Page last updated: 2024-08-17

aspartic acid and Inborn Errors of Metabolism

aspartic acid has been researched along with Inborn Errors of Metabolism in 33 studies

Research

Studies (33)

Timeframe	Studies, this research(%)	All Research%
pre-1990	26 (78.79)	18.7374
1990's	2 (6.06)	18.2507
2000's	2 (6.06)	29.6817
2010's	1 (3.03)	24.3611
2020's	2 (6.06)	2.80

Authors

Authors	Studies
Borst, P	1
Broeks, MH; Jans, JJM; van Karnebeek, CDM; Verhoeven-Duif, NM; Wanders, RJA	1
Achten, J; Berry, GT; Bierau, J; Coelho, AI; Demirbas, D; Derks, B; Haskovic, M; Huang, X; Mackinnon, S; Nyakayiru, J; Peake, RWA; Qi, W; Rubio-Gozalbo, ME; Trommelen, J; van der Ploeg, L; van Loon, LJC; Yue, WW; Zha, L	1
Berry, GT; Jan, W; Kaplan, PB; Kaye, EM; Wang, ZJ; Zimmerman, RA	1
Amorini, AM; Bellia, F; Ceccarelli, L; Di Pietro, V; Donzelli, S; Francis, JS; Giardina, B; Janson, CG; Lazzarino, G; Leone, P; Tavazzi, B	1
Fujii, H; Krietsch, WK; Yoshida, A	1
Bruhn, H; Frahm, J; Hanefeld, F; Kruse, B	1
Ernst, S; Heindel, W; Kugel, H; Lackner, K; Roth, B	1
Isenberg, JN; Sharp, HL	1
Gilmour, L; Smith, LH	1
Divry, P; Mathieu, M	1
Chalmers, RA; Duffy, S; Harkness, RA; Jones, M; Purkiss, P	1
Aula, P; Karjalainen, O	1
Jenner, FA; Merskey, H; Pollitt, RJ	1
Palo, J; Savolainen, H	3
Autio, S; Järvinen, H; Visakorpi, JK	1
Aula, P; Autio, S; Näntö, V	1
Pollitt, RJ; Pretty, KM	1
Ghadimi, H; Kumar, S	1
Szám, I	1
de Groot, CJ; Hommes, FA	1
Jenner, FA	1
Aula, P; Autio, S; Laipio, ML; Näntö, V	1
Autio, S; Palo, J	2
Daniel, WL; Higgins, JV	1
Mattsson, K; Palo, J	2
Baumgartner, R; Hottinger, A; Scheidegger, S; Stalder, G	1
Greer, M; Sprinkle, T; Williams, CM	1
Jenner, FA; Pollitt, RJ	1

Reviews

4 review(s) available for aspartic acid and Inborn Errors of Metabolism

Article	Year
The malate-aspartate shuttle (Borst cycle): How it started and developed into a major metabolic pathway. IUBMB life, 2020, Volume: 72, Issue:11 Topics: Animals; Aspartate Aminotransferases; Aspartic Acid; Cell Respiration; Humans; Malate Dehydrogenase; Malates; Metabolism, Inborn Errors; Mitochondria; Mutation	2020
Inborn disorders of the malate aspartate shuttle. Journal of inherited metabolic disease, 2021, Volume: 44, Issue:4 Topics: Animals; Aspartate Aminotransferases; Aspartic Acid; Cell Respiration; Humans; Infant; Malate Dehydrogenase; Malates; Metabolism, Inborn Errors; Mitochondria; Spasms, Infantile	2021
Current status of monosodium glutamate. The American journal of clinical nutrition, 1972, Volume: 25, Issue:7 Topics: Acetylcholine; Animals; Aspartic Acid; Central Nervous System; Cholinesterases; Deficiency Diseases; Evaluation Studies as Topic; Food Additives; Glutamates; Humans; Metabolism, Inborn Errors; Sodium	1972
[Hyperammoniemia and its treatment]. Orvosi hetilap, 1973, Oct-28, Volume: 114, Issue:43 Topics: Ammonia; Arginine; Aspartic Acid; Humans; Ketoglutaric Acids; Liver; Malates; Metabolism, Inborn Errors; Ornithine; Orotic Acid	1973

