Evidence map›Paper›PMID 38847497›Full record

ArticleRenal failure2024

Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family.

Yushi Peng, Meize Pan, Yuchen Wang, Zongrui Shen, Jian Xu, Fu Xiong, Hongbo Xiao, Yun Miao

Abstract readCase Reports
In one paragraph

Article in Renal failure, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Yushi PengDepartment of Transplantation, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Meize PanDepartment of Nephrology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China.
Yuchen WangDepartment of Transplantation, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.ORCID 0000-0003-3253-5117
Zongrui ShenDepartment of Medical Genetics, Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.
Jian XuDepartment of Transplantation, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Fu XiongDepartment of Medical Genetics, Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.
Hongbo XiaoDepartment of Nephrology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China.
Yun MiaoDepartment of Transplantation, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fabry disease, a lysosomal storage disease, is an uncommon X-linked recessive genetic disorder stemming from abnormalities in the alpha-galactosidase gene (

Indexed as

alpha-GalactosidaseCodon, NonsenseFabry DiseasePedigreeAdultApoptosisChinaEast Asian PeopleHumansMalealpha-GalactosidaseCodon, NonsenseGLA protein, humancell apoptosisenzymatic activityFabry diseasemutationsubcellular localizationα-Gal A protein

Identifiers

PMID38847497
PMCPMC11164125

What OpenQuestion holds

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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.