Evidence map›Paper›PMID 38444501›Full record

ArticleHeliyon2024

A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review.

Yanhong Wang, Hongwei Li, Zhanhang Huang, Sen Yang, Chengyu Lu, Wei Zhang, Shangming Zhao, Cui Yang, Dehui Chen

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

Article in Heliyon, 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
0.6field-weighted citation impact, top 35% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  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

9 authors at 4 institutions in 1 country.

Yanhong WangDepartment of Pediatrics, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Hongwei LiDepartment of Pediatrics, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Zhanhang HuangDepartment of Pediatrics, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Sen YangDepartment of Pediatrics, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Chengyu LuDepartment of Pediatrics, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Wei ZhangBGI Genomics, BGI-Shenzhen, Shenzhen, China.
Shangming ZhaoBGI Genomics, BGI-Shenzhen, Shenzhen, China.
Cui YangDepartment of Pediatrics, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Dehui ChenDepartment of Pediatrics, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
First Affiliated Hospital of Guangzhou Medical University · CNGuangzhou Medical University · CNBGI GenomicsBGI Group (China) · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a case of a 4-year-old boy with lysinuric protein intolerance in China. The patient presented with interstitial lung disease with obvious clubbing of the fingers and toes. During the course of diagnosis and treatment, we found he was averse to a high-protein diet, intolerant to activity, and had a history of diarrhea and fractures. Physical examination revealed hepatosplenomegaly and clubbing of the fingers and toes. Next-generation sequencing revealed compound heterozygous mutations (c.1387delG, c.958T > C) in

Indexed as

Case reportGene mutationInterstitial lung diseaseLysinuric protein intolerance (LPI)SLC7A7

Identifiers

PMID38444501
PMCPMC10912482
OpenAlexW4392133201

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.