Evidence map›Paper›PMID 40343092›Full record

Articlenpj metabolic health and disease2025

Characterization and treatment monitoring of ureagenesis disorders using stable isotopes.

Gabriella Allegri, Martin Poms, Nadia Zürcher, Véronique Rüfenacht, Nicole Rimann, Déborah Mathis, Beat Thöny, Matthias Gautschi, Ralf A Husain, Daniela Karall and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in npj metabolic health and disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. The Role of Urea Cycle Functional Studies in Preclinical Research.Journal of inherited metabolic disease · 2026
    Review
  3. Review
  4. Article
  5. 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

17 authors.

Gabriella Allegri *Division of Metabolism and Children's Research Centre (CRC), University Children's Hospital Zurich, Zurich, Switzerland.
Martin Poms *Division Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland.
Nadia ZürcherDivision of Metabolism and Children's Research Centre (CRC), University Children's Hospital Zurich, Zurich, Switzerland.
Véronique RüfenachtDivision of Metabolism and Children's Research Centre (CRC), University Children's Hospital Zurich, Zurich, Switzerland.
Nicole RimannDivision of Metabolism and Children's Research Centre (CRC), University Children's Hospital Zurich, Zurich, Switzerland.
Déborah MathisDivision Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland.
Beat ThönyDivision of Metabolism and Children's Research Centre (CRC), University Children's Hospital Zurich, Zurich, Switzerland.
Matthias GautschiDivision of Paediatric Endocrinology, Diabetology and Metabolism, Department of Paediatrics, and Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Ralf A HusainCentre for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena, Germany.
Daniela KarallMedical University of Innsbruck, Clinic for Paediatrics, Division of Inherited Metabolic Disorders, Innsbruck, Austria.
Karolina Orchel-SzastakDepartment of Paediatrics, Rheumatology and Rare Diseases, University Children's Hospital, Krakow, Poland.
Francesco PortaDepartment of Pediatrics, AOU Citta della Salute e della Scienza, University of Torino, Turin, Italy.
Dominique RolandCentre des Maladies Héréditaires du Métabolisme, Département de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
Barbara SiriDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Carlo Dionisi-ViciDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
René SanterDepartment of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
Johannes HäberleDivision of Metabolism and Children's Research Centre (CRC), University Children's Hospital Zurich, Zurich, Switzerland.

Funding

Swiss National Science Foundation 10000153Swiss National Science Foundation 207965
6 · The paper itself

Abstract

Urea cycle disorders (UCDs) are a group of rare conditions, possibly life-threatening and without definitive cure besides liver transplantation. Traditional biochemical analyses/biomarkers cannot reliably determine changes in the UC-function from baseline to post-intervention. We describe a UHPLC-HRMS method to assess ureagenesis in plasma and dried blood spots for [

Indexed as

BiochemistryEndocrine system and metabolic diseasesMetabolic disorders

Identifiers

PMID40343092
PMCPMC12055570

What OpenQuestion holds

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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.