isovaleric acid has been researched along with Amino Acid Metabolism Disorders, Inborn in 52 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 28 (53.85) | 18.7374 |
| 1990's | 11 (21.15) | 18.2507 |
| 2000's | 9 (17.31) | 29.6817 |
| 2010's | 4 (7.69) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Aldamiz-Echevarría, L; Barros, P; Belanger-Quintana, A; Blasco, J; Bueno, MA; Couce, ML; Fernández-Marmiesse, A; García-Silva, MT; Márquez-Armenteros, AM; Navarrete, R; Pérez, B; Pérez-Cerdá, C; Vitoria, I; Vives, I | 1 |
| Antuzzi, D; Castorina, M; Ricci, R; Rigante, D; Sciascia Cannizzaro, G | 1 |
| Loots, DT | 1 |
| Chan, AY; Lai, CK; Lam, CW; Lee, HH; Lee, RS; Siu, TS; Yuen, YP | 1 |
| Cayonu, N; Erdem, E; Uysalol, E; Yildirmak, ZY | 1 |
| Banno, Y; Daimon, T; Katsuma, S; Mita, K; Shimada, T; Shimizu, K; Terada, T; Urano, K | 1 |
| Acun, C; Aktuglu, C; Aydin, K; Demirel, F; Sogut, A; Tomac, N; Tomsac, N | 1 |
| Baykal, T; Demir, F; Demirkol, M; Huner, G | 1 |
| Erasmus, E; Loots, DT; Mienie, LJ | 2 |
| Audenaert, SM; Squillaro, EJ; Wilson, WG | 1 |
| Charpentier, C; Coudé, FX; Depondt, E; Frézal, J; Mitchell, G; Munnich, A; Ogier, H; Rey, F; Rey, J; Saudubray, JM | 1 |
| Chalmers, RA; Hoppel, CL; Roe, CR; Stacey, TE | 1 |
| Bohan, TP; Kahler, SG; Maltby, DA; Millington, DS; Roe, CR | 1 |
| Burke, DG; Danks, D; Halpern, B; Malegan, D; McCairns, E; Schlesinger, P; Wilken, B | 1 |
| Duran, M; Houstková, H; Hyánek, J; Kozich, V; Pĕtová, J; Pisacka, M; Rubín, A; Wadman, SK; Zapadlo, M; Zeman, J | 1 |
| Dabrowski, C; Dubiel, B; Tanaka, K; Wetts, R | 1 |
| Bruinvis, L; Dorland, L; Duran, M; Ketting, D; Niederwieser, A; Wadman, SK | 1 |
| Liehr, JG; Mendiola, J; Robotham, JL; Williams, JC | 1 |
| Hillman, RE; Peden, VH; Williams, KM | 1 |
| Batenburg-Plenter, AM; Bruinvis, L; Duran, M; Ketting, D; van Pelt, BC; Wadman, SK | 1 |
| Mori, M; Tatibana, M; Uchiyama, C; Yamashita, F; Yoshida, I; Yoshino, M | 1 |
| Kirschenbaum, DM | 1 |
| Inoue, Y; Kameyama, J; Momoi, T; Shigematsu, Y; Sudo, M; Suzuki, Y | 1 |
| Bakkeren, JA; Houben, ML; Ruitenbeek, W; Sengers, RC; Trijbels, JM; Van der Zeè, SP | 1 |
| Briand, P; Cathelineau, L; Charpentier, C; Coudé, FX; Ogier, H; Saudubray, JM | 1 |
| Lehnert, W | 2 |
| August, CS; Cohn, RM; Hutchinson, R; Kelleher, JF; Yudkoff, M | 1 |
| Chace, DH; Heales, SJ; Kahler, SG; Millington, DS; Roe, CR; Roe, DS; Van Hove, JL | 1 |
| Bennett, MJ; Berry, GT; Hale, DE; Stanley, CA; Treem, WR; Willi, SM | 1 |
| Hoppel, CL; Minkler, PE | 1 |
| Fries, MH; Jurecki, E; Packman, S; Rinaldo, P; Schmidt-Sommerfeld, E | 1 |
| al Ashwal, A; al Saif, R; Attia, N; Ozand, PT; Rashed, M; Sakati, N | 1 |
| Ito, T; Itoh, T; Kidouchi, K; Mizuguchi, K; Ohba, S; Sugiyama, N; Yamaguchi, S | 1 |
| Berkovitz, M; Lerman-Sagie, T; Sela, BA | 1 |
| Chalmers, RA; Harrison, EL; Jones, MG; Lee, PJ; Leonard, JV; Whipp, BJ | 1 |
| Vockley, J; Volchenboum, SL | 1 |
| Liammongkolkul, S; Naylor, EW; Wasant, P | 1 |
| Matsubara, Y | 1 |
| Ogier de Baulny, H; Saudubray, JM | 1 |
| Kodama, H; Uasa, S | 1 |
| Bardet, J; Kamoun, P; Parvy, P; Rabier, D; Saudubray, JM | 1 |
| Tanaka, K | 1 |
| Chalmers, RA; Hind, AJ; Iles, RA | 1 |
| Pollitt, RJ | 1 |
| Goodman, SI; Hack, AM; Hine, DG; Tanaka, K | 1 |
| Hyman, DB; Tanaka, K | 1 |
| Ikeda, Y; Keese, SM; Tanaka, K | 1 |
| Bradley, D; Chalmers, RA; de Sousa, C; Stacey, TE; Tracey, BM; Weaver, C | 1 |
| Bradley, D; Chalmers, RA; de Sousa, C; Stacey, TE; Tracey, BM; Weaver, CM | 1 |
| Algert, S; Kelts, DG; Nyhan, WL; Prodanos, C; Wolff, JA | 1 |
2 review(s) available for isovaleric acid and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
[Acidemia, isovaleric].