Other Studies

29 other study(ies) available for aspartic acid and Inborn Errors of Metabolism

Article	Year
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Orphanet journal of rare diseases, 2018, 11-26, Volume: 13, Issue:1 Topics: Arginine; Aspartic Acid; Cells, Cultured; Fibroblasts; Galactose; Galactosemias; Humans; Metabolism, Inborn Errors; Mutation; Retrospective Studies	2018
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology, 2003, Volume: 45, Issue:6 Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Amino Acids, Branched-Chain; Aspartic Acid; Basal Ganglia; Biomarkers; Brain Stem; Cerebellum; Cerebral Cortex; Creatine; Diffusion Magnetic Resonance Imaging; Female; Follow-Up Studies; Humans; Infant; Infant Welfare; Infant, Newborn; Ketone Oxidoreductases; Lactic Acid; Magnetic Resonance Spectroscopy; Male; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Multienzyme Complexes; Phosphocreatine; Radiography; Statistics as Topic; Time Factors	2003
Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clinical biochemistry, 2005, Volume: 38, Issue:11 Topics: Adolescent; Adult; Amino Acids; Amniotic Fluid; Aspartic Acid; Canavan Disease; Child; Child, Preschool; Chromatography, High Pressure Liquid; Dicarboxylic Acids; Humans; Infant; Mass Screening; Metabolism, Inborn Errors; Middle Aged; Prenatal Diagnosis; Purines; Pyrimidines; Reproducibility of Results; Sensitivity and Specificity; Spectrophotometry, Ultraviolet	2005
A single amino acid substitution (Asp leads to Asn) in a phosphoglycerate kinase variant (PGK München) associated with enzyme deficiency. The Journal of biological chemistry, 1980, Jul-10, Volume: 255, Issue:13 Topics: Amino Acid Sequence; Amino Acids; Asparagine; Aspartic Acid; Erythrocytes; Genetic Variation; Humans; Metabolism, Inborn Errors; Peptides; Phosphoglycerate Kinase	1980
In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia. Pediatric research, 1994, Volume: 35, Issue:5 Topics: Adolescent; Aspartic Acid; Biomarkers; Brain; Female; Glutarates; Humans; Inositol; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Metabolism, Inborn Errors; Nerve Degeneration	1994
Proton MR spectroscopy in infants with cerebral energy deficiency due to hypoxia and metabolic disorders. Acta radiologica (Stockholm, Sweden : 1987), 1998, Volume: 39, Issue:6 Topics: Aspartic Acid; Basal Ganglia; Brain; Brain Diseases, Metabolic; Child, Preschool; Follow-Up Studies; Humans; Hypoxia; Infant; Lactic Acid; Magnetic Resonance Imaging; Metabolism, Inborn Errors; Methylamines; Oxidative Phosphorylation; Protons; Severity of Illness Index	1998
Aspartylglucosaminuria: psychomotor retardation masquerading as a mucopolysaccharidosis. The Journal of pediatrics, 1975, Volume: 86, Issue:5 Topics: Amidohydrolases; Aminoglycosides; Aspartic Acid; Child, Preschool; Chromatography, Thin Layer; Cleidocranial Dysplasia; Diagnosis, Differential; Facial Expression; Female; Glucosamine; Hepatomegaly; Humans; Joint Diseases; Leukocytes; Lymphocytes; Mass Screening; Metabolism, Inborn Errors; Mucopolysaccharidoses; Psychomotor Disorders; Splenomegaly; Vacuoles	1975
Determination of urinary carbamylaspartate and dihydro-orotate in normal subjects and in patients with hereditary orotic aciduria. The Journal of laboratory and clinical medicine, 1975, Volume: 86, Issue:6 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Child; Child, Preschool; Female; Humans; Male; Metabolism, Inborn Errors; Orotic Acid; Pyrimidines; Radioisotope Dilution Technique	1975
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. American journal of medical genetics, 1989, Volume: 32, Issue:4 Topics: Amidohydrolases; Aspartic Acid; Central Nervous System Diseases; Genes, Recessive; Humans; Metabolism, Inborn Errors; Nerve Degeneration	1989
