Evidence map›Paper›PMID 40295317›Full record

ReviewCalcified tissue international2025

The Diagnosis and Therapy of XLH.

Ineke Böckmann, Dieter Haffner

Abstract readReview
In one paragraph

Review in Calcified tissue international, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
–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

7 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Case Report: Deep intronicFrontiers in endocrinology · 2026
    Article
  5. Article
  6. Article
  7. Review
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

2 authors.

Ineke BöckmannDepartment of Pediatric Kidney, Liver, Metabolic and Neurological Diseases, Hannover Medical School, Carl-Neuberg-Str. 1, Hannover, Germany.
Dieter HaffnerDepartment of Pediatric Kidney, Liver, Metabolic and Neurological Diseases, Hannover Medical School, Carl-Neuberg-Str. 1, Hannover, Germany. haffner.dieter@mh-hannover.de.ORCID http://orcid.org/0000-0002-9601-7813

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked hypophosphatemia is a rare genetic disease caused by pathogenic variants in the PHEX (phosphate-regulating endopeptidase homolog X-linked) gene with X-linked dominant inheritance that causes metabolic bone disease and other severe complications. PHEX dysfunction results in increased production and secretion of the phosphaturic hormone fibroblast growth factor 23 (FGF23) from bone. The consequences of FGF23 excess are renal phosphate wasting and decreased calcitriol synthesis, leading to hypophosphatemia and subsequently rickets and osteomalacia. Children with XLH usually become symptomatic in the second year of life presenting with progressive disproportionate short stature, bone pain, frontal bossing, enlarged joints, bowed legs, and a waddling gait. Various other symptoms may develop later, including dental abscesses, peritonitis, hearing loss, pseudofractures, spinal stenosis, osteoarthritis, and enthesopathies, often leading to a diminished quality of life and ultimately disability. Here, we provide an overview of the current knowledge of the pathophysiology and treatment insights of this rare and challenging disease, including the targeting of FGF23 as a therapeutic approach that has significantly improved patient outcomes.

Indexed as

Familial Hypophosphatemic RicketsFibroblast Growth Factor-23Fibroblast Growth FactorsHumansFGF23 protein, humanFibroblast Growth Factor-23Fibroblast Growth FactorsBurosumabFGF23OsteomalaciaPhosphateRicketsXLH

Identifiers

PMID40295317
PMCPMC12037658

What OpenQuestion holds

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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.