Concepedia

X-linked Protoporphyria

X-Linked Protoporphyria is a rare genetic photosensitivity disorder characterized by dysfunctional heme biosynthesis due to gain-of-function mutations in the ALAS2 gene on the X chromosome, leading to pathological accumulation of protoporphyrin IX in erythrocytes and subsequent cutaneous photosensitivity.

43

Publications

2.3K

Citations

214

Authors

103

Institutions

Publications per year

2017–2026

11

Variants

Xldpp

Parents

Publications

43

Eradication of high-grade dysplasia in columnar-lined (Barrett's) oesophagus by photodynamic therapy with endogenously generated protoporphyrin IX

Hugh Barr, NA Shepherd, A Dix et al. · The Lancet · 1996 · 304 citations

, , +16

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

Sharon D. Whatley, Sarah Ducamp, Laurent Gouya et al. · The American Journal of Human Genetics · 2008 · 293 citations · Full text

, , +9

Lack of selectivity of protoporphyrin IX fluorescence for basal cell carcinoma after topical application of 5-aminolevulinic acid: implications for photodynamic treatment

Whitney D. Tope, Alex Martín, Joannes M. Grevelink et al. · Archives of Dermatological Research · 1995 · 146 citations

, , +17

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria

Manisha Balwani, Hetanshi Naik, Karl E. Anderson et al. · JAMA Dermatology · 2017 · 115 citations

, , +14

Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

Manisha Balwani, Dana Doheny, David F. Bishop et al. · Molecular Medicine · 2013 · 98 citations · Full text

, , +15

1–5 of 43

Authors

214

  1. RJ
    Robert J. Desnick

    Icahn School of Medicine at Mount Sinai, United States

    10 publications · 522 citations

    10

    h-index

  2. MB
    Manisha Balwani

    Icahn School of Medicine at Mount Sinai, United States

    9 publications · 472 citations

    9

    h-index

  3. HN
    Hetanshi Naik

    Icahn School of Medicine at Mount Sinai, United States

    7 publications · 293 citations

    7

    h-index

  4. LG
    Laurent Gouya

    Inserm, France

    6 publications · 438 citations

    6

    h-index

  5. BW
    Bruce Wang

    University of California, San Francisco, United States

    6 publications · 254 citations

    6

    h-index

1–5 of 214

Institutions

103

  1. Icahn School of Medicine at Mount Sinai

    New York, United States

    11 h-index

    42 publications

    2.3K citations

  2. University of Alabama at Birmingham

    Birmingham, United States

    7 h-index

    12 publications

    572 citations

  3. The University of Texas Medical Branch at Galveston

    Galveston, United States

    6 h-index

    7 publications

    347 citations

  4. Hôpital Louis-Mourier

    Colombes, France

    6 h-index

    22 publications

    1.7K citations

  5. Assistance Publique – Hôpitaux de Paris

    Paris, France

    5 h-index

    20 publications

    2K citations

  6. University of California, San Francisco

    San Francisco, United States

    5 h-index

    9 publications

    444 citations

  7. University of Utah

    Salt Lake City, United States

    5 h-index

    5 publications

    289 citations

  8. Inserm

    Paris, France

    5 h-index

    22 publications

    2.3K citations

1–8 of 103

Venues

  1. PubMed

    Repository · 3 publications · 132 citations

    3

    h-index

  2. Molecular Medicine

    3 publications · 169 citations

    3

    h-index

  3. Blood

    2 publications · 92 citations

    2

    h-index

  4. 2

    h-index

  5. The Lancet

    2 publications · 332 citations

    2

    h-index

1–5