Evidence map›Paper›PMID 40594807›Full record

ArticleScientific reports2025

Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia.

Francesca Pirozzi, Ramin Amiri, Camilla Luni, Alessandro Rossi, Daniela Melis, Roberta Fedele, Carmen Rosano, Pietro Strisciuglio, Maaike H Oosterveer, Terry G J Derks and 3 more

Abstract read
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In one paragraph

Article in Scientific reports, 2025. 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

13 authors.

Francesca Pirozzi *Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.
Ramin Amiri *Department of Civil, Chemical, Environmental and Materials Engineering (DICAM), University of Bologna, Bologna, Italy.
Camilla LuniDepartment of Civil, Chemical, Environmental and Materials Engineering (DICAM), University of Bologna, Bologna, Italy.
Alessandro RossiSection of Pediatrics, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
Daniela MelisDepartment of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Salerno, Italy.
Roberta FedeleCEINGE-Biotecnologie Avanzate Franco Salvatore S.C.A R.L., Naples, Italy.
Carmen RosanoSection of Pediatrics, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
Pietro StrisciuglioSection of Pediatrics, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
Maaike H OosterveerDepartment of Pediatrics and Laboratory Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Terry G J DerksSection of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Giancarlo ParentiSection of Pediatrics, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
Marianna CaterinoDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy. marianna.caterino@unina.it.
Margherita RuoppoloDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy. margherita.ruoppolo@unina.it.

Funding

PRIN (Progetti di Ricerca di Rilevante Interesse Nazionale) Prot. 2022H77XMH
6 · The paper itself

Abstract

Glycogen storage disease type Ia (GSDIa) is an inherited disorder of carbohydrate metabolism. Patients present with excessive storage of glycogen and fat in the liver and kidneys and are potentially at risk of developing long-term complications. Currently, the mainstay of treatment is highly tailored dietary regimens aimed at improving metabolic control. In the present study, to better elucidate the mechanisms potentially involved in the development of long-term complications, a mass spectrometry-based strategy was employed for an in-depth characterization of the serum proteomic and metabolomic profile of n.12 GSDIa patients. The detection of differential abundance of highly liver-specific circulating proteins and choline-related metabolites in patients provides new insights into the extent of liver damage and dysregulation of lipid metabolism in GSDIa. Specifically, the differential abundance of serum aldolase B and its positive correlation with traditional liver function markers supports its role as a potential biomarker for long-term monitoring of GSDIa liver injury.

Indexed as

CholineGlycogen Storage Disease Type ILiverAdolescentAdultBiomarkersChildFemaleHumansMaleMetabolomicsMultiomicsProteomicsYoung AdultBiomarkersCholineALDOBGlycogen storage disease type IaLipid metabolismLiver injuryMultiomicsSerum biomarkers

Identifiers

PMID40594807
PMCPMC12216020

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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.