The effects of fetal energy depletion on amniotic fluid concentrations of amino acids, organic acids and related metabolites. Journal of inherited metabolic disease, 1988, Volume: 11, Issue:1 Topics: Adenosine Triphosphate; Amino Acids; Amniotic Fluid; Arginine; Aspartic Acid; Asphyxia Neonatorum; Diagnosis, Differential; Female; Fetus; Humans; Hypoxanthine; Hypoxanthines; Infant, Newborn; Metabolism, Inborn Errors; Ornithine; Pregnancy; Uridine	1988
Prenatal karyotype analysis in high risk families. Annals of clinical research, 1973, Volume: 5, Issue:3 Topics: Aminohydrolases; Amniocentesis; Amniotic Fluid; Aspartic Acid; Cells, Cultured; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 13-15; Chromosomes, Human, 19-20; Chromosomes, Human, 21-22 and Y; Female; Glucosamine; Humans; Karyotyping; Maternal Age; Metabolism, Inborn Errors; Middle Aged; Pregnancy; Prenatal Diagnosis; Staining and Labeling; Trisomy	1973
Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect. Lancet (London, England), 1968, Aug-03, Volume: 2, Issue:7562 Topics: Adult; Asparagine; Aspartic Acid; Female; Glucosamine; Glucosidases; Glycoproteins; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Oligosaccharides; Peptide Hydrolases	1968
The proteins of human myelin in inborn errors of metabolism and in chromosomal anomalies. Acta neuropathologica, 1973, Mar-30, Volume: 24, Issue:1 Topics: Adolescent; Adult; Aspartic Acid; Autopsy; Brain; Child; Down Syndrome; Electrophoresis, Polyacrylamide Gel; Female; Glycosaminoglycans; Humans; Lipidoses; Male; Metabolism, Inborn Errors; Nerve Tissue Proteins; Neuroglia; Turner Syndrome	1973
Aspartylglycosaminuria (AGU). Further aspects on its clinical picture, mode of inheritance and epidemiology based on a series of 57 patients. Annals of clinical research, 1973, Volume: 5, Issue:3 Topics: Adolescent; Adult; Amidohydrolases; Aspartic Acid; Bone Marrow; Child; Child, Preschool; Consanguinity; Face; Female; Finland; Genes, Recessive; Glucosamine; Homozygote; Humans; Inclusion Bodies; Infant; Infant, Newborn; Intellectual Disability; Lymphocytes; Male; Metabolism, Inborn Errors; Osteochondritis; Radiography; Syndrome	1973
Biochemical diagnosis of aspartylglycosaminuria. Annals of clinical research, 1973, Volume: 5, Issue:3 Topics: Adult; Amidohydrolases; Aspartic Acid; Brain Chemistry; Chromatography, Thin Layer; Copper; Female; Gangliosides; Glucosamine; Glycoproteins; Glycosaminoglycans; Humans; Inclusion Bodies; Kidney; Liver; Lymphocytes; Male; Metabolism, Inborn Errors; Myelin Sheath; Nerve Tissue Proteins; Nickel; Oligosaccharides	1973
Cultured skin fibroblasts in disorders of glycoprotein catabolism and I-cell disease. Developmental medicine and child neurology, 1974, Volume: 16, Issue:3 Topics: Amidohydrolases; Aspartic Acid; Cells, Cultured; Clinical Enzyme Tests; Diagnosis, Differential; Fibroblasts; Galactosidases; Glucosamine; Glucosidases; Glycoproteins; Glycoside Hydrolases; Heterozygote; Hexosaminidases; Humans; Lysosomes; Mannose; Metabolism, Inborn Errors; Skin; Sulfatases	1974
The glycoasparagines in urine of a patient with aspartylglycosaminuria. The Biochemical journal, 1974, Volume: 141, Issue:1 Topics: Asparagine; Aspartic Acid; Chromatography, Gas; Chromatography, Gel; Chromatography, Ion Exchange; Electrophoresis, Paper; Female; Glucosamine; Glycopeptides; Glycosuria; Humans; Hydrogen-Ion Concentration; Metabolism, Inborn Errors; Models, Chemical	1974
The biochemistry of aspartylglycosaminurias. Acta neurologica Scandinavica. Supplementum, 1972, Volume: 51 Topics: Amidohydrolases; Aspartic Acid; Glucosamine; Humans; Metabolism, Inborn Errors	1972
Further speculation on the pathogenesis of Leigh's encephalomyelopathy. The Journal of pediatrics, 1973, Volume: 82, Issue:3 Topics: Aspartic Acid; Brain Stem; Citric Acid Cycle; Encephalomalacia; Humans; Intellectual Disability; Ligases; Metabolism, Inborn Errors; Psychomotor Disorders; Syndrome; Thiamine	1973
