Evidence map›Paper›PMID 41942125›Full record

ArticleJournal of inherited metabolic disease2026

A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF.

Stine Christ, Julia Rossmann, Sylvia Richter, Sven Garbade, Glynis Klinke, Nenad Blau, Georg Friedrich Hoffmann, Jürgen Günther Okun, Thomas Opladen

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article 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. 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

9 authors.

Stine ChristMedical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine Department I Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.ORCID https://orcid.org/0000-0002-2092-4716
Julia RossmannMedical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine Department I Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.
Sylvia RichterMedical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine Department I Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.
Sven GarbadeMedical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine Department I Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.ORCID https://orcid.org/0000-0002-7420-4757
Glynis KlinkeMetabolomics Core Technology Platform, Centre for Organismal Studies (COS), Heidelberg University, Heidelberg, Germany.
Nenad BlauDivision of Metabolism, University Children's Hospital, Zurich, Switzerland.
Georg Friedrich HoffmannMedical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine Department I Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.
Jürgen Günther OkunMedical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine Department I Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.
Thomas OpladenMedical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine Department I Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.ORCID https://orcid.org/0000-0003-4349-7662

Funding

Dietmar Hopp Foundation, Leon-Rot, Germany 23011222-D.10052194
6 · The paper itself

Abstract

Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics. To improve diagnosis the aim is to establish a liquid chromatography-tandem mass spectrometry (LC-MS/MS) based CSF panel (NeuroMetabolom) which enables a quick, reliable, extensive and cheap method requiring small amounts of analysis material replacing classical single platform analyses. The novel LC-MS/MS NeuroMetabolom method enables measuring all known standard metabolites in CSF, including purines/pyrimidines, sepiapterin, γ-Aminobutyric acid (GABA), and vitamin B

Indexed as

Liquid Chromatography-Mass SpectrometryTandem Mass SpectrometryBiomarkersChromatography, Liquidgamma-Aminobutyric AcidHumansMetabolomicsPurinesPyrimidinesReproducibility of ResultsVitamin B 6Biomarkersgamma-Aminobutyric AcidPurinesPyrimidinesVitamin B 6CSFLC–MS/MSNeuroMetabolomneurotransmitterpaneltargeted metabolomics

Identifiers

PMID41942125
PMCPMC13053135

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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.