidt, H1
Artuch, R; Espinós, C; Lupo, V; Martínez-Rubio, D; Ormazabal, A; Palau, F; Pineda, M; Spaapen, LJ; Vilaseca, MA1
Annesi, G; Bruno, E; Cavalcanti, F; Dibilio, V; Gagliardi, M; Gambardella, A; Mostile, G; Nicoletti, A; Quattrone, A; Tarantino, P; Zappia, M1
AUERBACH, VH; BALDRIDGE, RC; BRIGHAM, MP; DIGEORGE, AM; TOURTELLOTTE, CD1
FREYCON, MT1
BERLOW, S; KIES, MW; MYRON, P; SNYDER, SH1
LA DU, BN; ZANNONI, VG1
DAVIES, HE; ROBINSON, MJ1
CANBY, JP; HOWELL, RR; JACOBY, GA; LADU, BN; SEEGMILLER, JE; SOBER, EK; ZANNONI, VG; ZIEGLER, LK1
COFFEY, VP1
GIOVANNINI, M; TERZOLI, S2
EFRON, ML; MACCREADY, RA; MOSER, HW; YOUNG, D1
AUERBACH, VH; BALDRIDGE, RC1
HOLTON, JB; LEWIS, FJ; MOORE, GR1
HOLTON, JB1
ARENDS, R; BERLOW, S; HARRIES, C1
AUERBACH, VH; DIGEORGE, AM1
HOWELL, RR; JACOBY, GA; LA DU, BN; SEEGMILLER, JE; ZANNONI, VG1
Appleton, D; Coman, D; Jaeken, J; Klingberg, S; MacDonald, R; McGill, J; Morris, D1
Waisman, HA2
Ghadimi, H; Partington, MW1
Erbe, RW; Wang, JC1
Bacchus, B; Dyme, IZ; Horwitz, SJ; Kerr, DS1
Nikolaeva, EA1
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, F1
Knoll, E; Scheibenreiter, S; Schön, R; Thalhammer, O; Wehle, E1
de Bree, PK; Duran, M; Ketting, D; Penders, TJ; van Sprang, FJ; Wadman, SK; Wilms, RH1
Byrd, D; Olek, K; Wardenbach, P1
Ai, LS; Hsieh, M; Li, C; Lin, CH1
Enzenauer, J; Matz, D; Menne, F1
Menne, F2
Brown, ES; Geison, RL; Gerritsen, T; Waisman, HA1
Brandt, NJ1
berger, H; jarosch, E; Ludescher, E1
Stern, J1
Ferré, C; Maya, A; Puliol, M; Sabater, J1
Hilton, S; Nyhan, WL1
Bardet, J; de Blois, MC; Kamoun, P; Lejeune, J; Parvy, P; Peeters, M; Rabier, D; Rethoré, MO1
Clow, CL; Grove, J; Popkin, JS; Scriver, CR1
Arakawa, T1
Bakwin, H1
Holmgren, G1
Levy, HL; Madigan, PM; Shih, VE1
Bulfield, G; Kacser, H1
Arakawa, T; Honda, Y; Yoshida, T1
Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M1
Lilly, PM; Neville, GR1
Harrod, EK; Housler, ME; Lindmark, DG; Mosovich, L; Murphey, WH; Patchen, LI1
Arakawa, T; Hirono, H; Honda, Y; Narisawa, K; Yoshida, T1
Oldendorf, WH1
Gardner, RJ; Lyon, IC; Veale, AM1
Bentovim, A; Clayton, BE; Neville, BG; Shepherd, J1
Bischoff, S; Lampart, C; Pollard, H; Rehault, MC; Rose, C; Schwartz, JC1
Arakawa, T; Honda, Y; Tada, K; Yoshida, T1
Griffiths, MI1
Garvey, AM; Gordon, N1
Kibel, MA; Levy, HL1
Levy, HL; Lott, IT; Wheelden, JA1
McKean, CM; Peterson, NA1
Giovannini, M1
Corner, BD; Holton, JB; Norman, RM; Williams, PM1
Gerber, DA; Gerber, MG1
Holton, JB; Seakins, JW1
Harris, JA; Snyder, CH; Woody, NC1
Bowman, JK; Clarance, GA1
de Bree, PK; van Sprang, FJ; van Stekelenburg, GJ; Wadman, SK1

