Concepedia

Enzyme Deficiencies

Enzyme Deficiency is a metabolic disorder characterized by the reduced or absent activity of a specific enzyme due to genetic mutations, leading to the disruption of normal biochemical pathways.

14.9K

Publications

764K

Citations

51.7K

Authors

6.4K

Institutions

Publications per year

2017–2026

1.5K

Variants

Enzyme Deficiency

Parents

Children

Publications

14.9K

Hyperhomocysteinemia: An Independent Risk Factor for Vascular Disease

Robert Clarke, Leslie Daly, Killian Robinson et al. · New England Journal of Medicine · 1991 · 2.2K citations · Full text

, , +15

The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate

Patrick S. Ward, Jay Patel, David R. Wise et al. · Cancer Cell · 2010 · 2K citations · Full text

, , +12

ADENOSINE-DEAMINASE DEFICIENCY IN TWO PATIENTS WITH SEVERELY IMPAIRED CELLULAR IMMUNITY

E.R. Giblett, JeanneE. Anderson, Flossie Cohen et al. · The Lancet · 1972 · 1.7K citations

, , +9

The Electrophoretic α; <sub>1</sub> -Globulin Pattern of Serum in α; <sub>1</sub> -Antitrypsin Deficiency

C.‐B. Laurell, Sten Eriksson · Scandinavian Journal of Clinical and Laboratory Investigation · 1963 · 1.4K citations

, , +7

A Second Genetic Polymorphism in Methylenetetrahydrofolate Reductase (MTHFR) Associated with Decreased Enzyme Activity

Ilan Weisberg, Pamela V. Tran, Benedicte Christensen et al. · Molecular Genetics and Metabolism · 1998 · 1.3K citations

, , +11

1–5 of 14.9K

Authors

51.7K

  1. RJ
    Ronald J. A. Wanders

    University of Amsterdam, Netherlands

    132 publications · 7.8K citations

    52

    h-index

  2. EB
    Ernest Beutler

    City Of Hope National Medical Center, United States

    103 publications · 7.1K citations

    46

    h-index

  3. SD
    Salvatore DiMauro

    Columbia University, United States

    81 publications · 6.6K citations

    45

    h-index

  4. MI
    Maria I. New

    Cornell University, United States

    59 publications · 7.3K citations

    42

    h-index

  5. GF
    Georg F. Hoffmann

    Heidelberg University, Germany

    63 publications · 4.3K citations

    39

    h-index

1–5 of 51.7K

Institutions

6.4K

  1. University College London

    London, United Kingdom

    87 h-index

    955 publications

    74.9K citations

  2. National Institutes of Health

    Bethesda, United States

    84 h-index

    1K publications

    103.3K citations

  3. Inserm

    Paris, France

    82 h-index

    1.5K publications

    101.2K citations

  4. University of Amsterdam

    Amsterdam, The Netherlands

    74 h-index

    918 publications

    57.6K citations

  5. Radboud University Nijmegen

    Nijmegen, The Netherlands

    68 h-index

    905 publications

    58.7K citations

  6. University of Pennsylvania

    Philadelphia, United States

    67 h-index

    612 publications

    66.3K citations

  7. Amsterdam UMC Location University of Amsterdam

    Amsterdam, The Netherlands

    66 h-index

    669 publications

    47.2K citations

  8. Johns Hopkins University

    Baltimore, United States

    65 h-index

    545 publications

    49.4K citations

1–8 of 6.4K

Venues

  1. Proceedings of the National Academy of Sciences

    PNAS · 260 publications · 32K citations

    106

    h-index

  2. Journal of Clinical Investigation

    JCI · 312 publications · 32K citations

    102

    h-index

  3. New England Journal of Medicine

    NEJM · 186 publications · 30K citations

    90

    h-index

  4. PubMed

    Repository · 1.1K publications · 43.2K citations

    86

    h-index

  5. Journal of Biological Chemistry

    JBC · 311 publications · 21K citations

    83

    h-index

1–5