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uridine and Purine Pyrimidine Metabolism, Inborn Errors

uridine has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 22 studies

Research

Studies (22)

Timeframe	Studies, this research(%)	All Research%
pre-1990	17 (77.27)	18.7374
1990's	1 (4.55)	18.2507
2000's	1 (4.55)	29.6817
2010's	3 (13.64)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Bierau, J; Garbade, SF; Haas, D; Hauke, J; Hoffmann, GF; Klinke, G; Langhans, CD; Monostori, P; Okun, JG; Richter, S	1
Alhaddad, B; Botto, LD; Chen, MA; Colombo, R; Coughlin, CR; Descartes, M; Grűnewald, S; Kluijtmans, LA; Maranda, B; Mills, PB; Pai, EF; Pitt, J; Pontoglio, A; Potente, C; Rodenburg, R; Sampath, S; Tiller, GE; Wevers, RA; Wortmann, SB; Yuzyuk, T	1
Bailey, CJ	1
BECROFT, DM; PHILLIPS, LI	1
KROOTH, RS	1
Haggard, ME; Lockhart, LH	1
Berman, P; Harley, EH	1
Evans, DI; Layward, L; Simmonds, HA; Watson, AR; Webster, DR	1
Bory, C; Boulieu, R; Chantin, C	1
de Bree, PK; Grift, J; Stoop, JW; van Gennip, AH; Wadman, SK; Zegers, BJ	1
Goldblum, RM; Mills, GC; Newkirk, KE; Schmalstieg, FC	1
Gröbner, W; Zöllner, N	1
Giblett, ER	1
Holt, JG; Nicolaisen, AK; Rogers, LE	1
Etzioni, A	1
Kamatani, N; Kitamura, M; Kojima, T; Nishina, T; Nishioka, K	1
Hoogenraad, NJ; Kretchmer, N; Levine, RL	1
Fox, RM; O'Sullivan, WJ; Royse-Smith, D; Wood, MH	1
Becroft, DM; Phillips, LI; Simmonds, A	1
Heyn, RM; Krooth, RS; Tubergen, DG	1
Lovric, A; Soutter, GB; Stapleton, T; Yu, J	1

Reviews

3 review(s) available for uridine and Purine Pyrimidine Metabolism, Inborn Errors

Article	Year
Orotic aciduria and uridine monophosphate synthase: a reappraisal. Journal of inherited metabolic disease, 2009, Volume: 32 Suppl 1 Topics: Adult; Anemia, Megaloblastic; Child; Child, Preschool; Humans; Infant; Kinetics; Metabolic Networks and Pathways; Models, Biological; Multienzyme Complexes; Orotate Phosphoribosyltransferase; Orotic Acid; Orotidine-5'-Phosphate Decarboxylase; Purine-Pyrimidine Metabolism, Inborn Errors; Uridine; Uridine Monophosphate	2009
[Disorders of human pyrimidine metabolism (author's transl)]. MMW, Munchener medizinische Wochenschrift, 1975, Volume: 117, Issue:37 Topics: Allopurinol; Azauridine; Chemical Phenomena; Chemistry; Cytidine; Folic Acid; Humans; Infant; Male; Ornithine Carbamoyltransferase; Orotic Acid; Phosphoribosyl Pyrophosphate; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Pyrimidine Nucleotides; Pyrimidines; Uridine	1975
A review: biological and clinical aspects of pyrimidine metabolism. Pediatric research, 1974, Volume: 8, Issue:7 Topics: Ammonia; Animals; Cats; Cell Transformation, Neoplastic; Cytidine; Glucose; Humans; Isoproterenol; Lectins; Lipid Metabolism; Liver Regeneration; Lymphocyte Activation; Mice; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidine Nucleotides; Rats; Salivary Glands; Thymine; Uracil Nucleotides; Urea; Uridine; Uridine Diphosphate Sugars	1974

Other Studies

19 other study(ies) available for uridine and Purine Pyrimidine Metabolism, Inborn Errors

