Concepedia

Propionic Acidemia

Propionic Acidemia is a rare autosomal recessive organic aciduria, characterized by a deficiency in propionyl-CoA carboxylase activity, leading to the pathological accumulation of propionic acid and related metabolites that disrupt amino acid and energy metabolism, thereby representing a prototypical inborn error of metabolism associated with metabolic epilepsies.

385

Publications

15.3K

Citations

1.9K

Authors

588

Institutions

Publications per year

2017–2026

87

Variants

Propionyl-coa Carboxylase Deficiency

Parents

Publications

385

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Patrick Forny, Friederike Hörster, Diana Ballhausen et al. · Journal of Inherited Metabolic Disease · 2021 · 270 citations · Full text

, , +9

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Sarah C. Grünert, S. Müllerleile, Linda De Silva et al. · Orphanet Journal of Rare Diseases · 2013 · 188 citations · Full text

, , +13

Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism

Edwin W. Naylor, Donald H. Chace · Journal of Child Neurology · 1999 · 168 citations

, , +16

Dialysis in neonates with inborn errors of metabolism

Franz Schaefer · Nephrology Dialysis Transplantation · 1999 · 168 citations · Full text

, , +16

Metabolomics Identifies Perturbations in Human Disorders of Propionate Metabolism

William R. Wikoff, Jon A. Gangoiti, Bruce A. Barshop et al. · Clinical Chemistry · 2007 · 168 citations · Full text

, , +16

1–5 of 385

Authors

1.9K

  1. LR
    Lourdes R. Desviat

    Universidad Autónoma de Madrid, Spain

    28 publications · 915 citations

    22

    h-index

  2. MU
    Magdalena Ugarte

    Universidad Autónoma de Madrid, Spain

    31 publications · 1K citations

    22

    h-index

  3. BP
    Belén Pérez

    Universidad Autónoma de Madrid, Spain

    24 publications · 850 citations

    20

    h-index

  4. CP
    Celia Pérez‐Cerdá

    Universidad Autónoma de Madrid, Spain

    24 publications · 826 citations

    20

    h-index

  5. ER
    Eva Richard

    Universidad Autónoma de Madrid, Spain

    17 publications · 626 citations

    16

    h-index

1–5 of 1.9K

Institutions

588

  1. Universidad Autónoma de Madrid

    Madrid, Spain

    24 h-index

    186 publications

    6.3K citations

  2. Centro de Biología Molecular Severo Ochoa

    Madrid, Spain

    22 h-index

    162 publications

    5.6K citations

  3. University of California San Diego

    San Diego, United States

    17 h-index

    67 publications

    3.7K citations

  4. University Hospital Heidelberg

    Heidelberg, Germany

    15 h-index

    68 publications

    2.9K citations

  5. Heidelberg University

    Heidelberg, Germany

    15 h-index

    68 publications

    2.9K citations

  6. Centro de Investigación Biomédica en Red

    Madrid, Spain

    15 h-index

    93 publications

    3.1K citations

  7. King Faisal Specialist Hospital & Research Centre

    Riyadh, Saudi Arabia

    15 h-index

    81 publications

    3.3K citations

  8. Hôpital Necker-Enfants Malades

    Paris, France

    14 h-index

    109 publications

    5.8K citations

1–8 of 588

Venues

  1. Journal of Inherited Metabolic Disease

    JIMD · 39 publications · 1.5K citations

    24

    h-index

  2. Molecular Genetics and Metabolism

    27 publications · 1K citations

    22

    h-index

  3. The Journal of Pediatrics

    14 publications · 677 citations

    14

    h-index

  4. European Journal of Pediatrics

    13 publications · 676 citations

    13

    h-index

  5. JIMD Reports

    Book series · 15 publications · 395 citations

    13

    h-index

1–5