Page last updated: 2024-08-22

deuterium and Metabolism, Inborn Errors

deuterium has been researched along with Metabolism, Inborn Errors in 11 studies

Research

Studies (11)

TimeframeStudies, this research(%)All Research%
pre-19903 (27.27)18.7374
1990's5 (45.45)18.2507
2000's2 (18.18)29.6817
2010's1 (9.09)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Fong, BM; Leung, KS; Tam, S1
Gibson, KM; Jakobs, C; Struys, EA1
Bootsma, AH; Gibson, KM; Hoffmann, GF; Jakobs, C; Kok, RM; Schor, DS; ten Brink, HJ1
Divry, P; Mathieu, M; Parnet, JM; Vianey-Saban, C1
Arthur, K; Hommes, FA1
Schäfer, R1
Brivet, M; Roe, CR; Roe, DS; Sweetman, L1
Halliday, D; Leonard, JV; Thompson, GN; Walter, JH1
Mamer, OA; Montgomery, JA1
Gregg, CT1
Baerlocher, K; Curtius, HC; Völlmin, JA1

Reviews

1 review(s) available for deuterium and Metabolism, Inborn Errors

ArticleYear
Some application of stable isotopes in clinical pharmacology.
    European journal of clinical pharmacology, 1974, Jul-26, Volume: 7, Issue:4

    Topics: Animals; Carbon Isotopes; Carbon Radioisotopes; Chromatography, Gas; Deuterium; Humans; Isotopes; Mass Spectrometry; Metabolism, Inborn Errors; Methods; Mice; Nitrogen Isotopes; Oxygen Isotopes; Pharmaceutical Preparations; Pharmacology; Phenytoin; Radioisotope Dilution Technique; Sulfur Isotopes

1974

Other Studies

10 other study(ies) available for deuterium and Metabolism, Inborn Errors

ArticleYear
Quantification of acylglycines in human urine by HPLC electrospray ionization-tandem mass spectrometry and the establishment of pediatric reference interval in local Chinese.
    Talanta, 2012, Jan-15, Volume: 88

    Topics: 1-Butanol; Acylation; Adolescent; Asian People; Calibration; Carnitine; Child; Child, Preschool; Chromatography, High Pressure Liquid; Deuterium; Female; Glycine; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Reference Values; Sensitivity and Specificity; Solid Phase Extraction; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry

2012
Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.
    Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5

    Topics: Alcohol Oxidoreductases; Carbon Isotopes; Cell Line; Citric Acid; Deuterium; Gas Chromatography-Mass Spectrometry; Glucose; Glutamic Acid; Glutarates; Humans; Ketoglutaric Acids; Lymphocytes; Metabolism, Inborn Errors; Oxidation-Reduction

2007
Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias.
    Pediatric research, 1993, Volume: 34, Issue:3

    Topics: Acyl-CoA Dehydrogenase; Adult; Body Fluids; Child; Deuterium; Fatty Acid Desaturases; Female; Fetal Diseases; Glutarates; Humans; Indicator Dilution Techniques; Intellectual Disability; Male; Metabolism, Inborn Errors; Molecular Structure; Prenatal Diagnosis; Stereoisomerism

1993
Stable-isotope selected-ion monitoring quantification of methylmalonic acid in dried filter-paper urine samples.
    Journal of inherited metabolic disease, 1996, Volume: 19, Issue:5

    Topics: Deuterium; Gas Chromatography-Mass Spectrometry; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Paper

1996
Simple isotope dilution assay for propionic acid and isovaleric acid.
    Journal of chromatography. B, Biomedical applications, 1995, Nov-03, Volume: 673, Issue:1

    Topics: Creatinine; Deuterium; Esters; Fluorobenzenes; Gas Chromatography-Mass Spectrometry; Hemiterpenes; Humans; Indicator Dilution Techniques; Metabolism, Inborn Errors; Pentanoic Acids; Propionates; Reference Values

1995
[Detection of human proteins in vivo!].
    Fortschritte der Medizin, 1997, Oct-30, Volume: 115, Issue:30

    Topics: Blood Proteins; Carbon Radioisotopes; Deuterium; Humans; Leucine; Metabolism, Inborn Errors; Phenylalanine

1997
Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids.
    Molecular genetics and metabolism, 2000, Volume: 69, Issue:1

    Topics: Amino Acids, Branched-Chain; Biological Transport; Carnitine; Carnitine Acyltransferases; Cells, Cultured; Child; Deuterium; Fibroblasts; Humans; Intracellular Membranes; Isoleucine; Mass Spectrometry; Metabolism, Inborn Errors; Mitochondria; Oxidation-Reduction

2000
In vivo enzyme activity in inborn errors of metabolism.
    Metabolism: clinical and experimental, 1990, Volume: 39, Issue:8

    Topics: Adult; Bicarbonates; Carbon Isotopes; Child; Child, Preschool; Deuterium; Female; Humans; Hydroxylation; Isotope Labeling; Leucine; Male; Malonates; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methylmalonic Acid; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Propionates; Radioisotope Dilution Technique; Reference Values; Tyrosine

1990
Measurement of urinary free and acylcarnitines: quantitative acylcarnitine profiling in normal humans and in several patients with metabolic errors.
    Analytical biochemistry, 1989, Volume: 176, Issue:1

    Topics: Acylation; Biomarkers; Carnitine; Deuterium; Humans; Mass Spectrometry; Metabolism, Inborn Errors; Radioisotope Dilution Technique; Reference Values

1989
Study of metabolic pathways in vivo using stable isotopes.
    Analytical chemistry, 1973, Volume: 46, Issue:7

    Topics: Benzoates; Chromatography, Gas; Deuterium; Hippurates; Humans; Isotope Labeling; Leucine; Mass Spectrometry; Metabolism, Inborn Errors; Methods; Tyrosine

1973