Evidence map›Paper›PMID 40415601›Full record

ArticlePediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Infant With a Severe Form of

Elizabeth O Ferreira, Marc R Del Bigio, Jason Morin, Patrick Frosk

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 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

4 authors.

Elizabeth O FerreiraDepartment of Pathology, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB, Canada.ORCID 0000-0001-8659-4919
Marc R Del BigioDepartment of Pathology, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB, Canada.
Jason MorinDepartment of Pathology, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB, Canada.
Patrick FroskDepartment of Pediatrics and Child Health, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glutaredoxin 5 (GLRX5) is a mitochondrial protein encoded by the GLRX5 gene, which is essential for cellular redox homoeostasis, lipoic acid synthesis, and iron-sulfur cluster transfer. Rare cases of pathogenic GLRX5 mutations have been associated with sideroblastic anemia and non-ketotic hyperglycinemia with progressive spasticity and cavitating leukoencephalopathy. We report an 11-month-old child, who died following aspiration, with severe cardiomyocyte mitochondrial abnormalities and cerebral white matter degeneration in the context of a homozygous GLRX5 variant (c.208A>G, p.S70G).

Indexed as

GlutaredoxinsHyperglycinemia, NonketoticAutopsyFatal OutcomeHumansInfantMutationGlutaredoxinscardiomyopathyGLRX5 (glutaredoxin-5)metabolic acidosismitochondrial diseasenon-ketotic hyperglycinemiaprogressive spasticity

Identifiers

PMID40415601
PMCPMC12426336

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.