Topics: Amino Acid Metabolism, Inborn Errors; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids | 2001 |
Branched-chain organic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Diagnosis, Differential; Glycine; Hemiterpenes; Humans; Infant, Newborn; Malonates; Maple Syrup Urine Disease; Methylmalonic Acid; Pentanoic Acids; Prognosis; Propionates | 2002 |
50 other study(ies) available for isovaleric acid and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Asymptomatic Diseases; Carnitine; Child; Child, Preschool; Chronic Disease; Creatinine; Female; Fibroblasts; Gene Expression; Genetic Association Studies; Genotype; Glycine; Hemiterpenes; Humans; Infant; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Male; Mutation; Neonatal Screening; Pentanoic Acids; Phenotype; Prevalence; Spain | 2017 |
Different outcome in isovaleric acidemia might be related to unsatisfactory diet compliance.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Diet, Protein-Restricted; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Leucine; Male; Patient Compliance; Pentanoic Acids | 2008 |
Abnormal tricarboxylic acid cycle metabolites in isovaleric acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Case-Control Studies; Child, Preschool; Citric Acid Cycle; Gas Chromatography-Mass Spectrometry; Hemiterpenes; Humans; Infant; Infant, Newborn; Models, Biological; Pentanoic Acids; Spectrometry, Mass, Electrospray Ionization | 2009 |
A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; DNA Polymerase I; Founder Effect; Hemiterpenes; Humans; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Male; Mutation, Missense; Pentanoic Acids; Tandem Mass Spectrometry | 2010 |
Chronic intermittent form of isovaleric acidemia mimicking diabetic ketoacidosis.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child; Chronic Disease; Diabetic Ketoacidosis; Diagnosis, Differential; Female; Hemiterpenes; Humans; Hyperglycemia; Pentanoic Acids; Treatment Outcome | 2010 |
Molecular defect of isovaleryl-CoA dehydrogenase in the skunk mutant of silkworm, Bombyx mori.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Substitution; Animals; Blotting, Northern; Bombyx; Cloning, Molecular; Enzyme Assays; Gene Expression Profiling; Hemiterpenes; Humans; Insect Proteins; Isovaleryl-CoA Dehydrogenase; Models, Molecular; Molecular Sequence Data; Mutant Proteins; Mutation; Odorants; Pentanoic Acids; Phenotype; Protein Conformation; Reverse Transcriptase Polymerase Chain Reaction; Sequence Analysis, DNA; Sequence Homology, Amino Acid; Substrate Specificity | 2010 |
Isovaleric acidaemia: cranial CT and MRI findings.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Female; Hemiterpenes; Humans; Infant; Isovaleryl-CoA Dehydrogenase; Leucine; Magnetic Resonance Imaging; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Tomography, X-Ray Computed | 2004 |
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 |
Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia.
Topics: Acetates; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biomarkers; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Spectrometry, Mass, Electrospray Ionization | 2005 |
Amino-acid depletion induced by abnormal amino-acid conjugation and protein restriction in isovaleric acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Diet, Protein-Restricted; Dietary Proteins; Hemiterpenes; Humans; Infant, Newborn; Pentanoic Acids; Spectrometry, Mass, Electrospray Ionization; Treatment Outcome | 2007 |
Hyperammonaemia in a preterm infant with isovaleric acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Glycine; Hemiterpenes; Humans; Infant, Newborn; Infant, Premature; Pentanoic Acids; Valerates | 1984 |
Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.
