valine and Intellectual Disability

valine has been researched along with Intellectual Disability in 34 studies

Research

Studies (34)

TimeframeStudies, this research(%)All Research%
pre-199025 (73.53)18.7374
1990's0 (0.00)18.2507
2000's3 (8.82)29.6817
2010's5 (14.71)24.3611
2020's1 (2.94)2.80

Authors

AuthorsStudies
Aukland, SM; Elgen, IB; Fehn, JR; Fevang, SKE; Irgens, H; Njølstad, PR; Sirnes, E; Sulen, Å; Svalastoga, P; Valen, E1
Amin-Rasip, S; Bockenhauer, D; Brilstra, E; Differ, AM; Dumitriu, S; Guarino, S; Hussain, S; Issler, N; Keijzer-Veen, M; Kleta, R; Klootwijk, E; Knoers, N; Konijnenberg, AY; Lench, N; Oosterveld, MJ; Parrock, S; van Wieringen, H; Zdebik, AA1
Doja, A; Humphreys, P; McMillan, HJ; Venkateswaran, S1
Ikeda, S; Kato, T; Koyama, S; Maruyama, K; Sekijima, Y; Yoshida, T; Yoshinaga, T1
Jia, JP; Li, CJ; Wang, XL; Xing, Y; Yang, YH1
Jiang, T; Li, J; Li, K; Li, Y; Liu, B; Liu, Y; Shu, N; Song, M; Yu, C; Zhou, Y; Zhu, W1
Kiess, W; Klammt, J; Kratzsch, J; Kruis, T; Müller, E; Pfäffle, R; Schlicke, M; Schmidt, G; van de Leur, HS; Wallborn, T; Wüller, S1
Errijgers, V; Frank Kooy, R; Hayez-Delatte, F; Reyniers, E; Winnepenninckx, B1
MACKENZIE, DY; WOOLF, LI1
TASHIAN, RE1
HOLT, LE1
MCCLEAVE, PJ1
Abdalla, CB; Campos, M; dos Santos, JM; Pimentel, MM; Santos-Rebouças, CB1
Efron, ML1
Arakawa, T; Tada, K; Wada, Y1
Arakawa, T; Dancis, J; Hutzler, J; Morikawa, T; Tada, K; Wada, Y1
Reddi, OS; Reddy, KR; Reddy, SV1
Grüttner, R; Held, KR; Plettner, C; Singh, S; Sternowsky, HJ1
Bejar, RL; Nyhan, WL; Park, S; Smith, GF; Spellacy, WN; Wolfson, SL1
Fekete, G1
Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M1
Oldendorf, WH1
Iivanainen, M; Palo, J; Savolainen, H1
Hansson, O; Tuvemo, T; Westphal, O1
Hart, ZH; Krieger, I1
Menne, F1
Carson, NA1
Arjundas, G; Chamukuttan, S; Gajanan, N; Kalyanaraman, K; Ramamurthi, B1
van der Horst, JL; Wadman, SK1
Barness, LA; Morrow, G1
Kolendrianos, ET; Schwartz, JF1
Dickinson, JP; Holton, JB; Lewis, GM; Littlewood, JM; Steel, AE1
Heeley, AF; McCubbing, DG; Shepherd, J1

Reviews

2 review(s) available for valine and Intellectual Disability

ArticleYear
[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
Hypervalinemia.
    Nutrition reviews, 1968, Volume: 26, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Carbon Isotopes; Child, Preschool; Female; Growth; Haplorhini; Humans; Infant; Intellectual Disability; Keto Acids; Leukocytes; Valine; Vomiting

1968

Other Studies

32 other study(ies) available for valine and Intellectual Disability

ArticleYear
Intellectual Disability in K
    Diabetes care, 2020, Volume: 43, Issue:3

    Topics: Adolescent; Amino Acid Substitution; Case-Control Studies; Child; Child, Preschool; Codon, Nonsense; Cohort Studies; Diabetes Mellitus, Type 1; Female; Genetic Association Studies; Genotype; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Male; Methionine; Mutation, Missense; Norway; Potassium Channels, Inwardly Rectifying; Sulfonylurea Receptors; Valine

2020
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
    Nephron. Physiology, 2013, Volume: 123, Issue:3-4

    Topics: Alanine; Animals; Female; Genotype; Hearing Loss, Sensorineural; Humans; Intellectual Disability; Oocytes; Patch-Clamp Techniques; Point Mutation; Potassium Channels, Inwardly Rectifying; Protein Multimerization; Seizures; Sequence Analysis, DNA; Valine; Xenopus

2013
Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.
    Developmental medicine and child neurology, 2014, Volume: 56, Issue:1

