Evidence map›Paper›PMID 41142852›Full record

ArticleMolecular genetics and metabolism reports2025

Laila Kazem, Wafaa Al-Qabandi, Buthaina Albash, Reem Elshafie, Miao He, Hind Alsharhan

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

Article in Molecular genetics and metabolism reports, 2025. 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. Recurrent acute liver failure in infancy - a novelWorld journal of clinical pediatrics · 2026
    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

6 authors.

Laila KazemDepartment of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, P.O. Box 24923, Safat, 13110, 90805, Kuwait.
Wafaa Al-QabandiDepartment of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, P.O. Box 24923, Safat, 13110, 90805, Kuwait.
Buthaina AlbashKuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.
Reem ElshafieKuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.
Miao HeDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Hind AlsharhanDepartment of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, P.O. Box 24923, Safat, 13110, 90805, Kuwait.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Biallelic pathogenic variants in Results: We report two Kuwaiti siblings homozygous for a pathogenic splice site variant in Conclusion: To our knowledge, this is the first description of an asymptomatic individual homozygous for a pathogenic

Indexed as

Acute liver failureCALFANGenetic testingGlycosylationLow-GGT cholestasisSCYL1

Identifiers

PMID41142852
PMCPMC12550320

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.