Page last updated: 2024-08-17

uridine and Intellectual Disability

uridine has been researched along with Intellectual Disability in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19904 (66.67)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's2 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Al-Owain, M; Alhomaidi, S; Alkuraya, FS; Monies, D; Vågbø, CB1
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, T1
Haggard, ME; Lockhart, LH1
Holt, JG; Nicolaisen, AK; Rogers, LE1
Becroft, DM; Phillips, LI; Simmonds, A1
Lovric, A; Soutter, GB; Stapleton, T; Yu, J1

Other Studies

6 other study(ies) available for uridine and Intellectual Disability

ArticleYear
Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification.
    American journal of human genetics, 2019, 06-06, Volume: 104, Issue:6

    Topics: Adolescent; Adult; AlkB Homolog 8, tRNA Methyltransferase; Child; Child, Preschool; Codon; Female; Genes, Recessive; Humans; Intellectual Disability; Male; Mutation; RNA, Transfer; tRNA Methyltransferases; Uridine; Young Adult

2019
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
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
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
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.
    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