Evidence map›Paper›PMID 39916850›Full record

ArticleHeliyon2025

Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type.

Etienne Mondesert, Bastien Baud, Agathe Roubertie, Jean-François Benoist, Pierre-Edouard Grillet, Jean-Paul Cristol, Marie Céline Francois-Heude, Manuel Schiff, Stéphanie Badiou

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In one paragraph

Article in Heliyon, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Etienne MondesertDepartment of Biochemistry, University Hospital of Montpellier, Montpellier, France.
Bastien BaudDepartment of Biochemistry, University Hospital of Montpellier, Montpellier, France.
Agathe RoubertieInstitute for Neurosciences of Montpellier, University of Montpellier, INSERM U 1298, Montpellier, France.
Jean-François BenoistDepartment of Biochemistry, Assistance Publique-Hôpitaux de Paris, Paris, France.
Pierre-Edouard GrilletDepartment of Biochemistry, University Hospital of Montpellier, Montpellier, France.
Jean-Paul CristolDepartment of Biochemistry, University Hospital of Montpellier, Montpellier, France.
Marie Céline Francois-HeudeInstitute for Neurosciences of Montpellier, University of Montpellier, INSERM U 1298, Montpellier, France.
Manuel SchiffReference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris cité, Paris, France.
Stéphanie BadiouDepartment of Biochemistry, University Hospital of Montpellier, Montpellier, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Methylmalonic aciduria and homocystinuria, cobalamin C type (cblC), constitute the most common inborn error of intracellular cobalamin metabolism. Here, we report the case of a 6-month-old child, presenting severe subacute neurological decline associated with failure to thrive. Biochemical tests indicated a disorder of intracellular cobalamin metabolism, with elevated urinary and plasma methylmalonic acid levels associated with high plasma homocysteine concentrations, with normal plasma vitamin B12 concentrations. Diagnosis was later confirmed by genetic analysis which identified two pathogenic variants on the

Indexed as

Case reportCobalamin C typeHomocysteineInborn error of metabolismMethylmalonic acidMethylmalonic aciduria and homocystinuriaVitamin B12

Identifiers

PMID39916850
PMCPMC11795796

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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.