Evidence map›Paper›PMID 39129919›Full record

ArticleFrontiers in endocrinology2024

Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient.

Shu-Hui Wu, Ting Xiao, Dan Zhao, Ying-Hong Zeng, Ming-Fang Zhu

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in endocrinology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

5 authors.

Shu-Hui Wu *Department of Dermatology, The Second Affiliated Hospital of Hunan University of Chinese Medicine, Hunan, Changsha, China.
Ting Xiao *Department of Dermatology, The Second Affiliated Hospital of Hunan University of Chinese Medicine, Hunan, Changsha, China.
Dan ZhaoDepartment of Dermatology, The Second Affiliated Hospital of Hunan University of Chinese Medicine, Hunan, Changsha, China.
Ying-Hong ZengDepartment of Dermatology, Hunan Children's Hospital, Hunan, Changsha, China.
Ming-Fang ZhuDepartment of Dermatology, The Second Affiliated Hospital of Hunan University of Chinese Medicine, Hunan, Changsha, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Xeroderma pigmentosum is a rare autosomal recessive genodermatoses characterized by a deficiency in nucleotide excision repair. Erythropoietic protoporphyria is a rare inherited metabolic disease caused by the perturbation of heme. Xeroderma pigmentosum-erythropoietic protoporphyria is exceedingly rare. Hereby, we firstly report a young Chinese patient of xeroderma pigmentosum Group A with erythropoietic protoporphyria carrying an XPA Met214AsnfsTer7 frameshift mutation and a homozygous splicing mutation, c.315-48T>C, in the proband's intron3 of FECH.

Indexed as

FerrochelataseProtoporphyria, ErythropoieticXeroderma PigmentosumChinaEast Asian PeopleFemaleFrameshift MutationHumansMaleMutationXeroderma Pigmentosum Group A ProteinFECH protein, humanFerrochelataseXeroderma Pigmentosum Group A ProteinXPA protein, humancaseerythropoietic protoporphyriaGroup Aprotoporphyrinxeroderma pigmentosum

Identifiers

PMID39129919
PMCPMC11310039

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Registered trials

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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.