isovaleric acid has been researched along with Inborn Errors of Metabolism in 26 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 7 (26.92) | 18.7374 |
| 1990's | 8 (30.77) | 18.2507 |
| 2000's | 11 (42.31) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Amaral, AU; De Bortoli, GM; Dutra-Filho, CS; Fernandes, CG; Latini, AS; Leipnitz, G; Seminotti, B; Solano, AF; Wajner, M | 1 |
| Lealman, GT; Rogozinski, H; Spinty, S; Wraith, JE | 1 |
| Feinstein, JA; O'Brien, K | 1 |
| Berry, SA; Burton, BK; Edland, SD; Ensenauer, R; Grünert, S; Hahn, S; Huey, JC; Koch, HG; Marquardt, I; Matern, D; Rinaldo, P; Santer, R; Sass, JO; Vockley, J; Willard, JM | 1 |
| Kim, KR; Lee, HJ; Paik, MJ | 1 |
| Baykal, T; Demir, F; Demirkol, M; Huner, G | 1 |
| Gao, XL; Gu, XF; Han, LS; Qiu, WJ; Ye, J | 1 |
| Ensenauer, R; Vockley, J | 1 |
| Lai, CC; Lee, CC; Lin, WD; Tsai, FJ; Tsai, Y; Wang, CH | 1 |
| Hagberg, B; Hjalmarson, O; Lindstedt, S; Ransnäs, L; Steen, G | 1 |
| Desnick, RJ; Schweitzer, LB | 1 |
| Guibaud, P; Rousson, R | 1 |
| Bumack, C; Burke, D; Danks, DM; Haan, EA; Halpern, B; Hammond, J; Hick, L; Malegan, D; McCairns, E; Nyhan, WL; Sims, P; Sweetman, L; Tanaka, K; Truscott, RJ | 1 |
| Henretig, FM; Kaplan, P; Krantz, I; Mehta, KC; Osterhoudt, KC; Zsolway, K | 1 |
| Arthur, K; Hommes, FA | 1 |
| Yoshida, I | 1 |
| Abdenur, JE; Chamoles, NA; Fuertes, AN; Guinle, AE; Schenone, AB | 1 |
| Chalmers, RA; Down, S; Halket, JM; Mallard, WG; Przyborowska, A; Stein, SE | 1 |
| Anderson, BD; Liu, W; Rogan, PK; Seelan, RS; Smith, DI; Vockley, J; Willard, J | 1 |
| Blau, N; Bonafé, L; Burlina, AB; Chamoles, NA; Heizmann, CW; Kuster, T; Troxler, H | 1 |
| Liammongkolkul, S; Naylor, EW; Wasant, P | 1 |
| Nagao, M; Parimoo, B; Tanaka, K; Vockley, J | 1 |
| Caruso, U; Cerone, R; Pesce, F; Romano, C | 1 |
| Colevas, AD; Edwards, JL; Hruban, RH; Hutchins, GM; Mitchell, GA; Valle, D | 1 |
| Hyman, DB; Ikeda, Y; Matsubara, Y; Tanaka, K | 1 |
| Maltby, DA; Millington, DS | 1 |
4 review(s) available for isovaleric acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.
Topics: Hemiterpenes; Humans; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Metabolism, Inborn Errors; Mutation; Neonatal Screening; Pentanoic Acids | 2006 |
Inherited metabolic diseases: advances in delineation, diagnosis, and treatment.
Topics: Argininosuccinic Aciduria; Bone Marrow Transplantation; Carboxy-Lyases; Cystinosis; Genetic Engineering; Hemiterpenes; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Mucolipidoses; Mucopolysaccharidoses; Mucopolysaccharidosis III; Pentanoic Acids; Phenylketonurias; Thalassemia | 1983 |
[Isovaleric acidemia].
Topics: Diagnosis, Differential; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Metabolism, Inborn Errors; Mutation; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Prognosis | 1998 |
Molecular basis of isovaleric acidemia and medium-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenases; Amino Acid Sequence; Base Sequence; DNA, Circular; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Metabolism, Inborn Errors; Molecular Sequence Data; Mutation; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Protein Biosynthesis; Sequence Homology, Nucleic Acid; Valerates | 1987 |
22 other study(ies) available for isovaleric acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Induction of oxidative stress by the metabolites accumulating in isovaleric acidemia in brain cortex of young rats.
