Evidence map›Paper›PMID 38577034›Full record

ArticleSkin health and disease2024

Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report.

Pierre Peterlin, Julia Bonnelye, Alice Garnier, Amandine Le Bourgeois, Thierry Guillaume, Maxime Jullien, Hervé Dutartre, Marie Le Moigne, Caroline Schmitt, Laurent Gouya and 3 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Skin health and disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 47% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. [Two siblings with congenital erythropoietic porphyria in one family: case report and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025
    Review
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 3 institutions in 1 country.

Pierre PeterlinClinical Hematology Nantes University Hospital Nantes France.ORCID https://orcid.org/0000-0001-5463-6686
Julia BonnelyeDermatology Department Reference Center for Cutaneous Porphyrias Nantes University Hospital Nantes France.
Alice GarnierClinical Hematology Nantes University Hospital Nantes France.
Amandine Le BourgeoisClinical Hematology Nantes University Hospital Nantes France.
Thierry GuillaumeClinical Hematology Nantes University Hospital Nantes France.
Maxime JullienClinical Hematology Nantes University Hospital Nantes France.
Hervé DutartreDermatology Department Reference Center for Cutaneous Porphyrias Nantes University Hospital Nantes France.
Marie Le MoigneDermatology Department Reference Center for Cutaneous Porphyrias Nantes University Hospital Nantes France.
Caroline SchmittReference Center for Rare Diseases Porphyrias Louis Mourier Hospital AP-HP, Colombes and Research Center of Inflammation UMR1149 INSERM Université de Paris Paris France.
Laurent GouyaReference Center for Rare Diseases Porphyrias Louis Mourier Hospital AP-HP, Colombes and Research Center of Inflammation UMR1149 INSERM Université de Paris Paris France.
Antoine PoliReference Center for Rare Diseases Porphyrias Louis Mourier Hospital AP-HP, Colombes and Research Center of Inflammation UMR1149 INSERM Université de Paris Paris France.
Sebastien BarbarotDermatology Department Reference Center for Cutaneous Porphyrias Nantes University Hospital Nantes France.
Patrice ChevallierClinical Hematology Nantes University Hospital Nantes France.
Centre Hospitalier Universitaire de Nantes · FRCentre National de la Recherche Scientifique · FRInserm · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital erythropoietic porphyria (CEP), or Gunther disease, is a rare genetic disease responsible for severe dermatologic, hepatic and/or haematological damages related to the deficient activity of the uroporphyrinogen III synthase. Allogeneic stem cell transplantation (Allo-SCT) represents the only curative treatment and few allotransplanted cases have been reported in children but not in adults. Here we report for the first time the successful cure of a 46-year old man with CEP with a 5-year follow-up after Allo-SCT.

Identifiers

PMID38577034
PMCPMC10988712
OpenAlexW4391282511

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.