hypoxanthine has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 22 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 9 (40.91) | 18.7374 |
| 1990's | 9 (40.91) | 18.2507 |
| 2000's | 4 (18.18) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Cheng, J; Hada, T; Matsui, K; Moriwaki, Y; Takahashi, S; Tsutsumi, Z; Tuneyoshi, K; Yamamoto, T | 1 |
| Prior, C; Puig, JG; Torres, RJ | 1 |
| Abdelmoula, J; Bahlous, A; Gasmi, M; Mohsni, A | 1 |
| Brolsma, MF; Goday, A; Morris, GS; Simmonds, HA | 1 |
| Buckley, BM; Fisher, RA; Simmonds, HA; Spencer, RE; Stutchbury, JH; Webster, DR; Wooder, M | 1 |
| Baltassat, P; Bory, C; Boulieu, R; Divry, P | 1 |
| Bory, C; Boulieu, R; Chantin, C | 3 |
| Gathof, BS; Gresser, U; Gross, M | 1 |
| Hayek, G; Jacomelli, G; Micheli, V; Pescaglini, M; Pompucci, G; Rocchigiani, M; Sestini, S | 1 |
| Jaeken, J; Van den Bergh, F; Van den Berghe, G; Vincent, MF | 1 |
| Fairbanks, L; Hughes, EF; Robinson, RO; Simmonds, HA | 1 |
| Wada, Y | 1 |
| Fujisawa, T; Hada, T; Kuroda, S; Maeda, M; Moriwaki, Y; Onishi, Y; Sakaguchi, K; Sakamoto, N; Teranishi, T; Toyoda, M; Yamamoto, T | 1 |
| Agbedana, OE; Hada, T; Higashino, K; Imanishi, H; Moriwaki, Y; Nanahoshi, M; Suda, M; Takahashi, S; Yamamoto, T | 1 |
| Fairbanks, LD; Simmonds, HA; Webster, DR | 1 |
| Harkness, RA; MacFadyen, IR; McCreanor, GM; Simpson, D | 1 |
| Benson, P; Maynard, J | 1 |
| Kamatani, N; Kitamura, M; Kojima, T; Nishina, T; Nishioka, K | 1 |
| Nakayama, DA; Valen, PA; Veum, JA; Wortmann, RL | 1 |
| Fox, IH; Jiménez, ML; Mateos, FA; Puig, JG | 1 |
2 review(s) available for hypoxanthine and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Adenylosuccinate lyase deficiency: an update.
Topics: Adenylosuccinate Lyase; Fibroblasts; Formates; Humans; Hypoxanthine; Hypoxanthines; Purine Nucleotides; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Values; Skin | 1994 |
[Overview on inborn errors of purine and pyrimidine metabolism].
Topics: Humans; Hypoxanthine; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors | 1998 |
20 other study(ies) available for hypoxanthine and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II.
Topics: Adult; Aldehyde Oxidase; Allopurinol; Antimetabolites; DNA Primers; DNA, Complementary; Duodenum; Female; Humans; Hypoxanthine; Immunoblotting; Intestinal Mucosa; Point Mutation; Purine-Pyrimidine Metabolism, Inborn Errors; Sulfurtransferases; Uric Acid; Xanthine Dehydrogenase; Xanthine Oxidase; Xanthines | 2003 |
Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients.
Topics: Adolescent; Adult; Allopurinol; Child; Child, Preschool; Follow-Up Studies; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Infant; Lesch-Nyhan Syndrome; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Spain; Uric Acid; Xanthine | 2006 |
[Recurrent urinary lithiasis revealing hereditary xanthinuria].
Topics: Adult; Calculi; Calorimetry; Child, Preschool; Chromatography, Gas; Female; Humans; Hypoxanthine; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Recurrence; Sodium Bicarbonate; Spectrophotometry, Infrared; Time Factors; Urolithiasis; Xanthine | 2007 |
Metabolism of deoxynucleosides by lymphocytes in long-term culture deficient in different purine enzymes.
Topics: Adenosine Deaminase Inhibitors; Cells, Cultured; Deoxyadenosines; Deoxyguanosine; Guanosine; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Lymphocytes; Purine-Nucleoside Phosphorylase; Purine-Pyrimidine Metabolism, Inborn Errors | 1984 |
Pregnancy in xanthinuria: demonstration of fetal uric acid production?
Topics: Adult; Female; Fetus; Humans; Hypoxanthine; Hypoxanthines; Middle Aged; Pregnancy; Pregnancy Complications; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Xanthine; Xanthines | 1984 |
Hypoxanthine and xanthine concentrations determined by high performance liquid chromatography in biological fluids from patients with xanthinuria.
Topics: Adult; Chromatography, High Pressure Liquid; Erythrocytes; Female; Humans; Hypoxanthine; Hypoxanthines; Infant; Infant, Newborn; Male; Middle Aged; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Xanthine; Xanthines | 1984 |
Abnormal purine and pyrimidine metabolism in inherited superactivity of PRPP synthetase.