Topics: Acids; Amino Acid Metabolism, Inborn Errors; Diuresis; Exchange Transfusion, Whole Blood; Hemiterpenes; Humans; Infant, Newborn; Maple Syrup Urine Disease; Methylmalonic Acid; Pentanoic Acids; Peritoneal Dialysis; Propionates | 1984 |
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
Topics: Acyl-CoA Dehydrogenases; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Carnitine; Child; Child, Preschool; Female; Hemiterpenes; Humans; Infant; Infant, Newborn; Lysine; Male; Methylmalonic Acid; Middle Aged; Pentanoic Acids; Propionates | 1984 |
L-carnitine therapy in isovaleric acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Chromatography, Ion Exchange; Glycine; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Male; Mass Spectrometry; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Valerates | 1984 |
Profiles of urinary volatiles from metabolic disorders characterized by unusual odors.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Flame Ionization; Hemiterpenes; Humans; Infant, Newborn; Maple Syrup Urine Disease; Methylamines; Pentanoic Acids; Phenylketonurias; Valerates | 1983 |
[Isovaleric aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Hemiterpenes; Humans; Infant; Infant, Newborn; Leucine; Male; Pentanoic Acids; Valerates | 1983 |
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Cell Fusion; Cell Line; Fibroblasts; Glutarates; Hemiterpenes; Humans; Oxidation-Reduction; Pentanoic Acids; Polyethylene Glycols; Valerates | 1983 |
Isovalerylglucuronide, a new urinary metabolite in isovaleric acidemia. Identification problems due to rearrangement reactions.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Glucuronates; Hemiterpenes; Humans; Hydrogen-Ion Concentration; Pentanoic Acids; Valerates | 1983 |
Neonatal lethargy due to isovaleric acidemia and hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Hemiterpenes; Humans; Infant, Newborn; Male; Pentanoic Acids; Sleep Stages; Valerates | 1984 |
Isovalericacidemia appearing as diabetic ketoacidosis.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diabetic Ketoacidosis; Diagnosis, Differential; Hemiterpenes; Humans; Hyperglycemia; Pentanoic Acids; Valerates | 1981 |
Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Cataract; Child; Dwarfism; Female; Glycine; Hemiterpenes; Humans; Intellectual Disability; Pentanoic Acids; Valerates | 1982 |
Neonatal isovaleric acidemia associated with hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Hemiterpenes; Humans; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Liver; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Urea; Valerates | 1982 |
Nonenzymic protein modification: a general phenomenon?
Topics: Acyl Coenzyme A; Acylation; Amino Acid Metabolism, Inborn Errors; Hemiterpenes; Humans; Pentanoic Acids; Propionates; Protein Conformation; Proteins | 1982 |
Changing plasma and urinary organic acid levels in a patient with isovaleric acidemia during an attack.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Glycine; Hemiterpenes; Humans; Hydroxybutyrates; Leucine; Pentanoic Acids; Valerates | 1982 |
[Isovaleric acidemia: identical biochemical picture in 3 patients with variable clinical manifestations].
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Child; Child, Preschool; Female; Fibroblasts; Glycine; Hemiterpenes; Humans; Infant; Infant, Newborn; Leucine; Male; Oxidation-Reduction; Pentanoic Acids; Valerates | 1982 |
Hyperammonemia secondary to hereditary organic acidurias: a study of 29 cases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Hemiterpenes; Humans; Infant, Newborn; Methylmalonic Acid; Pentanoic Acids; Propionates; Urea | 1982 |
3-Hydroxyisoheptanoic acid: a new metabolite in isovaleric acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Gas Chromatography-Mass Spectrometry; Hemiterpenes; Heptanoic Acids; Humans; Magnetic Resonance Spectroscopy; Pentanoic Acids; Valerates | 1981 |
Excretion of N-isovalerylglutamic acid in isovaleric acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Gas Chromatography-Mass Spectrometry; Glutamates; Hemiterpenes; Humans; Pentanoic Acids; Valerates | 1981 |
The pancytopenia of isovaleric acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Bone Marrow Examination; Female; Hematopoietic Stem Cells; Hemiterpenes; Humans; Infant, Newborn; Leucine; Male; Pancytopenia; Pentanoic Acids; Valerates | 1980 |
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia.
Topics: Acetylcarnitine; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Female; Hemiterpenes; Humans; Injections, Intravenous; Lipid Metabolism, Inborn Errors; Pentanoic Acids; Safety | 1994 |
Renal handling of carnitine in secondary carnitine deficiency disorders.
