Concepedia

Enzyme Replacement Therapy

Enzyme Replacement Therapy is a therapeutic modality in which functional recombinant enzymes are administered exogenously to compensate for deficient or defective endogenous enzymes in patients with inherited metabolic disorders.

2.1K

Publications

115.2K

Citations

9.4K

Authors

2.4K

Institutions

Publications per year

2017–2026

623

Parents

Publications

2.1K

Enzyme Replacement Therapy in Fabry Disease

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

, , +13

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

Correction of ADA-SCID by Stem Cell Gene Therapy Combined with Nonmyeloablative Conditioning

Alessandro Aiuti, Shimon Slavin, Memet Aker et al. · Science · 2002 · 1.1K citations

, , +15

Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency

Alessandro Aiuti, Federica Cattaneo, Stefania Galimberti et al. · New England Journal of Medicine · 2009 · 1K citations · Full text

, , +16

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

9.4K

  1. RG
    Roberto Giugliani

    Universidade Federal do Rio Grande do Sul, Brazil

    71 publications · 5.7K citations

    40

    h-index

  2. MB
    Michael Beck

    Johannes Gutenberg University Mainz, Germany

    52 publications · 7K citations

    38

    h-index

  3. PS
    Priya S. Kishnani

    Duke Medical Center, United States

    62 publications · 3.1K citations

    34

    h-index

  4. RS
    Raphael Schiffmann

    National Institute of Neurological Disorders and Stroke, United States

    43 publications · 5.4K citations

    34

    h-index

  5. DH
    Derralynn Hughes

    University College London, United Kingdom

    50 publications · 3.9K citations

    32

    h-index

1–5 of 9.4K

Institutions

2.4K

  1. University College London

    London, United Kingdom

    53 h-index

    260 publications

    31.8K citations

  2. Johannes Gutenberg University Mainz

    Mainz, Germany

    52 h-index

    229 publications

    32.4K citations

  3. National Institutes of Health

    Bethesda, United States

    41 h-index

    341 publications

    35.3K citations

  4. Universidade Federal do Rio Grande do Sul

    Porto Alegre, Brazil

    38 h-index

    192 publications

    12.8K citations

  5. Duke Medical Center

    Durham, United States

    38 h-index

    253 publications

    12.9K citations

  6. BioMarin (United States)

    San Rafael, United States

    35 h-index

    279 publications

    28.3K citations

  7. Amsterdam UMC Location University of Amsterdam

    Amsterdam, The Netherlands

    35 h-index

    204 publications

    14.8K citations

  8. Erasmus MC

    Rotterdam, The Netherlands

    34 h-index

    338 publications

    19.8K citations

1–8 of 2.4K

Venues

  1. Molecular Genetics and Metabolism

    121 publications · 5.9K citations

    48

    h-index

  2. Journal of Inherited Metabolic Disease

    JIMD · 79 publications · 4.1K citations

    40

    h-index

  3. Orphanet Journal of Rare Diseases

    OJRD · 84 publications · 3.9K citations

    37

    h-index

  4. Molecular Therapy

    42 publications · 3K citations

    34

    h-index

  5. PubMed

    Repository · 91 publications · 2.9K citations

    33

    h-index

1–5