Page last updated: 2024-08-17

uridine and Ornithine Carbamoyltransferase Deficiency Disease

uridine has been researched along with Ornithine Carbamoyltransferase Deficiency Disease in 13 studies

Research

Studies (13)

Timeframe	Studies, this research(%)	All Research%
pre-1990	2 (15.38)	18.7374
1990's	8 (61.54)	18.2507
2000's	3 (23.08)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Abeling, NG; Duran, M; van Kuilenburg, AB; van Maldegem, BT; Wijburg, FA	1
Fairbanks, LD; Krijt, J; Sebesta, I; Simmonds, HA	1
Davies, PM; Fairbanks, LD; Leonard, JV; Sebesta, I; Simmonds, HA	1
Arranz, JA; Burlina, A; Climent, C; Riudor, E; Rodés, M; Roig, M; Rubio, V; Sentís, M	1
Arranz, JA; Burlina, AB; Riudor, E; Rodés, M; Rubio, V; Sentís, M	1
Egawa, H; Kikuta, H; Kobayashi, K; Nagasaka, H; Tanaka, K; Yorifuji, T	1
de Bree, PK; Grift, J; Stoop, JW; van Gennip, AH; Wadman, SK; Zegers, BJ	1
Bordugo, A; Burlina, AB; Dionisi-Vici, C; Ferrari, V; Tuchman, M; Zacchello, F	1
Katoh, T; Kibe, T; Kidouchi, K; Nakamura, C; Ohba, S; Wada, Y	1
Tuchman, M	1
Brusilow, SW; Finkelstein, JE; Hauser, ER; Valle, D	1
Fenton, WA; Horwich, AL	1
Heick, HM; Korneluk, RG; MacKenzie, AE; MacLeod, HL	1

Trials

1 trial(s) available for uridine and Ornithine Carbamoyltransferase Deficiency Disease

Article	Year
Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency. Clinical chemistry, 1999, Volume: 45, Issue:7 Topics: Adolescent; Adult; Allopurinol; Child; Child, Preschool; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Female; Humans; Male; Middle Aged; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Proteins; ROC Curve; Sensitivity and Specificity; Uridine	1999

Article

Year

Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency.

Clinical chemistry, 1999, Volume: 45, Issue:7

Topics: Adolescent; Adult; Allopurinol; Child; Child, Preschool; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Female; Humans; Male; Middle Aged; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Proteins; ROC Curve; Sensitivity and Specificity; Uridine

1999

Other Studies

12 other study(ies) available for uridine and Ornithine Carbamoyltransferase Deficiency Disease

Article	Year
Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiency. Nucleosides, nucleotides & nucleic acids, 2006, Volume: 25, Issue:9-11 Topics: Ammonia; Child; Chromatography, High Pressure Liquid; Fatal Outcome; Humans; Male; Models, Chemical; Ornithine Carbamoyltransferase Deficiency Disease; Pyrimidines; Urea; Uridine	2006
The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency. Journal of inherited metabolic disease, 1994, Volume: 17, Issue:1 Topics: Adolescent; Adult; Allopurinol; Chromatography, High Pressure Liquid; Female; Genetic Carrier Screening; Humans; Middle Aged; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Uridine	1994
The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk. Clinica chimica acta; international journal of clinical chemistry, 1994, Jan-14, Volume: 224, Issue:1 Topics: Adolescent; Adult; Allopurinol; Child; Female; Heterozygote; Humans; Middle Aged; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Predictive Value of Tests; Risk; Spectrophotometry, Ultraviolet; Uridine	1994
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants. Journal of inherited metabolic disease, 2000, Volume: 23, Issue:7 Topics: Adolescent; Adult; Age Factors; Allopurinol; Child; Child, Preschool; Dose-Response Relationship, Drug; Female; Humans; Infant; Male; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Uridine	2000
Successful living-donor liver transplantation from an asymptomatic carrier mother in ornithine transcarbamylase deficiency. The Journal of pediatrics, 2001, Volume: 138, Issue:3 Topics: Adult; Amino Acids; Child; Female; Heterozygote; Humans; Liver Transplantation; Living Donors; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Treatment Outcome; Uridine	2001
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
Allopurinol challenge test in children. Journal of inherited metabolic disease, 1992, Volume: 15, Issue:5 Topics: Adolescent; Aging; Allopurinol; Child; Child, Preschool; Citrulline; Female; Humans; Infant; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Urea; Uridine	1992
Automated quantitative analysis for orotidine and uridine/thymine in urine by high-performance liquid chromatography with column switching. Advances in experimental medicine and biology, 1991, Volume: 309B Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, High Pressure Liquid; Evaluation Studies as Topic; Humans; Infant; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Disease; Reference Values; Thymine; Uridine	1991
Allopurinol-induced orotidinuria. The New England journal of medicine, 1990, Nov-08, Volume: 323, Issue:19 Topics: Allopurinol; Amino Acid Metabolism, Inborn Errors; Female; Genetic Carrier Screening; Humans; Ornithine Carbamoyltransferase Deficiency Disease; Uridine	1990
Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women. The New England journal of medicine, 1990, Jun-07, Volume: 322, Issue:23 Topics: Adult; Allopurinol; Chromatography, High Pressure Liquid; Female; Genetic Carrier Screening; Heterozygote; Humans; Middle Aged; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Uridine	1990
Precarious balance of nitrogen metabolism in women with a urea-cycle defect. The New England journal of medicine, 1990, Jun-07, Volume: 322, Issue:23 Topics: Allopurinol; Ammonia; Coma; Female; Genetic Carrier Screening; Heterozygote; Humans; Nitrogen; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Pregnancy; Puerperal Disorders; Uridine	1990
False positive results from the alanine loading test for ornithine carbamoyltransferase deficiency heterozygosity. The Journal of pediatrics, 1989, Volume: 115, Issue:4 Topics: Adult; Alanine; Allopurinol; Ammonia; False Positive Reactions; Female; Genetic Carrier Screening; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Disease; Pedigree; Uridine	1989