Reviews

4 review(s) available for histidine and Deficiency, Mental

ArticleYear
[Histidenemia (a review of the literature)].
    Voprosy okhrany materinstva i detstva, 1980, Volume: 25, Issue:1

    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.
    Clinics in endocrinology and metabolism, 1974, Volume: 3, Issue:1

    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.
    Pediatric clinics of North America, 1968, Volume: 15, Issue:3

    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].
    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

70 other study(ies) available for histidine and Deficiency, Mental

ArticleYear
Role of a conserved glutamine in the function of voltage-gated Ca
    The Journal of biological chemistry, 2018, 09-14, Volume: 293, Issue:37

    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).
    Molecular genetics & genomic medicine, 2019, Volume: 7, Issue:8

    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.
    Pediatric neurology, 2013, Volume: 49, Issue:6

    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.
    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
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
    Journal of medical genetics, 2009, Volume: 46, Issue:6

    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.
    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
Histidinemia. A deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acid.
    The Journal of pediatrics, 1962, Volume: 60

    Topics: Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Histidine; Histidine Ammonia-Lyase; Humans; Imidazoles; Intellectual Disability; Pyruvates

1962
[Histidinemia].
    Pediatrie, 1962, Volume: 17

    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.
    The Journal of clinical endocrinology and metabolism, 1963, Volume: 23

    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.
    The Biochemical journal, 1963, Volume: 88

    Topics: Amino Acid Metabolism, Inborn Errors; Epidermis; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Lyases; Metabolic Diseases; Skin

1963
A case of histidinaemia.
    Archives of disease in childhood, 1963, Volume: 38

    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.
    Pediatrics, 1963, Volume: 32

    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.
    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
[CONSIDERATIONS ON A CASE OF MENTAL DEFICIENCY WITH ABNORMALITIES OF HISTIDINE METABOLISM].
    Minerva pediatrica, 1964, Mar-10, Volume: 16

    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.
    The New England journal of medicine, 1964, Jun-25, Volume: 270

    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.
    The Journal of biological chemistry, 1964, Volume: 239

    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].
    Minerva pediatrica, 1964, Sep-29, Volume: 16

    Topics: Amino Acid Metabolism, Inborn Errors; Blood; Body Fluids; Child; Chromatography; Histidine; Humans; Intellectual Disability; Speech Disorders; Urine

1964
BIOCHEMICAL INVESTIGATION OF HISTIDINAEMIA.
    Journal of clinical pathology, 1964, Volume: 17

    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.
    Clinica chimica acta; international journal of clinical chemistry, 1965, Volume: 11

    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.
    The Journal-lancet, 1965, Volume: 85

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Molecular Biology

1965
HISTIDINEMIA.
    Revista de neuro-psiquiatria, 1964, Volume: 27

    Topics: Amino Acid Metabolism, Inborn Errors; Blood; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability

1964
The enzymatic defect in histidinemia.
    Biochemical and biophysical research communications, 1962, May-11, Volume: 7

    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.
    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
Some theoretical considerations in the treatment of homocystinuria.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    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.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    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.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    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.
    American journal of medical genetics, 1984, Volume: 17, Issue:1

    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.
    American journal of diseases of children (1960), 1983, Volume: 137, Issue:3

    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.
    The Journal of pediatrics, 1982, Volume: 101, Issue:4

    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)].
    Klinische Padiatrie, 1980, Volume: 192, Issue:6

    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.
    European journal of pediatrics, 1981, Volume: 136, Issue:3

    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)].
    Klinische Wochenschrift, 1980, Feb-01, Volume: 58, Issue:3

