Evidence map›Paper›PMID 40358162›Full record

ArticleCells2025

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in

Silvia Radenkovic, Isabelle Adant, Matthew J Bird, Johannes V Swinnen, David Cassiman, Tamas Kozicz, Sarah C Gruenert, Bart Ghesquière, Eva Morava

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

Article in Cells, 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. 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

9 authors.

Silvia RadenkovicLaboratory of Applied Mass Spectrometry, Department of Molecular and Cellular Medicine, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0001-8190-7736
Isabelle AdantLaboratory of Applied Mass Spectrometry, Department of Molecular and Cellular Medicine, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0003-4741-6268
Matthew J BirdLaboratory of Applied Mass Spectrometry, Department of Molecular and Cellular Medicine, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0003-3185-0780
Johannes V SwinnenLaboratory of Lipid Metabolism and Cancer, Leuven Cancer Institute and Leuven Institute for Single Cell Omics, Department of Oncology, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0002-7720-5077
David CassimanLaboratory of Hepatology, Department of Chronic Diseases, Metabolism and Ageing, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0002-6154-0970
Tamas KoziczDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN 55901, USA.
Sarah C GruenertDepartment of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.ORCID 0000-0001-5986-0468
Bart GhesquièreLaboratory of Applied Mass Spectrometry, Department of Molecular and Cellular Medicine, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0003-1547-1705
Eva MoravaDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN 55901, USA.

Funding

Pilot and Feasibility CoreU54NS115198 · NINDS · MAYO CLINIC ROCHESTER · PI MORAVA-KOZICZ, EVA · 2019 to 2023
$8.2M
NINDS NIH HHS U54 NS115198
6 · The paper itself

Abstract

Inherited metabolic disorders (IMDs) are genetic disorders that occur in as many as 1:2500 births worldwide. Nevertheless, they are quite rare individually and even more rare is the co-occurrence of two IMDs in one individual. To better understand the metabolic cross-talk between glycosylation changes and deficient energy metabolism, and its potential effect on outcomes, we evaluated patient fibroblasts with likely pathogenic variants in

Indexed as

Congenital Disorders of GlycosylationMetabolomicsOxidative PhosphorylationPhosphoglucomutaseAdolescentFibroblastsGlycosylationHumansMutationPGM1 protein, humanPhosphoglucomutasecongenital disorder of glycosylationinborn errors of metabolismLeigh syndromemetabolomicsNDUFA13PGM1

Identifiers

PMID40358162
PMCPMC12071635

What Socratic 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 Socratic graph.