valine and Metabolism, Inborn Errors

valine has been researched along with Metabolism, Inborn Errors in 20 studies

Research

Studies (20)

TimeframeStudies, this research(%)All Research%
pre-199013 (65.00)18.7374
1990's2 (10.00)18.2507
2000's1 (5.00)29.6817
2010's4 (20.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Ahmadi, KR; Andrew, T; Dalmia, A; Dib, MJ; Harrington, DJ; Maude, H; Sobczyńska-Malefora, A1
Amin, N; C 't Hoen, PA; de Vries, B; Deelder, AM; Demirkan, A; Dharuri, H; Göraler, S; Henneman, P; Karssen, LC; Meissner, A; van den Maagdenberg, AM; van Dijk, KW; van Duijn, CM; van Klinken, JB; Verhoeven, A1
Aiba, K; Fukushi, D; Kitaura, Y; Kondo, Y; Murayama, K; Nakamura, Y; Nomura, N; Pitt, J; Shimomura, Y; Wakamatsu, N; Yamada, K; Yamaguchi, S; Yokochi, K1
Sass, JO1
Ballhausen, D; Baumgartner, MR; Duran, M; Ijlst, L; Loupatty, FJ; Ofman, R; Ruiter, JP; van der Steen, A; Wanders, RJ; Yamaguchi, S1
Pollitt, RJ; Sandhu, B1
Goodman, SI; Markey, SP1
Lebowitz, J; Morrow, G; Revsin, B1
de Groot, CJ; Hommes, FA; van den Berg, H1
Glassberg, R; Indo, Y; Tanaka, K; Yokota, I2
Ando, T; Hull, D; Nyhan, WL; Rasmussen, K1
Ando, T; Fawcett, N; Julius, RL; Nyhan, WL; Rennert, OM1
Iivanainen, M; Palo, J; Savolainen, H1
Chalmers, RA; Lawson, AM; Watts, RW1
Gompertz, D; Hoffbrand, AV1
Plöchl, E1
Steuer, W1
Lindblad, B; Lindstrand, K; Svanberg, B; Zetterström, R1
Wada, Y1

Reviews

2 review(s) available for valine and Metabolism, Inborn Errors

ArticleYear
Methymalonic aciduria.
    British journal of haematology, 1970, Volume: 18, Issue:4

    Topics: Child; Chromatography, Gas; Humans; Isoleucine; Isomerases; Liver; Malonates; Metabolism, Inborn Errors; Neurologic Manifestations; Propionates; Valine; Vitamin B 12 Deficiency

1970
[Diseases of newborn infants based on inborn anomalies of metabolism. 1. Theoretical principles].
    Wiener medizinische Wochenschrift (1946), 1970, Oct-10, Volume: 120, Issue:41

    Topics: Adrenal Hyperplasia, Congenital; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Female; Hormones; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Urea; Valine

1970

Other Studies

18 other study(ies) available for valine and Metabolism, Inborn Errors

ArticleYear
A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B
    The Journal of nutritional biochemistry, 2019, Volume: 70

    Topics: Adult; Aged; Aged, 80 and over; Alkyl and Aryl Transferases; Biomarkers; Energy Metabolism; Female; Ferredoxin-NADP Reductase; Genome-Wide Association Study; Homocysteine; Humans; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Middle Aged; Mitochondria; Molecular Epidemiology; Polymorphism, Single Nucleotide; Thiolester Hydrolases; Transcobalamins; Valine; Vitamin B 12

2019
Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses.
    PLoS genetics, 2015, Volume: 11, Issue:1

    Topics: Exome; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Glycine; Humans; Metabolism, Inborn Errors; Metabolome; Phenotype; Polymorphism, Single Nucleotide; Pyruvic Acid; Quantitative Trait Loci; Valine

2015
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
    Journal of medical genetics, 2015, Volume: 52, Issue:10

    Topics: Acetylcysteine; Acyl Coenzyme A; Child; Child, Preschool; Enoyl-CoA Hydratase; Female; Humans; Japan; Male; Metabolic Networks and Pathways; Metabolism, Inborn Errors; Mutation; Valine

2015
Disorders of the degradation of branched chain amino acids: what is new in clinics and laboratories?
    Journal of inherited metabolic disease, 2012, Volume: 35, Issue:1

    Topics: Amino Acids, Branched-Chain; Animals; Germany; Humans; Isoleucine; Leucine; Metabolism, Inborn Errors; Mice; Societies, Medical; Valine

2012
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.
    Molecular genetics and metabolism, 2006, Volume: 87, Issue:3

    Topics: Alcohol Oxidoreductases; Cells, Cultured; Child, Preschool; DNA; DNA Mutational Analysis; Genome, Human; Humans; Hydroxybutyrates; Male; Metabolism, Inborn Errors; Recombinant Fusion Proteins; Valine

