Concepedia

Orotic Aciduria

Orotic Aciduria is a rare inherited metabolic disorder characterized by the excessive excretion of orotic acid in the urine due to a deficiency in the enzyme activities of the pyrimidine synthesis pathway, specifically uridine monophosphate synthase.

182

Publications

7.2K

Citations

751

Authors

285

Institutions

Publications per year

2017–2026

8

Variants

Hereditary Orotic Aciduria

Parents

Publications

182

Evaluation of the Transfer and Expression in Mice of an Enzyme-Encoding Gene Using a Human Adenovirus Vector

Leslie D. Stratford-Perricaudet, Massimo Levrero, Jean-François Chassé et al. · Human Gene Therapy · 1990 · 324 citations

, , +17

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2015 · 249 citations · Full text

, , +14

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 236 citations · Full text

, , +12

Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus

Pamela Arn, Elizabeth R. Hauser, George H. Thomas et al. · New England Journal of Medicine · 1990 · 182 citations · Full text

, , +12

Refractory Megaloblastic Anemia Associated with Excretion of Orotic Acid

Charles M. Huguley, James A. Bain, Shirley L. Rivers et al. · Blood · 1959 · 154 citations · Full text

, , +13

1–5 of 182

Authors

751

  1. JA
    John A. Milner

    University of Illinois Urbana-Champaign, United States

    8 publications · 243 citations

    8

    h-index

  2. LH
    Lloyd H. Smith

    University of California, Davis, United States

    6 publications · 302 citations

    6

    h-index

  3. WN
    William N. Kelley

    University of Michigan, United States

    6 publications · 339 citations

    6

    h-index

  4. SW
    Saul W. Brusilow

    Johns Hopkins University, United States

    5 publications · 385 citations

    5

    h-index

  5. CB
    C. Bachmann

    University of Bern, Switzerland

    4 publications · 131 citations

    4

    h-index

1–5 of 751

Institutions

285

  1. University of Illinois Urbana-Champaign

    Urbana, United States

    11 h-index

    25 publications

    608 citations

  2. Duke Medical Center

    Durham, United States

    8 h-index

    26 publications

    1.4K citations

  3. Cornell University

    Ithaca, United States

    7 h-index

    18 publications

    623 citations

  4. Johns Hopkins University

    Baltimore, United States

    7 h-index

    14 publications

    717 citations

  5. Duke University Hospital

    Durham, United States

    7 h-index

    24 publications

    1.3K citations

  6. University of Minnesota

    Minneapolis, United States

    5 h-index

    16 publications

    578 citations

  7. Baylor College of Medicine

    Houston, United States

    5 h-index

    22 publications

    943 citations

  8. Yale University

    New Haven, United States

    5 h-index

    12 publications

    986 citations

1–8 of 285

Venues

  1. Journal of Nutrition

    JN · 11 publications · 236 citations

    11

    h-index

  2. PubMed

    Repository · 12 publications · 375 citations

    11

    h-index

  3. Journal of Inherited Metabolic Disease

    JIMD · 7 publications · 564 citations

    7

    h-index

  4. Journal of Clinical Investigation

    JCI · 7 publications · 552 citations

    7

    h-index

  5. Clinical Chemistry

    7 publications · 177 citations

    7

    h-index

1–5