Evidence map›Paper›PMID 40524786›Full record

ArticleJIMD reports2025

Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management.

A Terrell, K Sapp, B Graham, M McPheron, L Wetherill

Abstract read
In one paragraph

Article in JIMD reports, 2025. 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. Review
  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

5 authors.

A TerrellDepartment of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA.
K SappDepartment of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA.
B GrahamDepartment of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA.
M McPheronDepartment of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA.
L WetherillDepartment of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA.ORCID https://orcid.org/0000-0003-2888-9051

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Innovative treatments have allowed the introduction of conditions such as lysosomal storage disorders (LSDs) to newborn screening (NBS). This study explored the challenges healthcare providers faced with the addition of LSDs to NBS and identified adjustments that minimized the burden of such challenges. An online survey was distributed to healthcare providers with experience working with patients with LSDs. The most common

Indexed as

challengescollaborationinterpretation of resultslysosomal storage disordermultitier testnewborn screen

Identifiers

PMID40524786
PMCPMC12169912

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.