Topics: Animals; Cerebral Cortex; Free Radical Scavengers; Glutathione; Glycine; Hemiterpenes; Lipid Peroxidation; Metabolism, Inborn Errors; Mitochondria; Oxidative Stress; Pentanoic Acids; Protein Carbonylation; Rats; Rats, Wistar; Thiobarbituric Acid Reactive Substances | 2008 |
Second case of a successful pregnancy in maternal isovaleric acidaemia.
Topics: Adult; Ammonia; Apgar Score; Consanguinity; Female; Hemiterpenes; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Pentanoic Acids; Pregnancy; Pregnancy Outcome | 2002 |
Acute metabolic decompensation in an adult patient with isovaleric acidemia.
Topics: Acute Disease; Adolescent; Hemiterpenes; Humans; Male; Metabolism, Inborn Errors; Pentanoic Acids | 2003 |
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
Topics: Algorithms; DNA Primers; Genotype; Hemiterpenes; Humans; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Leucine; Mass Spectrometry; Metabolism, Inborn Errors; Mutation; Neonatal Screening; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Restriction Mapping | 2004 |
Simultaneous retention index analysis of urinary amino acids and carboxylic acids for graphic recognition of abnormal state.
Topics: Acetamides; Amino Acids; Carboxylic Acids; Child; Child, Preschool; Chromatography, Gas; Fluoroacetates; Hemiterpenes; Humans; Hydroxylamines; Infant; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methylmalonic Acid; Organosilicon Compounds; Pentanoic Acids; Phenylketonurias; Trifluoroacetic Acid | 2005 |
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Breast Feeding; Child, Preschool; Follow-Up Studies; Glutarates; Hemiterpenes; Humans; Infant; Infant Formula; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methylmalonyl-CoA Mutase; Ornithine Carbamoyltransferase Deficiency Disease; Pentanoic Acids; Propionates; Time Factors | 2005 |
[Application of tandem mass spectrometry in diagnosis of organic acidemias].
Topics: Adolescent; Child; Child, Preschool; Female; Filtration; Gas Chromatography-Mass Spectrometry; Glutarates; Hemiterpenes; Humans; Infant; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Pentanoic Acids; Propionic Acidemia; Tandem Mass Spectrometry | 2005 |
Genetic mutation profile of isovaleric acidemia patients in Taiwan.
Topics: Adult; Carnitine; Child; Child, Preschool; Female; Hemiterpenes; Humans; Infant; Isovaleryl-CoA Dehydrogenase; Male; Metabolism, Inborn Errors; Mutation; Pentanoic Acids; Polymorphism, Genetic; Spectrometry, Mass, Electrospray Ionization; Taiwan | 2007 |
3-Methylglutaconic aciduria in two infants.
Topics: Creatinine; Female; Fibroblasts; Glutarates; Hemiterpenes; Humans; Hydroxymethylglutaryl-CoA Synthase; Infant; Leucine; Leukocytes; Meglutol; Metabolism, Inborn Errors; Pentanoic Acids | 1983 |
Long term outcome of organic acidurias: survey of 105 French cases (1967-1983).
Topics: Acids; Adolescent; Child; Child, Preschool; France; Hemiterpenes; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methylmalonic Acid; Pentanoic Acids; Prognosis; Propionates; Time Factors | 1984 |
New metabolites in isovaleric acidemia.
Topics: 4-Butyrolactone; Chemical Phenomena; Chemistry; Gas Chromatography-Mass Spectrometry; Hemiterpenes; Humans; Infant, Newborn; Male; Maleates; Metabolism, Inborn Errors; Pentanoic Acids; Valerates | 1981 |
Lessons from the late diagnosis of isovaleric acidemia in a five-year-old boy.
