Evidence map›Paper›PMID 39323869›Full record

ArticleFrontiers in genetics2024

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel

Victor Marin, Louis Lebreton, Claire Guibet, Samir Mesli, Isabelle Redonnet-Vernhet, Mathurin Dexant, Delphine Lamireau, Sandrine Roche, Margaux Gaschignard, Jean Delmas and 2 more

Abstract readCase Reports
In one paragraph

Article in Frontiers in genetics, 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. Infant With a Severe Form ofPediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
    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

12 authors.

Victor MarinService de Biochimie, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France.
Louis LebretonService de Biochimie, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France.
Claire GuibetService de Biochimie, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France.
Samir MesliService de Biochimie, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France.
Isabelle Redonnet-VernhetService de Biochimie, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France.
Mathurin DexantService de Biochimie, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France.
Delphine LamireauHôpital Pédiatrique, Pôle Pédiatrique, CHU de Bordeaux, Bordeaux, France.
Sandrine RocheHôpital Pédiatrique, Pôle Pédiatrique, CHU de Bordeaux, Bordeaux, France.
Margaux GaschignardHôpital Pédiatrique, Pôle Pédiatrique, CHU de Bordeaux, Bordeaux, France.
Jean DelmasService d'Imagerie Anténatale, de l'Enfant et de la Femme, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France.
Henri MargotDepartment of Medical Genetics, University of Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Bordeaux, France.
Claire BarService de Neurologie Pédiatrique, CHU Bordeaux, University Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, Bordeaux, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Nonketotic hyperglycinemia (NKH) is a rare, autosomal recessive metabolic disorder usually associated with mutations in genes

Indexed as

clinical geneticsGLRX5glycine cleavage systemmetabolic disordersNKHNonketotic hyperglycinemia

Identifiers

PMID39323869
PMCPMC11422140

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.