    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.
    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
[Diagnosis and therapy of 6 hereditary, to mental-deficiency-leading, metabolic disorders. 2].
    Medizinische Klinik, 1976, Apr-30, Volume: 71, Issue:18

    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].
    La Clinica terapeutica, 1979, Mar-15, Volume: 88, Issue:5

    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.
    Helvetica paediatrica acta, 1977, Volume: 32, Issue:4-5

    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].
    Ugeskrift for laeger, 1976, Sep-13, Volume: 138, Issue:38

    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)].
    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
Biochemistry of mental retardation.
    Proceedings of the Royal Society of Medicine, 1975, Volume: 68, Issue:9

    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.
    Clinical genetics, 1976, Volume: 9, Issue:2

    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.
    American journal of medical genetics, 1992, Nov-15, Volume: 44, Issue:5

    Topics: Child; Histidine; Humans; Hypoglycemia; Intellectual Disability; Intestinal Absorption; Malabsorption Syndromes; Male

1992
[Cri-du-chat disease: plasma and urinary amino acids].
    Annales de genetique, 1990, Volume: 33, Issue:1

    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?
    Lancet (London, England), 1974, Apr-20, Volume: 1, Issue:7860

    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?
    Lancet (London, England), 1974, Apr-20, Volume: 1, Issue:7860

    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.
    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
Routine newborn screening for histidinemia. Clinical and biochemical results.
    The New England journal of medicine, 1974, Dec-05, Volume: 291, Issue:23

    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.
    Archives of disease in childhood, 1974, Volume: 49, Issue:7

    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.
    The Tohoku journal of experimental medicine, 1972, Volume: 108, Issue:3

    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.
    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
Histidinaemia: its significance in neonatal screening.
    Archives of disease in childhood, 1973, Volume: 48, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Histidine; Humans; Infant; Intellectual Disability

1973
Serum carnosinase deficiency concomitant with mental retardation.
    Pediatric research, 1973, Volume: 7, Issue:7

    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.
    The Tohoku journal of experimental medicine, 1973, Volume: 110, Issue:1

    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.
    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
Maternal histidinaemia.
    Archives of disease in childhood, 1974, Volume: 49, Issue:7

    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.
    Archives of disease in childhood, 1972, Volume: 47, Issue:252

    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.
    British medical journal, 1972, Aug-19, Volume: 3, Issue:5824

    Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Histidine; Humans; Intellectual Disability

1972
Histamine formation in rat brain during development.
    Journal of neurochemistry, 1971, Volume: 18, Issue:9

    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.
    The Tohoku journal of experimental medicine, 1971, Volume: 104, Issue:4

    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.
    Archives of disease in childhood, 1971, Volume: 46, Issue:250

    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.
    The British journal of disorders of communication, 1969, Volume: 4, Issue:2

    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.
    South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1970, Feb-28, Volume: 44, Issue:9

    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.
    Developmental medicine and child neurology, 1970, Volume: 12, Issue:5

    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.
    The New England journal of medicine, 1970, Dec-17, Volume: 283, Issue:25

    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].
    Minerva pediatrica, 1967, Dec-22, Volume: 19, Issue:51

    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.
    Pediatrics, 1968, Volume: 41, Issue:6

    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.
    Pediatrics, 1969, Volume: 43, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Chelating Agents; Child; Child, Preschool; Cyclohexanes; Histidine; Humans; Infant; Intellectual Disability; Mass Screening; Methods

1969
Histidinaemia.
    The Biochemical journal, 1969, Volume: 111, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Histidine; Humans; Intellectual Disability; Lyases

1969
Histidinemia.
    American journal of diseases of children (1960), 1965, Volume: 110, Issue:6

    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.
    British medical journal, 1966, Apr-23, Volume: 1, Issue:5494

    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.
    Zeitschrift fur die gesamte innere Medizin und ihre Grenzgebiete, 1966, Feb-15, Volume: 21, Issue:4

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography; Chromatography, Paper; Diet; Female; Histidine; Humans; Intellectual Disability

1966