ReviewJournal of bone and mineral metabolism2012
The expanding family of hypophosphatemic syndromes.
Review in Journal of bone and mineral metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
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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Who cites it
66 citing papers in PubMed, 152 citations in OpenAlex.
- Rickets prevalence and treatment outcome: real-world data from Taiwan.Clinical and experimental pediatrics · 2025Article
- Reversible heart failure secondary to hypocalcemia in a post-thyroidectomy patient: a rare case report.Annals of medicine and surgery (2012) · 2025Article
- Experts' consensus on the management and treatment of individuals with X-linked hypophosphatemia across lifespan.Journal of endocrinological investigation · 2025Article
- Role of fibroblast growth factor-23 as an early marker of metabolic bone disease of prematurity.BMC pediatrics · 2024Observational
- Characteristics of oral health of patients with X-linked hypophosphatemia: case reports and literature review.BDJ open · 2024Review
- Intact FGF23 concentration in healthy infants, children, and adolescents, and diagnostic usefulness in patients with X-linked hypophosphatemic rickets.Journal of endocrinological investigation · 2024Article
- 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
- The odontoblastic differentiation of dental mesenchymal stem cells: molecular regulation mechanism and related genetic syndromes.Frontiers in cell and developmental biology · 2023Review
- Metastatic Malignant Phosphaturic Mesenchymal Tumor of Mandibular Alveolus: a Rare Case Report and Review of Literature.Indian journal of surgical oncology · 2022Review
- Hypocalcemia as a cause of reversible heart failure: A case report and review of the literature.Annals of medicine and surgery (2012) · 2022Article
- Safety and Efficacy of Burosumab in Pediatric Patients With X-Linked Hypophosphatemia: A Phase 3/4 Open-Label Trial.Journal of the Endocrine Society · 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
- Perioperative changes of FGF23 in patients undergoing surgery for primary hyperparathyroidism.Endocrine connections · 2022Article
- Dental health of pediatric patients with X-linked hypophosphatemia (XLH) after three years of burosumab therapy.Frontiers in endocrinology · 2022Article
- The osteocyte as a signaling cell.Physiological reviews · 2022Review
- Identification of a Novel Missense Mutation of theFrontiers in genetics · 2022Article
- Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Review
- Clinical and molecular characterization of Chilean patients with X-linked hypophosphatemia.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Article
- Characterization of Oral Health Status in Chilean Patients with X-Linked Hypophosphatemia.Calcified tissue international · 2021Observational
- Maternal and fetal vitamin D and their roles in mineral homeostasis and fetal bone development.Journal of endocrinological investigation · 2021Review
6 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Investigation of X-linked hypophosphatemia (XLH) has led to the identification of a novel phosphate-regulating homeostatic system. Initially considered vitamin D-refractory rickets, renal phosphate wasting was identified as the cardinal biochemical feature of XLH and several related disorders. Current therapy employs calcitriol and phosphate, which usually improves, but does not completely heal deformities and short stature. Later complications of XLH include development of osteophytes, entheses, and osteoarthritis. The mutated gene in XLH, PHEX, is expressed in osteocytes, but its role in the pathogenesis of phosphate wasting is poorly understood. Many hypophosphatemic disorders are mediated by FGF23, a unique fibroblast growth factor with endocrine properties. Renal action of FGF23 leads to reduced expression of type II sodium-phosphate co-transporters, as well as reduced expression of CYP27B1, which encodes vitamin D 1α-hydroxylase. FGF23-mediated hypophosphatemia is characterized by inappropriately normal circulating 1,25-dihydroxyvitamin D together with renal phosphate wasting. The FGF23 system serves as a novel mechanism by which the mineralizing skeleton can communicate phosphate supply to the kidney and thereby mediate excretion or conservation of this important skeletal component. Other forms of FGF23-mediated hypophosphatemia represent various aberrations in this axis. Secretion of excess FGF23 (as in tumor-induced osteomalacia), and mutations preventing proteolytic cleavage of FGF23 result in similar clinical features. Other hypophosphatemic disorders are discussed.
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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.