Evidence map›Paper›PMID 36817643›Full record

ArticleMolecular genetics and metabolism reports2023

Novel homozygous

Minh-Tuan Huynh, Emilie Landais, Jean-Madeleine De Sainte Agathe, Anne Panchout, De Vanssay De Blavous-Legendre Caroline, Henri Bruel

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2023. 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
0.6field-weighted citation impact, top 35% of its field
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, 3 citations in OpenAlex.

  1. Article
  2. 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

6 authors at 3 institutions in 2 countries.

Minh-Tuan HuynhMedical Genetics Department, Vinmec Times City International Hospital-Times City, HaNoi, Viet Nam.
Emilie LandaisLaboratoire de Génétique, CHRU de Reims, 45 rue Cognacq-Jay, 51092 Reims, France.
Jean-Madeleine De Sainte AgatheLaboratoire de Génétique Moléculaire, APHP, Hôpital Pitié-Salpêtrière, Paris, France.
Anne PanchoutCentre Hospitalier du Havre, Service de Gynécologie, 29 Avenue Pierre Mendès-France, 76290 Montivilliers, France.
De Vanssay De Blavous-Legendre CarolineCentre Hospitalier du Havre, Service de Pédiatrie, 29 Avenue Pierre Mendès-France, 76290 Montivilliers, France.
Henri BruelCentre Hospitalier du Havre, Service de Néonatologie, 29 Avenue Pierre Mendès-France, 76290 Montivilliers, France.
Groupe Hospitalier du Havre · FRAssistance Publique – Hôpitaux de Paris · FRCentre Hospitalier Universitaire de Reims · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glycine encephalopathy (MIM #605899) is an autosomal recessive inborn error of metabolism caused by pathogenic variants in three genes

Indexed as

ChorioangiomaDandy-Walker malformationglycine encephalopathyNovel GLDC likely pathogenic variantPolyhydramnios

Identifiers

PMID36817643
PMCPMC9932748
OpenAlexW4319322106

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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 OpenQuestion graph.