Evidence map›Paper›PMID 40224914›Full record

ArticleJBMR plus2025

Family mapping of previously identified patients with pathogenic or likely pathogenic

Tatiane Vilaca, Fatma Gossiel, Sophie Delaney, Duncan Baker, Sylvia Keigwin, Richard Eastell, Meena Balasubramanian

Abstract read
In one paragraph

Article in JBMR plus, 2025. 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

7 authors.

Tatiane VilacaDivision of Clinical Medicine, University of Sheffield, Sheffield S10 2RX, United Kingdom.ORCID https://orcid.org/0000-0002-9227-6076
Fatma GossielDivision of Clinical Medicine, University of Sheffield, Sheffield S10 2RX, United Kingdom.
Sophie DelaneySheffield Diagnostic Genetics Service, North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, United Kingdom.
Duncan BakerSheffield Diagnostic Genetics Service, North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, United Kingdom.
Sylvia KeigwinSheffield Diagnostic Genetics Service, North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, United Kingdom.
Richard EastellDivision of Clinical Medicine, University of Sheffield, Sheffield S10 2RX, United Kingdom.ORCID https://orcid.org/0000-0002-0323-3366
Meena BalasubramanianDivision of Clinical Medicine, University of Sheffield, Sheffield S10 2RX, United Kingdom.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypophosphatasia (HPP) is an inborn error of metabolism caused by loss-of-function variants in the

Indexed as

alkaline phosphataseALPL genebrief pain inventoryfamily mappingfractureshypophosphatasiamodified hypophosphatasia impact surveymusculoskeletal painphosphatepyridoxal 5-phosphate (PLP)

Identifiers

PMID40224914
PMCPMC11993272

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.