Topics: Acid-Base Equilibrium; Acidosis; Child, Preschool; Gas Chromatography-Mass Spectrometry; Hemiterpenes; Humans; Male; Metabolism, Inborn Errors; Pentanoic Acids; Sodium Bicarbonate | 1996 |
Simple isotope dilution assay for propionic acid and isovaleric acid.
Topics: Creatinine; Deuterium; Esters; Fluorobenzenes; Gas Chromatography-Mass Spectrometry; Hemiterpenes; Humans; Indicator Dilution Techniques; Metabolism, Inborn Errors; Pentanoic Acids; Propionates; Reference Values | 1995 |
Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme.
Topics: Carnitine; False Positive Reactions; Female; Gas Chromatography-Mass Spectrometry; Hemiterpenes; Humans; Infant, Newborn; Mass Spectrometry; Metabolism, Inborn Errors; Neonatal Screening; Pentanoic Acids; Sulbactam; Urinary Tract Infections | 1998 |
Deconvolution gas chromatography/mass spectrometry of urinary organic acids--potential for pattern recognition and automated identification of metabolic disorders.
Topics: Acyl-CoA Dehydrogenase; Autoanalysis; Child, Preschool; Dicarboxylic Acids; Fatty Acid Desaturases; Gas Chromatography-Mass Spectrometry; Glutarates; Hemiterpenes; Humans; Infant; Meglutol; Metabolism, Inborn Errors; Methylmalonic Acid; Pattern Recognition, Automated; Pentanoic Acids; Propionates | 1999 |
Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.
Topics: Animals; Base Sequence; Cell Line; Enzyme Stability; Exons; Fibroblasts; Gene Frequency; Hemiterpenes; Humans; Hydrogen-Ion Concentration; Introns; Isovaleryl-CoA Dehydrogenase; Metabolism, Inborn Errors; Molecular Sequence Data; Open Reading Frames; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Point Mutation; Polymorphism, Genetic; Regulatory Sequences, Nucleic Acid; RNA Interference; RNA, Messenger; Tandem Repeat Sequences | 2000 |
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Amidohydrolases; Biotinidase; Carbon-Nitrogen Ligases; Child; Child, Preschool; Fatty Acid Desaturases; Glycine; Hemiterpenes; Humans; Infant; Infant, Newborn; Mass Spectrometry; Meglutol; Metabolism, Inborn Errors; Methylmalonic Acid; Mitochondria; Pentanoic Acids; Propionates | 2000 |
Detection of inherited metabolic disorders via tandem mass spectrometry in Thai infants.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Carnitine Acyltransferases; Child; Fatty Acids; Hemiterpenes; Humans; Infant; Infant, Newborn; Male; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Pentanoic Acids; Phenylketonurias; Retrospective Studies; Spectrometry, Mass, Electrospray Ionization; Thailand | 1999 |
Identification of the molecular defects responsible for the various genotypes of isovaleric acidemia.
Topics: Alleles; Amino Acid Sequence; Base Sequence; DNA; Fibroblasts; Genetic Variation; Genome, Human; Genotype; Hemiterpenes; Humans; Metabolism, Inborn Errors; Molecular Sequence Data; Mutation; Pentanoic Acids; Polymerase Chain Reaction; Reference Values | 1992 |
Acute neonatal isovaleric acidaemia presented without acidosis or ketonuria.
Topics: Acidosis; Dietary Proteins; Female; Glycine; Hemiterpenes; Humans; Infant; Ketones; Male; Metabolism, Inborn Errors; Pentanoic Acids | 1991 |
Glutaric acidemia type II. Comparison of pathologic features in two infants.
Topics: Brain; Electron Transport; Female; Flavoproteins; Glutarates; Hemiterpenes; Humans; Infant, Newborn; Kidney; Male; Metabolism, Inborn Errors; Oxidoreductases; Pentanoic Acids | 1988 |
Analysis of volatile free fatty acids in human urine by capillary column gas chromatography/mass spectrometry.
Topics: Acetates; Child; Fatty Acids, Volatile; Gas Chromatography-Mass Spectrometry; Glutarates; Hemiterpenes; Humans; Ketosis; Lactates; Lactic Acid; Metabolism, Inborn Errors; Pentanoic Acids; Propionates | 1986 |