Article	Year
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation. PloS one, 2019, Volume: 14, Issue:2 Topics: Adenine; Adolescent; Adult; Aminoimidazole Carboxamide; Biomarkers; Child; Child, Preschool; Chromatography, Liquid; Female; Humans; Infant; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Quality Control; Reference Values; Ribonucleotides; Tandem Mass Spectrometry; Urea; Uridine	2019
In brief: Uridine triacetate (Xuriden) for hereditary orotic aciduria. The Medical letter on drugs and therapeutics, 2016, Mar-28, Volume: 58, Issue:1491 Topics: Acetates; Administration, Oral; Biomarkers; Drug Costs; Humans; Orotate Phosphoribosyltransferase; Orotic Acid; Orotidine-5'-Phosphate Decarboxylase; Purine-Pyrimidine Metabolism, Inborn Errors; Treatment Outcome; Uridine	2016
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. Journal of inherited metabolic disease, 2017, Volume: 40, Issue:3 Topics: Anemia, Megaloblastic; Child; Child, Preschool; Female; Heterozygote; Humans; Infant; Intellectual Disability; Male; Multienzyme Complexes; Mutation; Orotate Phosphoribosyltransferase; Orotic Acid; Orotidine-5'-Phosphate Decarboxylase; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines; Urea Cycle Disorders, Inborn; Uridine	2017
HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE. British medical journal, 1965, Feb-27, Volume: 1, Issue:5434 Topics: Anemia; Anemia, Macrocytic; Anemia, Megaloblastic; Bone Marrow Examination; Child; Fluids and Secretions; Folic Acid; Humans; Infant; Metabolism, Inborn Errors; Nucleosides; Orotic Acid; Prognosis; Purine-Pyrimidine Metabolism, Inborn Errors; Pyridoxine; Thyroxine; Uridine; Urine; Vitamin B 12	1965
PROPERTIES ODF DIPLOID CELL STRAINS DEVELOPED FROM PATIENTS WITH AN INHERITED ABNORMALITY OF URIDINE BIOSYNTHESIS. Cold Spring Harbor symposia on quantitative biology, 1964, Volume: 29 Topics: Carboxy-Lyases; Diploidy; Genetics, Medical; Humans; Mutation; Nucleosides; Nucleotidyltransferases; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Tissue Culture Techniques; Uridine; Urine	1964
Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine. American journal of diseases of children (1960), 1967, Volume: 113, Issue:6 Topics: Anemia, Macrocytic; Bone Marrow Examination; Growth; Humans; Infant; Intellectual Disability; Male; Orotic Acid; Prednisone; Purine-Pyrimidine Metabolism, Inborn Errors; Uridine	1967
Diagnostic and therapeutic approaches in pyrimidine 5'-nucleotidase deficiency. Advances in experimental medicine and biology, 1984, Volume: 165 Pt A Topics: 5'-Nucleotidase; Clinical Enzyme Tests; Cytidine; Erythrocytes; Humans; Kinetics; Nucleotidases; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Uridine	1984
Purine nucleoside phosphorylase (PNP) deficiency: a therapeutic challenge. Advances in experimental medicine and biology, 1984, Volume: 165 Pt A Topics: B-Lymphocytes; Deoxycytidine; Erythrocytes; Follow-Up Studies; Guanine; Humans; Infant, Newborn; Lymphocyte Activation; Male; Pentosyltransferases; Purine-Nucleoside Phosphorylase; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleotides; T-Lymphocytes; Tetrahydrouridine; Uridine	1984
Abnormal purine and pyrimidine metabolism in inherited superactivity of PRPP synthetase. Advances in experimental medicine and biology, 1994, Volume: 370 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
Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency. Clinica chimica acta; international journal of clinical chemistry, 1979, May-02, Volume: 93, Issue:3 Topics: Allopurinol; Child; Child, Preschool; Chromatography, High Pressure Liquid; Deoxycytidine; Humans; Infant; Ornithine Carbamoyltransferase Deficiency Disease; Orotate Phosphoribosyltransferase; Orotic Acid; Orotidine-5'-Phosphate Decarboxylase; Pentosyltransferases; Purine-Nucleoside Phosphorylase; Purine-Pyrimidine Metabolism, Inborn Errors; Respiratory Tract Infections; Uracil; Uridine	1979
Urinary excretion of purines, purine nucleosides, and pseudouridine in adenosine deaminase deficiency. Biochemical medicine, 1978, Volume: 20, Issue:2 Topics: Adenosine Deaminase; Chromatography, Ion Exchange; Humans; Infant; Nucleoside Deaminases; Pseudouridine; Purine Nucleosides; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Spectrometry, Fluorescence; Uridine	1978
Immune cell function and recycling of purines. The New England journal of medicine, 1976, Dec-09, Volume: 295, Issue:24 Topics: Adenosine Deaminase; Blood Transfusion; Cell Membrane; Deamination; Erythrocyte Transfusion; Erythrocytes; Hypoxanthines; Immunologic Deficiency Syndromes; Nucleoside Deaminases; Pentosyltransferases; Purine-Nucleoside Phosphorylase; Purine-Pyrimidine Metabolism, Inborn Errors; Uridine	1976
Hereditary orotic aciduria: results of a screening survey. The Journal of laboratory and clinical medicine, 1975, Volume: 85, Issue:2 Topics: Adult; Carboxy-Lyases; Carboxylic Acids; Erythrocytes; Female; Heterozygote; Humans; Intellectual Disability; Male; Orotic Acid; Pentosyltransferases; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidine Nucleotides; Ribonucleotides; Uracil Nucleotides; Uridine	1975
Hypogammaglobulinemia in orotic aciduria. The Journal of pediatrics, 1989, Volume: 115, Issue:2 Topics: Agammaglobulinemia; Humans; Infant; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Uridine	1989
Liquid chromatography with multichannel ultraviolet detection used for studying disorders of purine metabolism. Clinical chemistry, 1987, Volume: 33, Issue:11 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
Hereditary orotic aciduria: types I and II. The American journal of medicine, 1973, Volume: 55, Issue:6 Topics: Australia; Clinical Enzyme Tests; Female; Heterozygote; Humans; Male; Orotic Acid; Pedigree; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines; Uracil Nucleotides; Uridine	1973
Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil. The Journal of pediatrics, 1969, Volume: 75, Issue:5 Topics: Alanine; Anemia, Macrocytic; Child; Child, Preschool; Humans; Infant; Intellectual Disability; Male; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Uracil; Uridine	1969
Hereditary orotic aciduria with normal growth and development. American journal of diseases of children (1960), 1969, Volume: 118, Issue:6 Topics: Anemia; Bone Marrow Examination; Carboxy-Lyases; Child; Culture Techniques; Female; Humans; Leukopenia; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Transferases; Uridine	1969
Hereditary orotic aciduria. Australian paediatric journal, 1970, Volume: 6, Issue:1 Topics: Anemia, Macrocytic; Child, Preschool; Female; Growth Disorders; Humans; Infant; Intellectual Disability; Male; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Uridine	1970