Evidence map›Paper›PMID 42454984›Full record

ReviewJournal of inherited metabolic disease2026

The Role of Urea Cycle Functional Studies in Preclinical Research.

Nathan Breuillard, Nadia Zürcher, Erica Faccin, Kim L Stocker, Martin Poms, Johannes Häberle

Abstract readReview
In one paragraph

Review in Journal of inherited metabolic disease, 2026. 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. The Role of Urea Cycle Functional Studies in Preclinical Research.Journal of inherited metabolic disease · 2026
    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

6 authors.

Nathan BreuillardDivision of Metabolism and Children's Research Centre (CRC), University Children's Hospital Zurich, Zurich, Switzerland.ORCID https://orcid.org/0009-0001-7141-3633
Nadia ZürcherDivision of Metabolism and Children's Research Centre (CRC), University Children's Hospital Zurich, Zurich, Switzerland.
Erica FaccinDivision of Metabolism and Children's Research Centre (CRC), University Children's Hospital Zurich, Zurich, Switzerland.ORCID https://orcid.org/0009-0006-5589-5798
Kim L StockerDivision Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland.ORCID https://orcid.org/0009-0001-7180-0529
Martin PomsDivision Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland.ORCID https://orcid.org/0000-0002-4426-314X
Johannes HäberleDivision of Metabolism and Children's Research Centre (CRC), University Children's Hospital Zurich, Zurich, Switzerland.ORCID https://orcid.org/0000-0003-0635-091X

Funding

Citrin Foundation RG24003Swiss National Science Foundation 320030_207965Swiss National Science Foundation CRSII-222794University Research Priority Program ITINERARE
6 · The paper itself

Abstract

Inborn errors of metabolism affecting the urea cycle are rare severe conditions caused by impaired nitrogen detoxification, leading to hyperammonemia and neurological morbidity across a broad clinical spectrum. Current biochemical diagnostics largely rely on quantification of metabolites. While indispensable for diagnosis and acute management, these snapshot readouts are highly dependent on external factors and often fail to reflect urea cycle function in metabolically compensated states, limiting their usefulness for disease stratification, therapeutic monitoring, and preclinical evaluation of treatments. Here, we reflect on the rationale, development, and application of a functional ureagenesis assay based on administration of [

Indexed as

UreaUrea Cycle Disorders, InbornAmmonium ChlorideAnimalsBiomarkersDisease Models, AnimalGenetic TherapyHumansHyperammonemiaMiceOrnithine CarbamoyltransferaseOrnithine Carbamoyltransferase Deficiency DiseaseAmmonium ChlorideBiomarkersOrnithine CarbamoyltransferaseUrea

Identifiers

PMID42454984
PMCPMC13371387

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.