ReviewEuropean journal of orthopaedic surgery & traumatology : orthopedie traumatologie2015
Hypophosphatemic rickets: etiology, clinical features and treatment.
Review in European journal of orthopaedic surgery & traumatology : orthopedie traumatologie, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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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.
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.
- X-linked hypophosphatemia and spinal cord compression: a systematic review and illustrative case.Acta neurochirurgica · 2026Pooled it
- Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets.Pediatric nephrology (Berlin, Germany) · 2018Trial
- Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion.Journal of endocrinological investigation · 2026Review
- Rickets prevalence and treatment outcome: real-world data from Taiwan.Clinical and experimental pediatrics · 2025Article
- Management of rickets: the new horizons for the pediatrician.Journal of health, population, and nutrition · 2025Review
- Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation.Endocrine · 2025Article
- Factors associated with impaired physical functionality in X-linked hypophosphatemia.JBMR plus · 2025Article
- UnusualJBMR plus · 2025Article
- Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology.Frontiers in endocrinology · 2024Review
- A De Novo MosaicJournal of pediatric genetics · 2023Article
- Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy.Molecular genetics and metabolism reports · 2023Article
- Young XLH Patients-Reported Experience with a Supportive Care Program.Patient preference and adherence · 2023Article
- Bone Turnover Markers and Bone Mineral Density in Children with Hypophosphatemic Rickets.Journal of clinical medicine · 2022Article
- Review
- X-linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment.Clinical case reports · 2022Article
- Windswept Deformity a Disease or a Symptom? A Systematic Review on the Aetiologies and Hypotheses of Simultaneous Genu Valgum and Varum in Children.Children (Basel, Switzerland) · 2022Review
- Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018.Lancet regional health. Americas · 2022Article
- Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).Human mutation · 2022Article
- Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypophosphatemic rickets (HR) is a genetic disorder, which prevents sufficient reabsorption of phosphate in the proximal renal tubule, with increased phosphate excretion, resulting in rickets. The more common form of HR is an X-linked inherited trait, with a prevalence of 1/20,000. The defective gene is located on the X chromosome, but females may present with a wide variety of clinical manifestations. The less common form of HR is caused by autosomal-dominant transmission. Activating mutations of the fibroblast growth factor 23 (FGF-23) gene and inactivating mutations in the phosphate regulating gene (PHEX gene with homologies to endopeptidases on the X chromosome), involved in the regulation of FGF-23, have been identified and have been implicated in the pathogenesis of these disturbances. A review of etiopathogenesis and clinical, differential diagnostic and therapeutic aspects of HR, with a particular emphasis on bone impairment, is reported.
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Registered trials
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.