Topics: Acyl Coenzyme A; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Female; Hemiterpenes; Humans; Infant; Kidney; Male; Methylmalonic Acid; Mitochondria; Oxidation-Reduction; Pentanoic Acids | 1993 |
Quantification of carnitine and specific acylcarnitines by high-performance liquid chromatography: application to normal human urine and urine from patients with methylmalonic aciduria, isovaleric acidemia or medium-chain acyl-CoA dehydrogenase deficiency
Topics: Acetophenones; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Chromatography, High Pressure Liquid; Female; Hemiterpenes; Humans; Indicators and Reagents; Infant; Methylmalonic Acid; Pentanoic Acids | 1993 |
Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Female; Glycine; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Leucine; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids | 1996 |
Isovaleric acidemia appearing as diabetic ketoacidosis.
Topics: Amino Acid Metabolism, Inborn Errors; Diabetic Ketoacidosis; Female; Gas Chromatography-Mass Spectrometry; Hemiterpenes; Humans; Infant; Isovaleryl-CoA Dehydrogenase; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids | 1996 |
Effect of carnitine administration on glycine metabolism in patients with isovaleric acidemia: significance of acetylcarnitine determination to estimate the proper carnitine dose.
Topics: Acetylcarnitine; Administration, Oral; Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Child, Preschool; Female; Glycine; Hemiterpenes; Humans; Injections, Intravenous; Leucine; Male; Pentanoic Acids | 1996 |
[Carnitine deficiency in inborn errors of metabolism].
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Fatty Acid Desaturases; Female; Glutarates; Hemiterpenes; Humans; Infant; Male; Pentanoic Acids | 1997 |
Improvement in exercise tolerance in isovaleric acidaemia with L-carnitine therapy.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Exercise; Female; Hemiterpenes; Humans; Leucine; Pentanoic Acids | 1998 |
Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase.
Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Biological Transport; Enzyme Stability; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Leucine; Mitochondria; Models, Molecular; Molecular Sequence Data; Mutation; Open Reading Frames; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Protein Conformation; Protein Processing, Post-Translational; Sequence Homology, Amino Acid | 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 |
Isotachophoretic analysis of isovalerylglycine in urine of a patient with isovaleric acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Dipeptides; Electrophoresis; Hemiterpenes; Humans; Pentanoic Acids; Valerates | 1979 |
Alloisoleucine in isovaleric acidaemia.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Amino Acid Metabolism, Inborn Errors; Child, Preschool; Hemiterpenes; Humans; Infant; Isoleucine; Ketone Oxidoreductases; Multienzyme Complexes; Pentanoic Acids | 1992 |
Isovaleric acidemia: personal history, clinical survey and study of the molecular basis.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Cell Line; Child, Preschool; Female; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Leucine; Male; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Prognosis; Valerates | 1990 |
Use of proton nuclear magnetic resonance spectroscopy in detection and study of organic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Carboxylic Acids; Child, Preschool; Glutarates; Hemiterpenes; Humans; Magnetic Resonance Spectroscopy; Male; Maple Syrup Urine Disease; Methylmalonic Acid; Pentanoic Acids; Propionates; Protons | 1985 |
Endogenous catabolism as source of toxic metabolites in isovaleric acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Hemiterpenes; Humans; Leucine; Pentanoic Acids; Valerates | 1987 |
Stable isotope dilution analysis of isovalerylglycine in amniotic fluid and urine and its application for the prenatal diagnosis of isovaleric acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Gas Chromatography-Mass Spectrometry; Glycine; Hemiterpenes; Humans; Pentanoic Acids; Pregnancy; Prenatal Diagnosis; Risk; Valerates | 1986 |
Isovaleryl-CoA dehydrogenase activity in isovaleric acidemia fibroblasts using an improved tritium release assay.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Fibroblasts; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Kinetics; Leucine; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Skin; Tritium; Valerates | 1986 |
Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Electrophoresis, Polyacrylamide Gel; Fibroblasts; Genetic Carrier Screening; Genetic Variation; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Methionine; Molecular Weight; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Valerates | 1985 |
L-carnitine and glycine therapy in isovaleric acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Female; Glycine; Hemiterpenes; Humans; Pentanoic Acids; Valerates | 1985 |
The response to L-carnitine and glycine therapy in isovaleric acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Carboxylic Acids; Carnitine; Child, Preschool; Combined Modality Therapy; Drug Therapy, Combination; Female; Glycine; Hemiterpenes; Humans; Pentanoic Acids; Valerates | 1986 |
Alanine decreases the protein requirements of infants with inborn errors of amino acid metabolism.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Weight; Dietary Proteins; Female; Hemiterpenes; Humans; Infant; Male; Methylmalonic Acid; Ornithine Carbamoyltransferase Deficiency Disease; Pentanoic Acids; Propionates; Proteins | 1985 |