Evidence map›Paper›PMID 35958175›Full record

ArticleFrontiers in pediatrics2022

Case report: Compound heterozygous mutations in the

Li Wu, Yajie Zhang, Juan Zi, Yinyan Yan, Lihua Yu, Danna Lin, Lulu Huang, Xiaorong Lai, Xu Liao, Lihua Yang

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2022. 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, 2 citations in OpenAlex.

  1. Review
  2. Review
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

10 authors at 2 institutions in 1 country.

Li WuDepartment of Pediatric Hematology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
Yajie ZhangDepartment of Pediatric Hematology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
Juan ZiDepartment of Pediatric Hematology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
Yinyan YanDepartment of Pediatric Hematology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
Lihua YuDepartment of Pediatric Hematology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
Danna LinDepartment of Pediatric Hematology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
Lulu HuangDepartment of Pediatric Hematology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
Xiaorong LaiDepartment of Pediatric Hematology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
Xu LiaoDepartment of Pediatric Hematology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
Lihua YangDepartment of Pediatric Hematology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
Southern Medical University · CNZhujiang Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

KDSR (3-ketodihydrosphingosine reductase) is a short-chain dehydrogenase located in the endoplasmic reticulum. Mutations in KDSR cause defects in ceramides, which play a key role in the biological processes of the skin and other tissues. Herein, we report a case of compound heterozygous mutations in

Indexed as

case reportchildrenKDSRkeratodermiathrombocytopenia

Identifiers

PMID35958175
PMCPMC9360485
OpenAlexW4287877541

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.