Evidence map›Paper›PMID 40191063›Full record

ArticleJIMD reports2025

Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype.

Y Aelvoet, P Verloo, A Vanlander, S Vande Velde, S Van Biervliet, P De Bruyne, L Hoste, A Dheedene, L Pottie, A Hoorens and 2 more

Abstract read
In one paragraph

Article in JIMD 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. 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

12 authors.

Y AelvoetDepartment of Pediatrics Princess Elisabeth Children's Hospital Ghent Belgium.
P VerlooFaculty of Medicine and Health Science Ghent University Ghent Belgium.ORCID https://orcid.org/0000-0003-2077-0275
A VanlanderFaculty of Medicine and Health Science Ghent University Ghent Belgium.
S Vande VeldeFaculty of Medicine and Health Science Ghent University Ghent Belgium.
S Van BiervlietFaculty of Medicine and Health Science Ghent University Ghent Belgium.
P De BruyneFaculty of Medicine and Health Science Ghent University Ghent Belgium.
L HosteFaculty of Medicine and Health Science Ghent University Ghent Belgium.
A DheedeneFaculty of Medicine and Health Science Ghent University Ghent Belgium.
L PottieFaculty of Medicine and Health Science Ghent University Ghent Belgium.
A HoorensFaculty of Medicine and Health Science Ghent University Ghent Belgium.
M MendesDepartment Laboratory Medicine, Laboratory Genetic Metabolic Diseases Amsterdam UMC, University of Amsterdam Amsterdam the Netherlands.
R De BruyneFaculty of Medicine and Health Science Ghent University Ghent Belgium.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Biallelic variants in

Indexed as

FARSA deficiencyidiopathic liver diseaseneonatal cholestasisneonatal liver failurephenylalanyl‐tRNARajab interstitial lung diseasetRNA synthetase

Identifiers

PMID40191063
PMCPMC11971029

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.