Concepedia

Fabry Disease

Fabry Disease is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme alpha-galactosidase A, leading to the progressive accumulation of globotriaosylceramide in various cell types.

2.1K

Publications

119.4K

Citations

8.5K

Authors

2.1K

Institutions

Publications per year

2017–2026

558

Variants

Anderson-fabry Disease

Parents

Publications

2.1K

Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease

Christine M. Eng, Nathalie Guffon, William R. Wilcox et al. · New England Journal of Medicine · 2001 · 1.5K citations · Full text

, , +14

Enzyme Replacement Therapy in Fabry Disease

Raphael Schiffmann, Jeffrey B. Kopp, Howard A. Austin et al. · JAMA · 2001 · 1.3K citations

, , +13

Enzymatic Defect in Fabry's Disease

Roscoe O. Brady, Andrew E. Gal, Roy M. Bradley et al. · New England Journal of Medicine · 1967 · 1.1K citations

, , +12

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

Marco Spada, Severo Pagliardini, Makiko Yasuda et al. · The American Journal of Human Genetics · 2006 · 1K citations · Full text

, , +13

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

Atul Mehta, Renato Pietro Ricci, Urs Widmer et al. · European Journal of Clinical Investigation · 2004 · 852 citations · Full text

, , +12

1–5 of 2.1K

Authors

8.5K

  1. RJ
    Robert J. Desnick

    Icahn School of Medicine at Mount Sinai, United States

    94 publications · 13.1K citations

    55

    h-index

  2. DP
    Dominique P. Germain

    Assistance Publique – Hôpitaux de Paris, France

    71 publications · 9.8K citations

    48

    h-index

  3. CW
    Christoph Wanner

    Universitätsklinikum Würzburg, Germany

    79 publications · 7.4K citations

    47

    h-index

  4. RS
    Raphael Schiffmann

    National Institute of Neurological Disorders and Stroke, United States

    79 publications · 9.2K citations

    46

    h-index

  5. DH
    Derralynn Hughes

    University College London, United Kingdom

    85 publications · 7.6K citations

    43

    h-index

1–5 of 8.5K

Institutions

2.1K

  1. University College London

    London, United Kingdom

    68 h-index

    493 publications

    60.2K citations

  2. Icahn School of Medicine at Mount Sinai

    New York, United States

    54 h-index

    272 publications

    42.7K citations

  3. Johannes Gutenberg University Mainz

    Mainz, Germany

    50 h-index

    280 publications

    22.7K citations

  4. National Institutes of Health

    Bethesda, United States

    49 h-index

    291 publications

    37.1K citations

  5. Amsterdam UMC Location University of Amsterdam

    Amsterdam, The Netherlands

    47 h-index

    304 publications

    40.6K citations

  6. The Royal Free Hospital

    London, United Kingdom

    47 h-index

    164 publications

    22.2K citations

  7. National Institute of Neurological Disorders and Stroke

    Bethesda, United States

    46 h-index

    280 publications

    36K citations

  8. University of Würzburg

    Würzburg, Germany

    40 h-index

    342 publications

    21.2K citations

1–8 of 2.1K

Venues

  1. Molecular Genetics and Metabolism

    88 publications · 4.9K citations

    42

    h-index

  2. Journal of Inherited Metabolic Disease

    JIMD · 78 publications · 4.4K citations

    38

    h-index

  3. PLoS ONE

    56 publications · 2.5K citations

    33

    h-index

  4. PubMed

    Repository · 93 publications · 3.7K citations

    32

    h-index

  5. Journal of Medical Genetics

    JMG · 33 publications · 3.8K citations

    27

    h-index

1–5