    Topics: Activities of Daily Living; Adolescent; Adolescent Development; Age of Onset; Alanine; Cognition; Cognition Disorders; Diagnosis, Differential; Electroencephalography; Female; Humans; Intellectual Disability; Learning Disabilities; Mental Retardation, X-Linked; Methyl-CpG-Binding Protein 2; Mutation, Missense; Phenotype; Severity of Illness Index; Valine

2014
Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene.
    Internal medicine (Tokyo, Japan), 2014, Volume: 53, Issue:23

    Topics: Achilles Tendon; Alanine; Ataxia; Brain; Cataract; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Deglutition Disorders; Dysarthria; Dystonia; Early Diagnosis; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Middle Aged; Muscle Spasticity; Muscle Weakness; Mutation; Pedigree; Radiography; Treatment Outcome; Valine; Xanthomatosis, Cerebrotendinous

2014
Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.
    Journal of inherited metabolic disease, 2015, Volume: 38, Issue:5

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Base Sequence; Humans; Intellectual Disability; Male; Maple Syrup Urine Disease; Minor Histocompatibility Antigens; Molecular Sequence Data; Mutation, Missense; Pregnancy Proteins; Seizures; Transaminases; Valine

2015
COMT val158met modulates association between brain white matter architecture and IQ.
    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2009, Apr-05, Volume: 150B, Issue:3

    Topics: Adolescent; Adult; Amino Acid Substitution; Anisotropy; Brain; Case-Control Studies; Catechol O-Methyltransferase; Diagnostic and Statistical Manual of Mental Disorders; Diffusion Magnetic Resonance Imaging; Female; Frontal Lobe; Hippocampus; Humans; Intellectual Disability; Intelligence; Intelligence Tests; Male; Methionine; Nerve Fibers, Myelinated; Radiography; Valine; Young Adult

2009
A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation.
    The Journal of clinical endocrinology and metabolism, 2010, Volume: 95, Issue:5

    Topics: Amino Acid Substitution; Birth Weight; Body Size; Cognition Disorders; Endoplasmic Reticulum; Exons; Female; Fetal Growth Retardation; Glutamic Acid; Growth Disorders; Heterozygote; Humans; Infant, Newborn; Insulin-Like Growth Factor Binding Protein 3; Insulin-Like Growth Factor I; Intellectual Disability; Microcephaly; Mutation, Missense; Polymerase Chain Reaction; Receptor, IGF Type 1; Valine

2010
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
    Human mutation, 2002, Volume: 20, Issue:4

    Topics: Alanine; Amino Acid Substitution; Child, Preschool; Chromosomal Proteins, Non-Histone; Chromosomes, Human, X; CpG Islands; DNA-Binding Proteins; Female; Genetic Carrier Screening; Genetic Testing; Haplotypes; Humans; Infant; Intellectual Disability; Male; Methyl-CpG-Binding Protein 2; Mutation; Pedigree; Repressor Proteins; Rett Syndrome; Valine

2002
Maple syrup urine disease; an inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency.
    British medical journal, 1959, Jan-10, Volume: 1, Issue:5114

    Topics: Biochemical Phenomena; Child; Humans; Infant; Intellectual Disability; Isoleucine; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Valine

1959
Inhibition of brain glutamic acid decarboxylase by phenylalanine, valine, and leucine derivatives: a suggestion concerning the etiology of the neurological defect in phenylketonuria and branched-chain ketonuria.
    Metabolism: clinical and experimental, 1961, Volume: 10

    Topics: Amino Acids; Brain; Glutamate Decarboxylase; Humans; Intellectual Disability; Ketosis; Leucine; Lyases; Maple Syrup Urine Disease; Metabolic Diseases; Phenylalanine; Phenylketonurias; Valine

1961
[Maple syrup urine disease].
    Monatsschrift fur Kinderheilkunde, 1962, Volume: 110

    Topics: Biochemical Phenomena; Humans; Intellectual Disability; Leucine; Maple Syrup Urine Disease; Valine

1962
TUBEROUS SCLEROSIS: A POSSIBLE ASSOCIATION WITH ABNORMAL VALINE METABOLISM.
    The Medical journal of Australia, 1964, Aug-08, Volume: 2

    Topics: Humans; Infant; Intellectual Disability; Proteins; Tuberous Sclerosis; Urine; Valine

1964
The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males.
    Neuroscience letters, 2005, Apr-29, Volume: 379, Issue:1

    Topics: Adolescent; Alanine; Brazil; Child; Child, Preschool; DNA Mutational Analysis; DNA-Binding Proteins; Genetic Predisposition to Disease; Humans; Intellectual Disability; Male; Mutation; Valine

2005
Isovaleric acidemia.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Chromatography, Gas; Fatty Acids; Female; Humans; Infant; Intellectual Disability; Isoleucine; Leucine; Male; Valine

