Concepedia

Organic Acidemias

Organic Acidemias is a subclass of inborn errors of metabolism characterized by the pathological accumulation of organic acids due to enzymatic deficiencies in amino acid or fatty acid catabolism, leading to metabolic acidosis and systemic toxicity.

516

Publications

21.6K

Citations

2.2K

Authors

698

Institutions

Publications per year

2017–2026

57

Variants

Organic Acidurias

Parents

Publications

516

Inborn Errors of Metabolism

Molecular Therapy · 2001 · 680 citations · Full text

, , +16

The Anion Gap

Man S. Oh, Hugh J. Carroll · New England Journal of Medicine · 1977 · 307 citations

, , +12

Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis

PEDIATRICS · 1998 · 280 citations

, , +16

X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

Richard I. Kelley, John P. Cheatham, Bernard J. Clark et al. · The Journal of Pediatrics · 1991 · 275 citations · Full text

, , +15

D-Lactic Acidosis in a Man with the Short-Bowel Syndrome

Man S. Oh, Kenneth R. Phelps, Morris Traube et al. · New England Journal of Medicine · 1979 · 255 citations

, , +13

1–5 of 516

Authors

2.2K

  1. MU
    Magdalena Ugarte

    Universidad Autónoma de Madrid, Spain

    23 publications · 821 citations

    19

    h-index

  2. CP
    Celia Pérez‐Cerdá

    Universidad Autónoma de Madrid, Spain

    18 publications · 702 citations

    17

    h-index

  3. WL
    William L. Nyhan

    University of California San Diego, United States

    18 publications · 922 citations

    17

    h-index

  4. LR
    Lourdes R. Desviat

    Universidad Autónoma de Madrid, Spain

    16 publications · 555 citations

    15

    h-index

  5. RA
    R. A. Chalmers

    MRC Clinical Trials Unit at UCL, United Kingdom

    14 publications · 841 citations

    14

    h-index

1–5 of 2.2K

Institutions

698

  1. University of California San Diego

    San Diego, United States

    21 h-index

    75 publications

    4.2K citations

  2. Universidad Autónoma de Madrid

    Madrid, Spain

    19 h-index

    131 publications

    4.6K citations

  3. King Faisal Specialist Hospital & Research Centre

    Riyadh, Saudi Arabia

    16 h-index

    93 publications

    3.4K citations

  4. Centro de Biología Molecular Severo Ochoa

    Madrid, Spain

    16 h-index

    112 publications

    4.1K citations

  5. Heidelberg University

    Heidelberg, Germany

    13 h-index

    33 publications

    2.1K citations

  6. Shimane University

    Matsue, Japan

    12 h-index

    37 publications

    2.4K citations

  7. Duke University

    Durham, United States

    11 h-index

    25 publications

    1.6K citations

  8. Yale University

    New Haven, United States

    11 h-index

    26 publications

    873 citations

1–8 of 698

Venues

  1. Molecular Genetics and Metabolism

    25 publications · 897 citations

    22

    h-index

  2. Journal of Inherited Metabolic Disease

    JIMD · 34 publications · 1.1K citations

    22

    h-index

  3. The Journal of Pediatrics

    26 publications · 1.2K citations

    21

    h-index

  4. PubMed

    Repository · 37 publications · 1.1K citations

    19

    h-index

  5. Clinica Chimica Acta

    CCA · 20 publications · 740 citations

    17

    h-index

1–5