Evidence map›Paper›PMID 39882275›Full record

ReviewTherapeutics and clinical risk management2025

Obstacles to Early Diagnosis of Gaucher Disease.

Samantha Nishimura, Charis Ma, Ellen Sidransky, Emory Ryan

Abstract readReview
In one paragraph

Review in Therapeutics and clinical risk management, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The "Ichnos" Project.Mediterranean journal of hematology and infectious diseases · 2026
    Article
  4. 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

4 authors.

Samantha Nishimura *National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Charis Ma *National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Ellen SidranskyNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Emory RyanNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the

Indexed as

diagnosisGaucher diseasenewborn screening

Identifiers

PMID39882275
PMCPMC11776414

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.