isoleucine has been researched along with Inborn Errors of Metabolism in 22 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 12 (54.55) | 18.7374 |
1990's | 7 (31.82) | 18.2507 |
2000's | 2 (9.09) | 29.6817 |
2010's | 1 (4.55) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Sass, JO | 1 |
Clark, GD; Kim, J; O'Brien, WE; Sutton, VR; Wanders, RJ | 1 |
Goodman, SI; Markey, SP | 1 |
Bardet, J; Coudé, FX; Grimber, G; Parvy, P; Pham Dinh, D; Saudubray, JM | 1 |
Barshop, BA; Capistrano-Estrada, S; Jones, KL; Marsden, D; Nyhan, WL; Prodanos, C; Rice, M; Sartoris, D; Spector, S; Wolff, J | 1 |
Adam, BW; Chace, DH; Hillman, SL; Kahler, SG; Levy, HL; Millington, DS | 1 |
Civallero, GE; de Boldini, CD; de Kremer, RD; Kelley, RI | 1 |
Fukao, T | 1 |
Clarke, JT; Fisher, L; Lehotay, DC; Nowaczyk, MJ; Phillips, H; Platt, BA; Tan, R | 1 |
Al Amoudi, M; Al Essa, M; Al Jishi, E; Joshi, S; Jumaah, S; Ozand, PT; Rahbeeni, Z; Rashed, MS | 1 |
Allen, J; Dudley, J; McGraw, M; Tizard, J | 1 |
Brivet, M; Roe, CR; Roe, DS; Sweetman, L | 1 |
Lebowitz, J; Morrow, G; Revsin, B | 1 |
Daish, P; Leonard, JV | 1 |
Balgobin, L; Barnes, ND; Gompertz, D; Hull, D | 1 |
Ando, T; Hull, D; Nyhan, WL; Rasmussen, K | 1 |
Ando, T; Fawcett, N; Julius, RL; Nyhan, WL; Rennert, OM | 1 |
Cohen, JL; Hillman, RE; Sowers, LH | 1 |
Iivanainen, M; Palo, J; Savolainen, H | 1 |
Chalmers, RA; Lawson, AM; Watts, RW | 1 |
Gompertz, D; Hoffbrand, AV | 1 |
Cloup, M; Fournet, JP; Saudubray, JM | 1 |
2 review(s) available for isoleucine and Inborn Errors of Metabolism
Article | Year |
---|---|
[Mitochondrial acetoacetyl-CoA thiolase deficiency].
Topics: Acetyl-CoA C-Acetyltransferase; Diagnosis, Differential; Humans; Isoleucine; Ketone Bodies; Metabolism, Inborn Errors; Mitochondria; Mutation; Prognosis | 1998 |
Methymalonic aciduria.
Topics: Child; Chromatography, Gas; Humans; Isoleucine; Isomerases; Liver; Malonates; Metabolism, Inborn Errors; Neurologic Manifestations; Propionates; Valine; Vitamin B 12 Deficiency | 1970 |
20 other study(ies) available for isoleucine and Inborn Errors of Metabolism
Article | Year |
---|---|
Disorders of the degradation of branched chain amino acids: what is new in clinics and laboratories?
Topics: Amino Acids, Branched-Chain; Animals; Germany; Humans; Isoleucine; Leucine; Metabolism, Inborn Errors; Mice; Societies, Medical; Valine | 2012 |
3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acids; Alcohol Oxidoreductases; Blindness, Cortical; Developmental Disabilities; Diet, Protein-Restricted; Epilepsies, Myoclonic; Humans; Infant; Isoleucine; Male; Metabolism, Inborn Errors | 2003 |
Diagnosis of organic acidemias by gas chromatography--mass spectrometry.
Topics: Acid-Base Imbalance; Gas Chromatography-Mass Spectrometry; Humans; Isoleucine; Leucine; Lysine; Metabolism, Inborn Errors; Tryptophan; Valine | 1981 |
Characterization of enzymatic deficiencies of branched chain amino-acid catabolism in human fibroblasts by genetic complementation.