Medical research council unit for metabolic studies in psychiatry, Sheffield. Psychological medicine, 1973, Volume: 3, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Bipolar Disorder; Catatonia; Circadian Rhythm; Cysteine; Humans; Intellectual Disability; Lithium; Mass Spectrometry; Mental Disorders; Metabolism, Inborn Errors; Periodicity; Phenylketonurias; Sleep; Vasopressins	1973
Aspartylglucosaminuria: deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents. Clinical genetics, 1973, Volume: 4, Issue:3 Topics: Amidohydrolases; Aspartic Acid; Cells, Cultured; Chromatography, Ion Exchange; Chromatography, Paper; Female; Fibroblasts; Glucosamine; Heterozygote; Humans; Male; Metabolism, Inborn Errors	1973
Picture of the Month. Aspartylglucosaminuria. American journal of diseases of children (1960), 1974, Volume: 127, Issue:4 Topics: Adolescent; Aspartic Acid; Body Height; Child; Child, Preschool; Chromatography, Thin Layer; Chromosome Aberrations; Chromosome Disorders; Electrophoresis; Face; Female; Finland; Genes, Recessive; Glucosamine; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors	1974
[Aspartylglucosaminuria]. Duodecim; laaketieteellinen aikakauskirja, 1972, Volume: 88, Issue:1 Topics: Adolescent; Adult; Amidohydrolases; Aspartic Acid; Child; Child, Preschool; Female; Glucosamine; Humans; Infant; Intellectual Disability; Lysosomes; Male; Metabolism, Inborn Errors	1972
Biochemical and genetic investigation of the de Lange syndrome. American journal of diseases of children (1960), 1971, Volume: 121, Issue:5 Topics: Agammaglobulinemia; Alanine Transaminase; Aspartate Aminotransferases; Aspartic Acid; Blood Glucose; Cholesterol; De Lange Syndrome; Glutamates; Glutaminase; Humans; Immunoglobulin A; Immunoglobulin G; Ketoglutaric Acids; Metabolism, Inborn Errors; Phospholipids	1971
Chromatographic isolation of 2-acetamido-1-(beta'-L-aspartamido)-1,2-dideoxy-beta-D-glucose from urine. Journal of chromatography, 1970, Aug-12, Volume: 50, Issue:3 Topics: Amino Sugars; Aspartic Acid; Chromatography, Ion Exchange; Chromatography, Paper; Glucosamine; Metabolism, Inborn Errors	1970
Eleven new cases of aspartylglucosaminuria. Journal of mental deficiency research, 1970, Volume: 14, Issue:2 Topics: Abnormalities, Multiple; Acetamides; Adolescent; Adult; Aspartic Acid; Chromatography; Electroencephalography; Female; Glycosuria; Humans; Hyperkinesis; Intellectual Disability; Lymphocytes; Male; Metabolism, Inborn Errors	1970
[Argininosuccinic aciduria disease of the newborn with lethal course]. Helvetica paediatrica acta, 1968, Volume: 23, Issue:1 Topics: Adult; Alanine; Amino Acids; Aminobutyrates; Anticonvulsants; Aspartic Acid; Brain Diseases; Chromatography, Ion Exchange; Chromatography, Thin Layer; Erythrocytes; Female; Glutamine; Hepatomegaly; Humans; Infant, Newborn; Kidney Diseases; Lyases; Male; Metabolism, Inborn Errors; Myocardium; Seizures; Succinates; Transaminases	1968
Detection of argininosuccinic aciduria by gas chromatography. Clinica chimica acta; international journal of clinical chemistry, 1969, Volume: 23, Issue:1 Topics: Arginine; Aspartic Acid; Ataxia; Chemical Precipitation; Chromatography, Gas; Epilepsy; Esters; Humans; Hydrogen-Ion Concentration; Intellectual Disability; Liver Diseases; Metabolism, Inborn Errors; Methods; Ornithine; Spectrum Analysis; Succinates	1969
Enzymatic cleavage of 2-acetamido-1-(beta'-L-aspartamido)-1,2-dideoxy-beta-D-glucose by human plasma and seminal fluid. Failure to detect the heterozygous state for aspartylglycosaminuria. Clinica chimica acta; international journal of clinical chemistry, 1969, Volume: 25, Issue:3 Topics: Amides; Aspartic Acid; Carbohydrates; Chromatography, Gel; Chromatography, Ion Exchange; Dextrans; Enzymes; Female; Glycoproteins; Heterozygote; Hexosamines; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Methods; Semen	1969