1967
Hypervalinemia. Its metabolic lesion and therapeutic approach.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Weight; Chromatography, Paper; Diet Therapy; Growth; Humans; Infant; Intellectual Disability; Pyridoxal Phosphate; Valine

1967
Hypervalinemia. A defect in valine transamination.
    Pediatrics, 1967, Volume: 39, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Asian People; Carbon Isotopes; Child, Preschool; Female; Fetal Diseases; Humans; Intellectual Disability; Isoleucine; Japan; Keto Acids; Leucine; Leukocytes; Methionine; Phenylalanine; Placenta; Pregnancy; Transaminases; Valine

1967
A sibship with hypervalinemia.
    Human genetics, 1977, Nov-02, Volume: 39, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Consanguinity; Female; Humans; Intellectual Disability; Male; Pedigree; Valine

1977
[Intermittent branched--chain ketoacidurie in ketotic hypoglycemia: investigations to localize the biochemical defect (author's transl)].
    Monatsschrift fur Kinderheilkunde, 1976, Volume: 124, Issue:2

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child; Female; Fibroblasts; Humans; Hypoglycemia; Intellectual Disability; Isoleucine; Keto Acids; Ketosis; Leucine; Leukocytes; Valine

1976
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
[Amino acid imbalance as a pathogenetic factor in mental retardation (author's transl)].
    Klinische Wochenschrift, 1974, May-15, Volume: 52, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain Chemistry; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Leucine; Methionine; Phenylalanine; Phenylketonurias; Rats; Tyrosine; Valine

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
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
[Diazoxide as therapy for idiopathic hypoglycemia in children (author's transl)].
    Monatsschrift fur Kinderheilkunde, 1974, Volume: 122, Issue:1

    Topics: Catecholamines; Child; Child, Preschool; Cyanosis; Diazoxide; Diet Therapy; Fasting; Female; Fever; Humans; Hypoglycemia; Infant; Infant, Newborn; Insulin; Intellectual Disability; Isoleucine; Leucine; Male; Microcephaly; Pregnancy; Seizures; Valine

1974
Valine-sensitive nonketotic hyperglycinemia. Case report.
    The Journal of pediatrics, 1974, Volume: 85, Issue:1

    Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Benzoates; Brain Diseases; Brain Stem; Carbon Dioxide; Carbon Radioisotopes; Chromatography; Coma; Diet Therapy; Drug Hypersensitivity; Electroencephalography; Female; Glycine; Humans; Hydroxyproline; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Isoleucine; Valine

1974
Chemical pathology of amino acid diseases.
    Acta neurologica et psychiatrica Belgica, 1968, Volume: 68, Issue:4

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Child; Child, Preschool; Female; Homocystine; Humans; Hypoglycemia; Infant; Intellectual Disability; Leucine; Male; Maple Syrup Urine Disease; Methionine; Pyridoxine; Valine

1968
Maple syrup urine disease (branched-chain keto-aciduria) variant type manifesting as hyperkinetic behaviour and mental retardation. Report of two cases.
    Journal of the neurological sciences, 1972, Volume: 15, Issue:2

    Topics: Child, Preschool; Humans; Hyperkinesis; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Pedigree; Pyruvates; Valine

1972
A variant form of branched-chain keto aciduria.
    Acta paediatrica Scandinavica, 1971, Volume: 60, Issue:5

    Topics: Amino Acids; Child Behavior Disorders; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Diet Therapy; Dietary Proteins; Female; Heterozygote; Humans; Infant; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Methionine; Motor Skills; Pedigree; Phenylketonurias; Tyrosine; Valine

1971
Studies in a patient with methylmalonic acidemia.
    The Journal of pediatrics, 1969, Volume: 74, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Diet; Dietary Proteins; Glycine; Humans; Infant; Infant, Newborn; Intellectual Disability; Isoleucine; Isomerases; Leucine; Male; Malonates; Valine; Vitamin B 12

1969
M aple syrup urine disease. A review with a report of an additional case.
    Developmental medicine and child neurology, 1969, Volume: 11, Issue:4

    Topics: Diet Therapy; Humans; Infant, Newborn; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Valine

1969
Maple syrup urine disease. Four years' experience with dietary treatment of a case.
    Acta paediatrica Scandinavica, 1969, Volume: 58, Issue:4

    Topics: Child, Preschool; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Isoleucine; Leucine; Maple Syrup Urine Disease; Prognosis; Time Factors; Valine

1969
Effect of pyridoxine on the metabolism of tryptophan and branched-chain amino acids in two mentally retarded sibs.
    Archives of disease in childhood, 1966, Volume: 41, Issue:220

    Topics: Child, Preschool; Female; Humans; Intellectual Disability; Isoleucine; Leucine; Male; Pyridines; Pyridoxine; Tryptophan; Valine

1966