ArticleBone reports2024
Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets.
Article in Bone reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- XLH Matters 2024 GCC Edition: Insights and Recommendations to Improve Outcomes for People Living With XLH in the Gulf Region.Clinical medicine insights. Endocrinology and diabetes · 2026Article
- Increased lifelong burden of comorbidities without increased early mortality in hereditary hypophosphatemia: a Danish register study.JBMR plus · 2025Article
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Authors and funding
5 authors.
Funding
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Abstract
Hypophosphatemic rickets, which is often hereditary, is still under- or misdiagnosed in both children and adults, denying these individuals access to optimal management and genetic counseling. There have been recent calls to compile real-world data and share best practice on these rare conditions to guide clinical decision-making. Here we present eight clinical vignettes of patients with hypophosphatemic rickets encountered in our tertiary pediatric endocrinology practice. We describe the clinical features, genetics, and management of four cases of X-linked hypophosphatemia (
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