Evidence map›Paper›PMID 39282052›Full record

ArticleMolecular genetics and metabolism reports2024

Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report.

Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Wang-Tso Lee, Yin-Hsiu Chien

Abstract readCase Reports
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 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. One novelFrontiers in pediatrics · 2025
    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.

Rai-Hseng HsuDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Ni-Chung LeeDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Hui-An ChenDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Wuh-Liang HwuDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Wang-Tso LeeDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Yin-Hsiu ChienDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

D-bifunctional protein (DBP) deficiency, a fatal peroxisomal enzyme disorder, typically manifests with life-threatening symptoms in the first two years of childhood. We present the case of an infant with elevated lysophosphatidylcholine C26:0 (C26:0-LPC) levels identified during X-linked adrenoleukodystrophy (ALD) screening, leading to a diagnosis of DBP deficiency due to a homozygous

Indexed as

D-bifunctional protein deficiencyPTC124 (ataluren)Readthrough therapyUniparental disomy

Identifiers

PMID39282052
PMCPMC11402207

What OpenQuestion holds

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Registered trials

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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.