Concepedia

Peroxisomal Disorders

Peroxisomal Disorders is a group of inherited metabolic diseases characterized by genetically determined defects in peroxisome biogenesis or in single peroxisomal enzymes or transporters, resulting in impaired peroxisomal metabolic functions and consequent multisystem, frequently neurodevelopmental, pathology.

578

Publications

37.5K

Citations

2.1K

Authors

691

Institutions

Publications per year

2017–2026

61

Parents

Children

Publications

578

Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome

Sidney Goldfischer, Cyril L. Moore, Alfred J. Spiro et al. · Science · 1973 · 794 citations

, , +17

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Marc Engelen, Stephan Kemp, Björn M. van Geel et al. · Orphanet Journal of Rare Diseases · 2012 · 573 citations · Full text

, , +17

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

Gabriele Dodt, Nancy Braverman, C Wong et al. · Nature Genetics · 1995 · 426 citations

, , +12

Sequential strategy to identify a susceptibility gene for schizophrenia: Report of potential linkage on chromosome 22q12‐q13.1: Part 1

Ann E. Pulver, Maria Karayiorgou, Paula Wolyniec et al. · American Journal of Medical Genetics · 1994 · 382 citations · Full text

, , +17

Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation

Patrick Aubourg, Stéphane Blanche, Isabelle Jambaqué et al. · New England Journal of Medicine · 1990 · 370 citations · Full text

, , +12

1–5 of 578

Authors

2.1K

  1. RJ
    Ronald J. A. Wanders

    University of Amsterdam, Netherlands

    105 publications · 7.6K citations

    47

    h-index

  2. AB
    Ann B. Moser

    Kennedy Krieger Institute, United States

    43 publications · 3.9K citations

    32

    h-index

  3. NS
    Nobuyuki Shimozawa

    Gifu University, Japan

    55 publications · 3K citations

    31

    h-index

  4. HR
    Hans R. Waterham

    University of Amsterdam, Netherlands

    38 publications · 3.1K citations

    30

    h-index

  5. HW
    Hugo W. Moser

    Johns Hopkins University, United States

    35 publications · 4K citations

    29

    h-index

1–5 of 2.1K

Institutions

691

  1. University of Amsterdam

    Amsterdam, The Netherlands

    49 h-index

    521 publications

    45.1K citations

  2. Johns Hopkins University

    Baltimore, United States

    48 h-index

    268 publications

    36.9K citations

  3. Kennedy Krieger Institute

    Baltimore, United States

    47 h-index

    199 publications

    19.5K citations

  4. Amsterdam UMC Location University of Amsterdam

    Amsterdam, The Netherlands

    34 h-index

    225 publications

    19.7K citations

  5. Gifu University

    Gifu City, Japan

    33 h-index

    243 publications

    13.2K citations

  6. Johns Hopkins Medicine

    Baltimore, United States

    32 h-index

    143 publications

    21.6K citations

  7. Inserm

    Paris, France

    25 h-index

    112 publications

    12.5K citations

  8. Kyushu University

    Fukuoka, Japan

    24 h-index

    138 publications

    10.5K citations

1–8 of 691

Venues

  1. Journal of Inherited Metabolic Disease

    JIMD · 44 publications · 1.5K citations

    24

    h-index

  2. Human Molecular Genetics

    19 publications · 2.2K citations

    19

    h-index

  3. Journal of Biological Chemistry

    JBC · 20 publications · 1.7K citations

    18

    h-index

  4. Human Mutation

    21 publications · 1.2K citations

    17

    h-index

  5. The American Journal of Human Genetics

    AJHG · 16 publications · 1.5K citations

    16

    h-index

1–5