isoleucine and Inborn Errors of Metabolism

isoleucine has been researched along with Inborn Errors of Metabolism in 22 studies

Research

Studies (22)

TimeframeStudies, this research(%)All Research%
pre-199012 (54.55)18.7374
1990's7 (31.82)18.2507
2000's2 (9.09)29.6817
2010's1 (4.55)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Sass, JO1
Clark, GD; Kim, J; O'Brien, WE; Sutton, VR; Wanders, RJ1
Goodman, SI; Markey, SP1
Bardet, J; Coudé, FX; Grimber, G; Parvy, P; Pham Dinh, D; Saudubray, JM1
Barshop, BA; Capistrano-Estrada, S; Jones, KL; Marsden, D; Nyhan, WL; Prodanos, C; Rice, M; Sartoris, D; Spector, S; Wolff, J1
Adam, BW; Chace, DH; Hillman, SL; Kahler, SG; Levy, HL; Millington, DS1
Civallero, GE; de Boldini, CD; de Kremer, RD; Kelley, RI1
Fukao, T1
Clarke, JT; Fisher, L; Lehotay, DC; Nowaczyk, MJ; Phillips, H; Platt, BA; Tan, R1
Al Amoudi, M; Al Essa, M; Al Jishi, E; Joshi, S; Jumaah, S; Ozand, PT; Rahbeeni, Z; Rashed, MS1
Allen, J; Dudley, J; McGraw, M; Tizard, J1
Brivet, M; Roe, CR; Roe, DS; Sweetman, L1
Lebowitz, J; Morrow, G; Revsin, B1
Daish, P; Leonard, JV1
Balgobin, L; Barnes, ND; Gompertz, D; Hull, D1
Ando, T; Hull, D; Nyhan, WL; Rasmussen, K1
Ando, T; Fawcett, N; Julius, RL; Nyhan, WL; Rennert, OM1
Cohen, JL; Hillman, RE; Sowers, LH1
Iivanainen, M; Palo, J; Savolainen, H1
Chalmers, RA; Lawson, AM; Watts, RW1
Gompertz, D; Hoffbrand, AV1
Cloup, M; Fournet, JP; Saudubray, JM1

Reviews

2 review(s) available for isoleucine and Inborn Errors of Metabolism

ArticleYear
[Mitochondrial acetoacetyl-CoA thiolase deficiency].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Acetyl-CoA C-Acetyltransferase; Diagnosis, Differential; Humans; Isoleucine; Ketone Bodies; Metabolism, Inborn Errors; Mitochondria; Mutation; Prognosis

1998
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

Other Studies

20 other study(ies) available for isoleucine and Inborn Errors of Metabolism

ArticleYear
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
3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:1

    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.
    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
Characterization of enzymatic deficiencies of branched chain amino-acid catabolism in human fibroblasts by genetic complementation.
    Biochemical and biophysical research communications, 1983, Jul-18, Volume: 114, Issue:1

    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.
    Biochemical medicine and metabolic biology, 1994, Volume: 52, Issue:2

    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.
    Clinical chemistry, 1996, Volume: 42, Issue:3

    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].
    Medicina, 1997, Volume: 57, Issue:1

    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.
    Metabolism: clinical and experimental, 1998, Volume: 47, Issue:7

    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.
    Clinical genetics, 1998, Volume: 54, Issue:1

    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.
    Pediatric nephrology (Berlin, Germany), 1998, Volume: 12, Issue:7

    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.
    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
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
Evaluation of cofactor responsiveness.
    Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 1

    Topics: Diet; Humans; Isoleucine; Metabolism, Inborn Errors; Propionates; Vitamins

1985
Biotin-responsive propionicacidaemia.
    Lancet (London, England), 1970, Aug-01, Volume: 2, Issue:7666

    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.
    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
Inhibition of glycine oxidation in cultured fibroblasts by isoleucine.
    Pediatric research, 1973, Volume: 7, Issue:12

    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.
    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
[Value of peritoneal dialysis in the emergency treatment of metabolic diseases of constitutional origin revealed in the neonatal period].
    Annales de medecine interne, 1971, Volume: 122, Issue:12

    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