Evidence map›Paper›PMID 39911175›Full record

ArticleMolecular syndromology2025

A Novel

Hüseyin Bahadır Şenol, Pelin Teke Kısa, Bahar Kulu, Hale Ören, Nur Arslan, Uluç Yiş

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2025. 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. 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.

Hüseyin Bahadır ŞenolDepartment of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey.
Pelin Teke KısaDepartment of Pediatric Nutrition and Metabolism, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey.
Bahar KuluDepartment of Pediatric Nutrition and Metabolism, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey.
Hale ÖrenDepartment of Pediatric Hematology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey.
Nur ArslanDepartment of Pediatric Nutrition and Metabolism, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey.
Uluç YişDepartment of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder characterized by aberrant triacylglycerol metabolism due to mutations in the Case Presentation: This report presents a case study of a 14-year-old female patient exhibiting symptoms of NLSDM, including recurrent abdominal pain, fatigue, leg pain, and hepatosteatosis. Diagnostic investigations revealed elevated creatinine kinase levels, myopathic findings on electromyography, magnetic resonance imaging findings showing gluteal involvement and Jordans' bodies on peripheral smear. Clinical exome panel showed homozygous of Conclusion: This case underscores the significance of genetic testing in elucidating the molecular basis of NLSDM and emphasizes the necessity of comprehensive clinical evaluation for accurate diagnosis and management.

Indexed as

Metabolic diseaseNeurodevelopmental disordersNeutral lipid storage disease with myopathyNovel mutationTriacylglycerolWhole-exome sequencing

Identifiers

PMID39911175
PMCPMC11793905

What OpenQuestion holds

Textmetadata
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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.