2006
Ascorbic acid: an unstable ninhydrin-positive urinary constituent running with valine in a commonly used screening system.
    Journal of inherited metabolic disease, 1980, Volume: 3, Issue:1

    Topics: Ascorbic Acid; Child; Child, Preschool; Chromatography, Thin Layer; Genetic Testing; Humans; Infant; Metabolism, Inborn Errors; Ninhydrin; Specimen Handling; Valine

1980
Diagnosis of organic acidemias by gas chromatography--mass spectrometry.
    Laboratory and research methods in biology and medicine, 1981, Volume: 6

    Topics: Acid-Base Imbalance; Gas Chromatography-Mass Spectrometry; Humans; Isoleucine; Leucine; Lysine; Metabolism, Inborn Errors; Tryptophan; Valine

1981
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
    Pediatric research, 1977, Volume: 11, Issue:6

    Topics: Carboxy-Lyases; Fibroblasts; Glycine; Humans; In Vitro Techniques; Isoleucine; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Propionates; Valine

1977
Studies on the valine sensitivity in non-ketotic hyperglycinemia.
    Helvetica paediatrica acta, 1975, Volume: 30, Issue:3

    Topics: Animals; Fatty Acids; Female; Glycine; Humans; Infant, Newborn; Kidney Cortex; Liver; Male; Metabolism, Inborn Errors; Stimulation, Chemical; Valine

1975
Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II, and identification of glycine substitution for valine 157, producing an unstable mature protein in a patient.
    Progress in clinical and biological research, 1992, Volume: 375

    Topics: Blotting, Northern; Electron-Transferring Flavoproteins; Flavoproteins; Genetic Testing; Genetic Variation; Glutarates; Glycine; Humans; Immunoblotting; Metabolism, Inborn Errors; Peptide Fragments; Point Mutation; Polymerase Chain Reaction; RNA, Messenger; Valine

1992
Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable matur
    American journal of human genetics, 1991, Volume: 49, Issue:3

    Topics: Acidosis; Base Sequence; Blotting, Northern; Cell Line; Electron-Transferring Flavoproteins; Flavoproteins; Genes, Recessive; Glutarates; Glycine; Humans; Metabolism, Inborn Errors; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Protein Conformation; Protein Precursors; Valine

1991
3-hydroxypropionate: significance of -oxidation of propionate in patients with propionic acidemia and methylmalonic acidemia.
    Proceedings of the National Academy of Sciences of the United States of America, 1972, Volume: 69, Issue:10

    Topics: Acidosis; Carbon Isotopes; Chromatography; Chromatography, Paper; Citrates; Humans; Hydroxylation; Injections, Intravenous; Isoleucine; Malonates; Mass Spectrometry; Metabolism, Inborn Errors; Oxidation-Reduction; Propionates; Valine

1972
Response to dietary therapy in B 12 unresponsive methylmalonic acidemia.
    Pediatrics, 1973, Volume: 51, Issue:3

    Topics: Acidosis; Agranulocytosis; Blood Glucose; Cephalometry; Child Development; Diet Therapy; Electroencephalography; Female; Growth Disorders; Humans; Infant; Intelligence; Isoleucine; Lymphocytosis; Malonates; Metabolism, Inborn Errors; Methionine; Otitis Media; Threonine; Valine; Vitamin B 12

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
Studies on the urinary acidic metabolites excreted by patients with beta-methylcrotonylglycinuria, propionic acidaemia and methylmalonic acidaemia, using gas-liquid chromatography and mass spectrometry.
    Clinica chimica acta; international journal of clinical chemistry, 1974, Volume: 52, Issue:1

    Topics: Butyrates; Chromatography, Gas; Citrates; Computers; Crotonates; Glycine; Isoleucine; Leucine; Malonates; Mass Spectrometry; Metabolism, Inborn Errors; Oxaloacetates; Propionates; Valine

1974
[Early diagnosis of congenital metabolic diseases].
    Minerva medica, 1971, Nov-03, Volume: 62, Issue:83

    Topics: Diet Therapy; Galactosemias; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant, Newborn; Leucine; Lipoproteins; Lysine; Metabolism, Inborn Errors; Phenylketonurias; Time Factors; Valine

1971
The effect of cobamide coenzyme in methylmalonic acidemia.
    Acta paediatrica Scandinavica, 1969, Volume: 58, Issue:2

    Topics: Acidosis; Acute Disease; Child, Preschool; Coenzymes; Dietary Proteins; Female; Humans; Male; Malonates; Metabolism, Inborn Errors; Valine

1969
Idiopathic hypervalinemia: valine and alpha keto-acids in blood following an oral dose of valine.
    The Tohoku journal of experimental medicine, 1965, Dec-25, Volume: 87, Issue:3

    Topics: Blood; Humans; Infant; Metabolism, Inborn Errors; Valine

1965