Topics: Acetyl-CoA C-Acyltransferase; Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Cells, Cultured; Fibroblasts; Genetic Complementation Test; Humans; Isoleucine; Leucine; Metabolism, Inborn Errors; Mutation; Skin | 1983 |
Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways.
Topics: 3-Hydroxybutyric Acid; Adolescent; Age Determination by Skeleton; Bone Density; Child; Dietary Proteins; Growth; Growth Hormone; Humans; Hydroxybutyrates; Insulin-Like Growth Factor I; Isoleucine; Metabolism, Inborn Errors; Nitrogen; Propionates | 1994 |
Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry.
Topics: Blood Specimen Collection; Chromatography, High Pressure Liquid; Homocystinuria; Humans; Infant, Newborn; Isoleucine; Leucine; Mass Spectrometry; Metabolism, Inborn Errors; Methionine; Neonatal Screening; Paper; Sensitivity and Specificity | 1996 |
[Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in Argentina].
Topics: Acetyl-CoA C-Acyltransferase; Argentina; Female; Humans; Isoleucine; Ketone Bodies; Male; Metabolism, Inborn Errors; Mitochondria | 1997 |
Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism.
Topics: Administration, Oral; Brain; Cells, Cultured; Child, Preschool; Female; Fibroblasts; Glycine; Humans; Isoleucine; Malonates; Metabolism, Inborn Errors; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Succinates | 1998 |
Infectious complications of propionic acidemia in Saudia Arabia.
Topics: Acidosis; Humans; Infant; Infections; Isoleucine; Metabolism, Inborn Errors; Retrospective Studies; Saudi Arabia | 1998 |
Benign methylmalonic acidemia in a sibship with distal renal tubular acidosis.
Topics: Acidosis, Renal Tubular; Calcium; Failure to Thrive; Humans; Infant, Newborn; Isoleucine; Kidney Function Tests; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Propionates; Ultrasonography | 1998 |
Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids.
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 |
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Topics: Carboxy-Lyases; Fibroblasts; Glycine; Humans; In Vitro Techniques; Isoleucine; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Propionates; Valine | 1977 |
Evaluation of cofactor responsiveness.
Topics: Diet; Humans; Isoleucine; Metabolism, Inborn Errors; Propionates; Vitamins | 1985 |
Biotin-responsive propionicacidaemia.
Topics: Acidosis; Biotin; Carboxy-Lyases; Child, Preschool; Chromatography, Gas; Diet Therapy; Glycine; Humans; Isoleucine; Ketones; Ligases; Male; Metabolism, Inborn Errors; Phosphotransferases; Propionates | 1970 |
3-hydroxypropionate: significance of -oxidation of propionate in patients with propionic acidemia and methylmalonic acidemia.
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.
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 |
Inhibition of glycine oxidation in cultured fibroblasts by isoleucine.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Carbon Dioxide; Cells, Cultured; Fibroblasts; Glycine; Isoleucine; Metabolism, Inborn Errors; Oxidation-Reduction | 1973 |
Free amino acids and carbohydrates in the cerebrospinal fluid of 305 mentally retarded patients: a screening study.
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.
Topics: Butyrates; Chromatography, Gas; Citrates; Computers; Crotonates; Glycine; Isoleucine; Leucine; Malonates; Mass Spectrometry; Metabolism, Inborn Errors; Oxaloacetates; Propionates; Valine | 1974 |
[Value of peritoneal dialysis in the emergency treatment of metabolic diseases of constitutional origin revealed in the neonatal period].
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Blood Proteins; Diet Therapy; Female; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Isoleucine; Leucine; Male; Malonates; Metabolism, Inborn Errors; Neurologic Manifestations; Peritoneal Dialysis; Prognosis; Respiration, Artificial | 1971 |