Evidence map›Paper›PMID 39619776›Full record

ArticleMolecular genetics and metabolism reports2024

D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?

Sandra D K Kingma, Laura K M Steinbusch, Sietse M Aukema, Margje Sinnema, Bianca Panis, Joost Nicolai, Estela Rubio-Gozalbo

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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  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

7 authors.

Sandra D K KingmaMosakids Children's Hospital, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Laura K M SteinbuschDepartment of Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Sietse M AukemaDepartment of Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Margje SinnemaDepartment of Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Bianca PanisMosakids Children's Hospital, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Joost NicolaiDepartment of Neurology, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Estela Rubio-GozalboMosakids Children's Hospital, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

D-glyceric aciduria (DGA) is caused by D-glycerate-2-kinase deficiency due to biallelic pathogenic variants in

Indexed as

D-glycerate-2-kinase deficiencyD-glyceric aciduriaGLYCTK

Identifiers

PMID39619776
PMCPMC11605424

What Socratic holds

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LicenceCC BY
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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 Socratic graph.