Evidence map›Paper›PMID 41185884›Full record

ArticleJBMR plus2025

Delayed diagnosis of X-linked hypophosphatemia in the absence of family history: a global unmet need.

Suma Uday, M Zulf Mughal, Hamilton Cassinelli, Pablo Florenzano, Erik A Imel, Jill Simmons, Leanne M Ward, Shubham Tewari, Osman Ciğeroğlu, Zhiyi Li and 3 more

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

13 authors.

Suma UdayBirmingham Women's and Children's NHS Foundation Trust, Department of Endocrinology, Birmingham, B4 6NH, United Kingdom.
M Zulf MughalDepartment of Pediatric Endocrinology, Al Jalila Children's Specialty Hospital, Al Jaddaf, Dubai, 7662, UAE.
Hamilton CassinelliDivision de Endocrinologia, Hospital de Niños, C1425 Buenos Aires, Argentina.
Pablo FlorenzanoDepartamento Endocrinología, Escuela de Medicina, Pontificia Universidad Católica de Chile, 8331150 Santiago, Chile.ORCID https://orcid.org/0000-0001-5936-3146
Erik A ImelDepartments of Medicine and Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana 46202-3082, United States.ORCID https://orcid.org/0000-0002-7284-3467
Jill SimmonsDepartment of Pediatrics, Division of Endocrinology and Diabetes, Vanderbilt University School of Medicine, Vanderbilt University, Nashville, Tennessee 37232, United States.ORCID https://orcid.org/0000-0002-4189-6718
Leanne M WardDepartment of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, K1H 8M5, Canada.ORCID https://orcid.org/0000-0003-1557-9185
Shubham TewariKMK Consulting Inc., Morristown, New Jersey 07950, United States.
Osman CiğeroğluUltragenyx Pharmaceutical Inc., Novato, California 94949, United States.
Zhiyi LiKyowa Kirin, Princeton, New Jersey 08540, United States.ORCID https://orcid.org/0009-0008-0779-9720
Ben JohnsonKyowa Kirin, Marlow, Buckinghamshire, SL7 1HZ, United Kingdom.ORCID https://orcid.org/0000-0003-3938-0920
Kerry SandilandsKyowa Kirin, Galashiels, Scottish Borders, TD1 1QH, United Kingdom.
Thomas O CarpenterYale University School of Medicine, Pediatric Endocrinology & Diabetes, New Haven, Connecticut 06520-8064, United States.ORCID https://orcid.org/0000-0003-1328-6768

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked hypophosphatemia (XLH) is a phosphate-wasting disorder mediated by increased fibroblast growth factor 23 (FGF23) activity. Typical clinical features are skeletal deformities, muscle weakness, stiffness, and impaired physical function. Using real-world data from the XLH Disease Monitoring Program (XLH-DMP) and the International XLH Registry, this study sought to determine whether the age at which XLH is diagnosed differs between children with and without a family history of the disease. In both real-world studies, children with a family history of XLH were diagnosed at a younger age than those without a family history (XLH-DMP [n = 347]: mean age at diagnosis 1.6 [standard error (SE) 0.2] vs 2.7 [SE 0.2] years [

Indexed as

diagnosisdisease monitoring programreal-world dataregistryX-linked hypophosphataemia (XLH)

Identifiers

PMID41185884
PMCPMC12579927

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.