Topics: Adenine Nucleotides; Allopurinol; Child; Erythrocytes; Female; Guanine Nucleotides; Humans; Hypoxanthine; Hypoxanthines; Inosine; Male; NAD; Nuclear Family; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Values; Ribonucleotides; Ribose-Phosphate Pyrophosphokinase; Uric Acid; Uridine; Uridine Diphosphate Glucose; Xanthine; Xanthines | 1994 |
Normal hypoxanthine and ammonia release from working muscle in partial HPRT deficiency.
Topics: Ammonia; Exercise Test; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Ischemia; Kinetics; Lactates; Male; Muscle, Skeletal; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Values | 1994 |
Altered pyridine metabolism in the erythrocytes of a mentally retarded infant with partial HPRT deficiency.
Topics: Adenine; Carbon Radioisotopes; Child; Erythrocytes; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Infant; Intellectual Disability; Male; NAD; NADP; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines; Radioisotope Dilution Technique; Reference Values; Ribonucleotides | 1994 |
Comparison of capillary electrophoretic and liquid chromatographic determination of hypoxanthine and xanthine for the diagnosis of xanthinuria.
Topics: Chromatography, High Pressure Liquid; Electrophoresis, Capillary; Humans; Hypoxanthine; Hypoxanthines; Purine-Pyrimidine Metabolism, Inborn Errors; Xanthine; Xanthines | 1996 |
Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant.
Topics: Age of Onset; Behavioral Symptoms; Brain; Child; Diagnosis, Differential; Family Relations; Female; Humans; Hypoxanthine; Infant; Lens Subluxation; Magnetic Resonance Imaging; Molybdenum; Oxidoreductases Acting on Sulfur Group Donors; Phenotype; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Xanthine | 1998 |
Capillary electrophoretic analysis of hypoxanthine and xanthine for the diagnosis of xanthinuria.
Topics: Adult; Biomarkers; Electrophoresis, Capillary; Humans; Hypoxanthine; Infant, Newborn; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Values; Xanthine | 1998 |
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria.
Topics: Allopurinol; Humans; Hypoxanthine; Male; Middle Aged; Oxypurinol; Point Mutation; Purine-Pyrimidine Metabolism, Inborn Errors; Sequence Analysis, DNA; Xanthine; Xanthine Dehydrogenase | 2001 |
A xanthinuric family--the proposita having immunologically reactive xanthine oxidase but no xanthine oxidase activity.
Topics: Female; Humans; Hypoxanthine; Hypoxanthines; Immunodiffusion; Liver; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Values; Xanthine; Xanthine Oxidase; Xanthines | 1991 |
Usefulness of intact erythrocyte studies in the diagnosis of inherited purine and pyrimidine defects.
Topics: Adenine; Carbon Radioisotopes; Chromatography, High Pressure Liquid; Deoxyadenosines; Erythrocytes; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Orotic Acid; Phosphoribosyl Pyrophosphate; Purine-Pyrimidine Metabolism, Inborn Errors; Radioisotope Dilution Technique | 1986 |
Pregnancy in and incidence of xanthine oxidase deficiency.
Topics: Female; Fetal Blood; Humans; Hypoxanthine; Hypoxanthines; Infant, Newborn; Pregnancy; Pregnancy Complications; Purine-Pyrimidine Metabolism, Inborn Errors; Xanthine Oxidase; Xanthines | 1986 |
Hereditary xanthinuria in 2 Pakistani sisters: asymptomatic in one with beta-thalassemia but causing xanthine stone, obstructive uropathy and hypertension in the other.
Topics: Child, Preschool; Female; Humans; Hydronephrosis; Hypertension, Renal; Hypoxanthine; Hypoxanthines; Purine-Pyrimidine Metabolism, Inborn Errors; Thalassemia; Ureteral Calculi; Uric Acid; Xanthines | 1988 |
Liquid chromatography with multichannel ultraviolet detection used for studying disorders of purine metabolism.
Topics: Adenine; Allopurinol; Chromatography, High Pressure Liquid; Humans; Hypoxanthine; Hypoxanthines; Inosine; Oxypurinol; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Spectrophotometry, Ultraviolet; Uric Acid; Uridine; Xanthine; Xanthines | 1987 |
Myoadenylate deaminase deficiency: diagnosis by forearm ischemic exercise testing.
Topics: Adenosine; Adult; Ammonia; AMP Deaminase; Humans; Hypoxanthine; Hypoxanthines; Inosine; Ischemia; Lactates; Nucleotide Deaminases; Physical Exertion; Purine-Pyrimidine Metabolism, Inborn Errors | 1986 |
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage.
Topics: Adenine; Adenine Nucleotides; Adolescent; Adult; Female; Fructose; Guanosine; Humans; Hypoxanthine; Hypoxanthines; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Uric Acid; Xanthine; Xanthine Oxidase; Xanthines | 1987 |