Evidence map›Paper›PMID 39055105›Full record

ArticleMolecular genetics and metabolism reports2024

An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test.

Rosamaria Terracciano, Margherita Ruoppolo, Ferdinando Barretta, Lucia Albano, Daniela Crisci, Giovanna Gallo, Fabiana Uomo, Pietro Strisciuglio, Giancarlo Parenti, Giulia Frisso and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2024. 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. Substrate-enhanced filamentation of 3-methylcrotonyl-CoA carboxylase inbioRxiv : the preprint server for biology · 2025
    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

11 authors.

Rosamaria TerraccianoDepartment of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.
Margherita RuoppoloDepartment of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy.
Ferdinando BarrettaCEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy.
Lucia AlbanoCEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy.
Daniela CrisciCEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy.
Giovanna GalloCEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy.
Fabiana UomoDepartment of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy.
Pietro StrisciuglioDepartment of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.
Giancarlo ParentiDepartment of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.
Giulia FrissoDepartment of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy.
Alessandro RossiDepartment of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

3-methylcrotonyl-CoA carboxylase deficiency (3MCCD) is a hereditary disorder of leucine catabolism caused by pathogenetic variants in the

Indexed as

3-methylcrotonylglycinuriaAmino acidCarnitineManagementPhenotypic heterogeneity

Identifiers

PMID39055105
PMCPMC11269298

What OpenQuestion holds

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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.