Concepedia

Pearson Syndrome

Pearson Syndrome is a rare mitochondrial disorder characterized by sideroblastic anemia, exocrine pancreatic dysfunction, and multisystem involvement resulting from large-scale deletions in mitochondrial DNA.

99

Publications

4.6K

Citations

609

Authors

251

Institutions

Publications per year

2017–2026

16

Variants

Pearson Marrow-pancreas Syndrome

Parents

Publications

99

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Agnès Rötig, Stéphane Blanche, Jean‐Paul Bonnefont et al. · Journal of Clinical Investigation · 1990 · 472 citations · Full text

, , +17

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

M A McShane, Simon Hammans, M G Sweeney et al. · PubMed · 1991 · 255 citations

, , +14

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome

Agnès Rötig, Thomas Bourgeron, Dominique Chrétien et al. · Human Molecular Genetics · 1995 · 204 citations

, , +15

Double strand break rejoining by mammalian mitochondrial extracts

Uma Lakshmipathy · Nucleic Acids Research · 1999 · 105 citations

, , +16

Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures.

Thomas Bourgeron, Dominique Chrétien, Agnès Rötig et al. · Journal of Biological Chemistry · 1993 · 104 citations · Full text

, , +13

1–5 of 99

Authors

609

  1. AR
    Agnès Rötig

    Inserm, France

    12 publications · 1.1K citations

    11

    h-index

  2. AM
    Arnold Münnich

    Inserm, France

    10 publications · 767 citations

    10

    h-index

  3. PR
    Pierre Rustin

    Inserm, France

    5 publications · 847 citations

    5

    h-index

  4. JB
    Jean‐Paul Bonnefont

    Inserm, France

    3 publications · 538 citations

    3

    h-index

  5. CE
    Charles E. Mize

    The University of Texas Southwestern Medical Center, United States

    3 publications · 172 citations

    3

    h-index

1–5 of 609

Institutions

251

  1. Hôpital des Enfants

    Toulouse, France

    12 h-index

    47 publications

    6.5K citations

  2. Inserm

    Paris, France

    12 h-index

    52 publications

    7.4K citations

  3. Hacettepe University

    Ankara, Türkiye

    4 h-index

    19 publications

    757 citations

  4. Radboud University Nijmegen

    Nijmegen, The Netherlands

    3 h-index

    12 publications

    243 citations

  5. Hiroshima University

    Hiroshima, Japan

    3 h-index

    11 publications

    327 citations

  6. The University of Texas Southwestern Medical Center

    Dallas, United States

    3 h-index

    11 publications

    555 citations

  7. University of Amsterdam

    Amsterdam, The Netherlands

    3 h-index

    4 publications

    124 citations

  8. Erasmus University Rotterdam

    Rotterdam, The Netherlands

    3 h-index

    8 publications

    288 citations

1–8 of 251

Venues

  1. Journal of Inherited Metabolic Disease

    JIMD · 7 publications · 178 citations

    7

    h-index

  2. PubMed

    Repository · 6 publications · 361 citations

    6

    h-index

  3. Human Molecular Genetics

    4 publications · 371 citations

    4

    h-index

  4. British Journal of Haematology

    BJH · 4 publications · 128 citations

    4

    h-index

  5. Journal of Medical Genetics

    JMG · 4 publications · 169 citations

    4

    h-index

1–5