Concepedia

Porphyria Pathobiology

Porphyria Pathobiology is a theoretical framework within the study of porphyrin metabolism that elucidates the molecular and biochemical mechanisms underlying the dysregulation of heme biosynthesis in porphyrias, distinguishing it from related clinical or diagnostic constructs by focusing on the causal pathways of disease manifestation.

1.3K

Publications

50.6K

Citations

3.3K

Authors

895

Institutions

Publications per year

2017–2026

79

Parents

Publications

1.3K

Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria

Manisha Balwani, Eliane Sardh, Paolo Ventura et al. · New England Journal of Medicine · 2020 · 592 citations · Full text

, , +14

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

Grégoire Cullot, Julian Boutin, Jérôme Toutain et al. · Nature Communications · 2019 · 480 citations · Full text

, , +17

Erythropoietin for the Treatment of Porphyria Cutanea Tarda in a Patient on Long-Term Hemodialysis

Karl E. Anderson, Douglas E. Goeger, Richard W. Carson et al. · New England Journal of Medicine · 1990 · 375 citations

, , +16

Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda

Andrew G. Roberts, Sharon D. Whatley, Rhian Morgan et al. · The Lancet · 1997 · 321 citations

, , +4

The incidence of inherited porphyrias in Europe

George H. Elder, Pauline Harper, Michael N. Badminton et al. · Journal of Inherited Metabolic Disease · 2012 · 297 citations

, , +5

1–5 of 1.3K

Authors

3.3K

  1. YN
    Y Nordmann

    Hôpital Louis-Mourier, France

    51 publications · 2.7K citations

    31

    h-index

  2. JD
    Jean‐Charles Deybach

    Hôpital Louis-Mourier, France

    38 publications · 2.6K citations

    29

    h-index

  3. HD
    Hubert de Verneuil

    Inserm, France

    39 publications · 1.9K citations

    27

    h-index

  4. RJ
    Robert J. Desnick

    Icahn School of Medicine at Mount Sinai, United States

    38 publications · 2.3K citations

    26

    h-index

  5. BG
    Bernard Grandchamp

    Inserm, France

    28 publications · 1.7K citations

    26

    h-index

1–5 of 3.3K

Institutions

895

  1. Hôpital Louis-Mourier

    Colombes, France

    34 h-index

    231 publications

    13.3K citations

  2. Inserm

    Paris, France

    30 h-index

    247 publications

    20.6K citations

  3. Icahn School of Medicine at Mount Sinai

    New York, United States

    27 h-index

    176 publications

    10.2K citations

  4. University of Wales

    Cardiff, United Kingdom

    24 h-index

    84 publications

    5.7K citations

  5. University of Utah

    Salt Lake City, United States

    24 h-index

    78 publications

    6.6K citations

  6. The University of Texas Medical Branch at Galveston

    Galveston, United States

    20 h-index

    54 publications

    5.5K citations

  7. Université Paris Cité

    Paris, France

    19 h-index

    105 publications

    9.1K citations

  8. Karolinska University Hospital

    Stockholm, Sweden

    19 h-index

    126 publications

    28.1K citations

1–8 of 895

Venues

  1. PubMed

    Repository · 165 publications · 4.4K citations

    34

    h-index

  2. Archives of Dermatology

    56 publications · 2K citations

    26

    h-index

  3. British Journal of Dermatology

    40 publications · 1.4K citations

    24

    h-index

  4. Human Genetics

    29 publications · 1.2K citations

    21

    h-index

  5. Journal of Clinical Investigation

    JCI · 22 publications · 1.8K citations

    21

    h-index

1–5