xanthine has been researched along with Metabolism, Inborn Errors in 13 studies
7H-xanthine : An oxopurine in which the purine ring is substituted by oxo groups at positions 2 and 6 and N-7 is protonated.
9H-xanthine : An oxopurine in which the purine ring is substituted by oxo groups at positions 2 and 6 and N-9 is protonated.
Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (7.69) | 18.7374 |
| 1990's | 4 (30.77) | 18.2507 |
| 2000's | 2 (15.38) | 29.6817 |
| 2010's | 6 (46.15) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Sebesta, I | 1 |
| Stiburkova, B | 1 |
| Krijt, J | 1 |
| Grases, F | 1 |
| Costa-Bauza, A | 1 |
| Roig, J | 1 |
| Rodriguez, A | 1 |
| Därr, RW | 1 |
| Lenzner, S | 1 |
| Eggermann, T | 2 |
| Därr, WH | 1 |
| Fujiwara, Y | 1 |
| Kawakami, Y | 1 |
| Shinohara, Y | 1 |
| Ichida, K | 2 |
| Amaya, Y | 1 |
| Okamoto, K | 1 |
| Nishino, T | 1 |
| Spengler, S | 1 |
| Denecke, B | 1 |
| Zerres, K | 1 |
| Mache, CJ | 1 |
| van Gennip, AH | 1 |
| Mandel, H | 1 |
| Stroomer, LE | 1 |
| van Cruchten, AG | 1 |
| Chu, TS | 1 |
| Bonioli, E | 1 |
| DiStefano, A | 1 |
| Palmieri, A | 1 |
| Bertola, A | 1 |
| Bellini, C | 1 |
| Caruso, U | 1 |
| Fantasia, AR | 1 |
| Minniti, G | 1 |
| Dorche, C | 1 |
| Mayaudon, H | 1 |
| Burnat, P | 1 |
| Eulry, F | 1 |
| Payen, C | 1 |
| Dupuy, O | 1 |
| Ducorps, M | 1 |
| Bauduceau, B | 1 |
| Snyder, FF | 1 |
| Yuan, RG | 1 |
| Bin, JC | 1 |
| Carter, KL | 1 |
| McKay, DJ | 1 |
| Latini, A | 1 |
| Larovere, L | 1 |
| de Kremer, RD | 1 |
| Roesel, RA | 1 |
| Bowyer, F | 1 |
| Blankenship, PR | 1 |
| Hommes, FA | 1 |
1 review available for xanthine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.
Topics: Aldehyde Oxidase; Animals; Diagnosis, Differential; Enzyme Activation; Genetic Association Studies; | 2012 |
12 other studies available for xanthine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Hereditary xanthinuria is not so rare disorder of purine metabolism.
Topics: Adult; Aldehyde Oxidase; Allopurinol; Child; Child, Preschool; Czech Republic; Diagnosis, Differenti | 2018 |
Xanthine urolithiasis: Inhibitors of xanthine crystallization.
Topics: Aldehyde Oxidase; Chemical Precipitation; Crystallization; Down-Regulation; Humans; In Vitro Techniq | 2018 |
[Xanthinuria type 1 in a woman with arthralgias: a combined clinical and molecular genetic investigation].
Topics: Arthralgia; Female; Humans; Hypoxanthine; Metabolism, Inborn Errors; Middle Aged; Xanthine; Xanthine | 2016 |
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi.
Topics: Aged; Amino Acid Sequence; Base Sequence; Codon, Nonsense; DNA Mutational Analysis; Female; Humans; | 2012 |
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.
Topics: Adolescent; Base Sequence; DNA; Exons; Humans; Male; Metabolism, Inborn Errors; Point Mutation; Sequ | 2013 |
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency.
Topics: Allopurinol; Coenzymes; Female; Humans; Male; Metabolism, Inborn Errors; Metalloproteins; Molybdenum | 1994 |
Hereditary xanthinuria: report of two cases.
Topics: Adult; Female; Humans; Male; Metabolism, Inborn Errors; Xanthine; Xanthine Oxidase; Xanthines | 1993 |
Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor.
Topics: Coenzymes; Female; Fibroblasts; Humans; Hypoxanthine; Infant; Metabolism, Inborn Errors; Metalloprot | 1996 |
[Hereditary xanthinuria, rare cause of hypo-uric acidemia. 2 cases].
Topics: Adult; Aged; Chromosome Aberrations; Chromosome Disorders; Female; Genes, Recessive; Humans; Kidney | 1998 |
Human guanine deaminase: cloning, expression and characterisation.
Topics: Animals; Cloning, Molecular; Gene Expression; Guanine; Guanine Deaminase; Humans; Metabolism, Inborn | 2000 |
Purines, lactate and myo-inositol in CSF might reflect excitotoxicity in inherited metabolic disorders.
Topics: Child; Child, Preschool; Glutamic Acid; Humans; Hypoxanthine; Infant; Inositol; Lactates; Metabolism | 2000 |
Combined xanthine and sulphite oxidase defect due to a deficiency of molybdenum cofactor.
Topics: Coenzymes; Humans; Infant, Newborn; Liver; Male; Metabolism, Inborn Errors; Metalloproteins; Molybde | 1986 |