Concepedia

Gaucher Disease

Gaucher Disease is a lysosomal storage disorder characterized by deficient activity of the enzyme glucocerebrosidase, leading to accumulation of glucocerebroside in macrophages and subsequent multisystemic manifestations.

2.3K

Publications

124.2K

Citations

8K

Authors

2K

Institutions

Publications per year

2017–2026

344

Variants

Gaucher's Disease

Parents

Publications

2.3K

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

Joseph R. Mazzulli, You-Hai Xu, Ying Sun et al. · Cell · 2011 · 1.3K citations · Full text

, , +14

Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's Disease

Norman W. Barton, Roscoe O. Brady, James M. Dambrosia et al. · New England Journal of Medicine · 1991 · 1.3K citations · Full text

, , +17

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.

Carla E. M. Hollak, Sonja van Weely, M. H. van Oers et al. · Journal of Clinical Investigation · 1994 · 907 citations · Full text

, , +14

Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease

Roscoe O. Brady, Julian N. Kanfer, David J. Shapiro · Biochemical and Biophysical Research Communications · 1965 · 805 citations

, , +14

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis

Timothy M. Cox, Robin Lachmann, C. E. Hollak et al. · The Lancet · 2000 · 744 citations

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1–5 of 2.3K

Authors

8K

  1. JM
    Johannes M. F. G. Aerts

    Amsterdam UMC Location University of Amsterdam, Netherlands

    109 publications · 10K citations

    55

    h-index

  2. GA
    Gregory A. Grabowski

    Cincinnati Children's Hospital Medical Center, United States

    105 publications · 8.8K citations

    52

    h-index

  3. AZ
    Ari Zimran

    Shaare Zedek Medical Center, Israel

    129 publications · 8.3K citations

    48

    h-index

  4. ES
    Ellen Sidransky

    National Human Genome Research Institute, United States

    88 publications · 8.4K citations

    45

    h-index

  5. PK
    Pramod K. Mistry

    Yale University, United States

    63 publications · 6.1K citations

    42

    h-index

1–5 of 8K

Institutions

2K

  1. National Institutes of Health

    Bethesda, United States

    60 h-index

    532 publications

    52.4K citations

  2. Amsterdam UMC Location University of Amsterdam

    Amsterdam, The Netherlands

    55 h-index

    420 publications

    39.4K citations

  3. Shaare Zedek Medical Center

    Jerusalem, Israel

    54 h-index

    535 publications

    31.8K citations

  4. University College London

    London, United Kingdom

    47 h-index

    346 publications

    37.9K citations

  5. University of Amsterdam

    Amsterdam, The Netherlands

    46 h-index

    293 publications

    28.9K citations

  6. National Institute of Neurological Disorders and Stroke

    Bethesda, United States

    44 h-index

    248 publications

    25.7K citations

  7. Cincinnati Children's Hospital Medical Center

    Cincinnati, United States

    43 h-index

    281 publications

    20K citations

  8. Icahn School of Medicine at Mount Sinai

    New York, United States

    40 h-index

    203 publications

    16K citations

1–8 of 2K

Venues

  1. PubMed

    Repository · 185 publications · 6.7K citations

    43

    h-index

  2. Proceedings of the National Academy of Sciences

    PNAS · 54 publications · 6K citations

    42

    h-index

  3. Blood Cells Molecules and Diseases

    BCMD · 135 publications · 5.8K citations

    41

    h-index

  4. Blood

    46 publications · 4.5K citations

    39

    h-index

  5. Molecular Genetics and Metabolism

    69 publications · 3.7K citations

    34

    h-index

1–5