Concepedia

Cofactor Deficiencies

Cofactor Deficiencies is a metabolic disorder characterized by the impaired function of enzymatic reactions due to insufficient levels of non-protein organic molecules essential for catalytic activity, distinguishing it from primary enzyme deficiencies by involving auxiliary substances rather than the enzyme itself.

94

Publications

4.7K

Citations

502

Authors

239

Institutions

Publications per year

2017–2026

11

Parents

Publications

94

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

Barry Wolf, Robert E. Grier, Richard J. Allen et al. · Clinica Chimica Acta · 1983 · 348 citations

, , +13

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets

Isaiah D. Wexler, S. Hemalatha, J. McConnell et al. · Neurology · 1997 · 269 citations

, , +16

Diagnosis and classification of factor XIII deficiencies

H Köhler, Akitada Ichinose, Rainer Seitz et al. · Journal of Thrombosis and Haemostasis · 2011 · 194 citations · Full text

, , +12

Family studies of erythrocyte complement receptor type 1 levels: reduced levels in patients with SLE are acquired, not inherited.

Mark Walport, G D Ross, Charles Mackworth‐Young et al. · PubMed · 1985 · 152 citations

, , +15

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

Bernd Schwahn, Francjan J. van Spronsen, Abdel Ali Belaidi et al. · The Lancet · 2015 · 141 citations

, , +8

1–5 of 94

Authors

502

  1. JL
    Jean L. Johnson

    Washington State University, United States

    8 publications · 331 citations

    8

    h-index

  2. JR
    Jochen Reiss

    University of Göttingen, Germany

    5 publications · 278 citations

    5

    h-index

  3. KR
    K.V. Rajagopalan

    Duke Medical Center, United States

    5 publications · 222 citations

    5

    h-index

  4. CD
    C. Dorche

    Hôpital Debrousse, France

    4 publications · 233 citations

    4

    h-index

  5. GS
    Günter Schwarz

    University of Cologne, Germany

    4 publications · 295 citations

    4

    h-index

1–5 of 502

Institutions

239

  1. Duke University Hospital

    Durham, United States

    7 h-index

    15 publications

    755 citations

  2. Duke Medical Center

    Durham, United States

    7 h-index

    15 publications

    755 citations

  3. Duke University

    Durham, United States

    5 h-index

    11 publications

    314 citations

  4. Great Ormond Street Hospital

    London, United Kingdom

    5 h-index

    14 publications

    953 citations

  5. University of Göttingen

    Göttingen, Germany

    5 h-index

    11 publications

    392 citations

  6. University College London

    London, United Kingdom

    5 h-index

    17 publications

    1.1K citations

  7. Technion – Israel Institute of Technology

    Haifa, Israel

    4 h-index

    9 publications

    457 citations

  8. Technische Universität Braunschweig

    Braunschweig, Germany

    4 h-index

    6 publications

    543 citations

1–8 of 239

Venues

  1. Journal of Inherited Metabolic Disease

    JIMD · 16 publications · 667 citations

    14

    h-index

  2. Pediatric Research

    4 publications · 139 citations

    4

    h-index

  3. The Journal of Pediatrics

    4 publications · 170 citations

    4

    h-index

  4. Molecular Genetics and Metabolism

    4 publications · 170 citations

    4

    h-index

  5. Pediatric Neurology

    3 publications · 165 citations

    3

    h-index

1–5