Evidence map›Paper›PMID 38910857›Full record

ArticlePediatric investigation2024

Lysinuric protein intolerance with novel mutations in solute carrier family 7A member 7 in a Chinese family.

Yilin Pang, Feng Huo, Xiao Liu, Yimu Fan, Zhezhe Zhang, Jie Wu, Quan Wang

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

Article in Pediatric investigation, 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
–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

2 citing papers in PubMed.

  1. Article
  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

7 authors.

Yilin PangEmergency Department Emergency Intensive Care Unit, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China.ORCID https://orcid.org/0009-0004-3346-6007
Feng HuoEmergency Department Emergency Intensive Care Unit, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China.
Xiao LiuEmergency Department Emergency Intensive Care Unit, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China.
Yimu FanEmergency Department Emergency Intensive Care Unit, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China.
Zhezhe ZhangEmergency Department Emergency Intensive Care Unit, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China.
Jie WuEmergency Department Emergency Intensive Care Unit, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China.ORCID https://orcid.org/0009-0004-6212-1753
Quan WangEmergency Department Emergency Intensive Care Unit, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Lysinuric protein intolerance (LPI) is a rare genetic disorder caused by mutations in the solute carrier family 7A member 7 ( Case presentation: We presented two siblings with LPI, carrying novel mutations of c.776delT (p.L259Rfs*18) and c.155G>T (p.G52V) in Conclusion: LPI is a congenital genetic metabolic disease with multi-system involvement. Initiating appropriate protein-restricted diet therapy as soon as possible could help prevent the progression of LPI.

Indexed as

DietLysinuric protein intolerancePulmonary alveolar proteinosisSLC7A7

Identifiers

PMID38910857
PMCPMC11193372

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.