Hipofosfatemia ligada ao X

Effective Dosing of Burosumab in XLH

NCT07183579

RECRUTANDO

Registry for Patients With X-Linked Hypophosphatemia

NCT03193476

RECRUTANDO

X-linked Hypophosphatemia Disease Monitoring Program

NCT03651505

EM ANDAMENTO

Calcitriol Monotherapy for X-Linked Hypophosphatemia

NCT03748966

EM ANDAMENTO

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NCT06525636 · A First-in-human Study of KK8123 in Adults With X-linked Hyp…Recrutando

NCT07183579 · Effective Dosing of Burosumab in XLHRecrutando

NCT03193476 · Registry for Patients With X-Linked HypophosphatemiaRecrutando

Outros ensaios clínicos

49 ensaios clínicos encontrados, 8 ativos.

Distribuição por fase

NCT03651505 · X-linked Hypophosphatemia Disease Monitoring ProgramAtivo

NCT03748966 · Calcitriol Monotherapy for X-Linked HypophosphatemiaAtivo

EARLY_PHASE1

NCT03745521 · Study of Longitudinal Observation for Patient With X-linked …Ativo

NCT04946409 · Burden of Disease and Functional Impairment in XLHAtivo

NCT06921720 · Phosphorus-31 Spectroscopy in Phosphate DiabetesEm breve

NA

NCT05687474 · Baby Detect : Genomic Newborn ScreeningConcluído

NCT03775187 · Expanded Access to BurosumabAVAILABLE

NCT04188964 · Study to Assess the Safety, Tolerability, Pharmacokinetics a…Concluído

NCT05181839 · A Study to Describe the Lived Experience of XLH for Adolesce…Concluído

NCT02915705 · Efficacy and Safety of Burosumab Versus Oral Phosphate and A…Concluído

PHASE3

NCT04842032 · Study to Assess the Safety, Pharmacokinetics and Efficacy of…Concluído

PHASE4

NCT04842019 · Study to Assess the Safety, Pharmacokinetics and Efficacy of…Concluído

PHASE4

NCT01571596 · An Extension Study of KRN23 in Adults With X-Linked Hypophos…Concluído

NCT02526160 · Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH…Concluído

PHASE3

NCT01340482 · A Repeated Study of KRN23 in Adults With X-Linked Hypophosph…Concluído

NCT02537431 · Open Label Study of KRN23 on Osteomalacia in Adults With X-l…Concluído

PHASE3

NCT00830674 · A Study of KRN23 in X-linked HypophosphatemiaConcluído

PHASE1

Ver todos no ClinicalTrials.gov

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Publicações mais relevantes

📖Melhor nível de evidência: Revisão

Timeline de publicações

511 papers (10 anos)

#1

Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.

Orphanet journal of rare diseases2026 Feb 05

Enamel Renal Syndrome (ERS) is a rare disorder characterized by a combination of dental and renal abnormalities, including stones and hypophosphatemia. ERS is genetically heterogeneous. We report on four pediatric cases of homozygous LoF FAM20A mutations (2 families). Biological (including oral calcium load) and imaging (dental and renal) data were reviewed. Results are presented as median(range). All patients were referred for renal screening by the specialized dental team at a median age of 14.5 [11–19] years. None of them presented symptoms of microscopic/macroscopic hematuria, nor renal colic despite the presence of multiple bilateral nephrolithiasis in all and nephrocalcinosis in one family. Biological parameters were vastly similar, with preserved renal function (eGFR 109(93–111) mL/min/1.73 m²), hypophosphatemia (median − 1.9(-3.4;-1.7) SDS for age), elevated FGF-23 (98(84–117) RU/mL, normal range 21–91 RU/mL) with hypocalciuria and low TmP/GFR. Oral calcium load tests confirmed the absence of resorptive and absorptive hypercalciuria, with adequate PTH inhibition during the test; of note, “baseline” PTH levels tended to be at the upper normal limit (83(65–131) ng/L, local upper normal limit 65ng/L) that was not adequate in view of hypophosphatemia, with 25D levels at 44(19–92) nmol/L. All patients were subsequently followed in pediatric nephrology and received hyperhydration and prudent vitamin D supplementation. These cases highlight the need for interdisciplinary collaboration between pediatric nephrologists, dental specialists and geneticists, to ensure that patients receive timely renal evaluation. The identification of elevated FGF-23 levels in FAM20A-related ERS with severe nephrolithiasis and hypophosphatemia raises the question of the interest of burosumab as targeted therapy. The online version contains supplementary material available at 10.1186/s13023-026-04232-6.

#2

Addressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.

Orphanet journal of rare diseases2026 Jan 29

Pain is a common symptom in many rare bone disorders, often linked to depression and a substantial decline in quality of life. However, there is little information on the quality of the pain which may provide insights into pain mechanisms. This study aimed to describe and compare the frequency and characteristics of self-reported pain in adults with Fibrous Dysplasia of Bone/McCune-Albright Syndrome (FD/MAS), Osteogenesis Imperfecta (OI), and X-linked Hypophosphatemia (XLH). A cross-sectional study was conducted using the online UK RUDY registry. Adults with self -reported FD/MAS, OI, and XLH who completed the painDETECT questionnaire (PD-Q) were included. Pain prevalence and phenotypes were assessed using baseline PD-Q responses which were also mapped to a modified widespread pain index as a measure of generalized pain. Descriptive analyses were performed using R®. A total of 281 adults completed the baseline PD-Q (94 FD/MAS, 94 OI, and 93 XLH). Among these, 86% of patients currently experienced pain and 47% reported severe strongest pain in the past four weeks, with no significant differences between conditions. Pain prevalence and phenotype were similar across diseases, though pain sites differed. Neuropathic-like pain and female sex were significantly associated with poorer pain outcomes, including higher pain prevalence and intensity (p < 0.05). Generalized pain (18%) was significantly associated with moderate to severe anxiety (p = 0.03), depression (p < 0.001) and sleep impairment (p < 0.001). Despite distinct pathophysiological mechanisms, pain distribution appears similar across these bone diseases, suggesting a major role for non-skeletal factors. Generalized pain was frequent and associated with anxiety, depression, and sleep disturbances, suggesting nociplastic features maybe a significant driver of pain in adults with rare bone diseases. The online version contains supplementary material available at 10.1186/s13023-025-04167-4.

#3

Beyond expensive innovations: affordable and effective strategies for managing tubulopathies in adults.

Clinical kidney journal2026 Mar

Tubulopathies comprise a heterogeneous and still poorly defined group of inherited and acquired disorders in which tubular transport is disproportionately impaired, resulting in chronic electrolyte and acid-base disturbances with downstream complications such as nephrocalcinosis, nephrolithiasis, bone fragility and, in some entities, progressive chronic kidney disease. Over the past decade, high-cost targeted therapies have transformed outcomes for a subset of tubulopathy-related disorders with secondary tubular involvement (e.g. anti-fibroblast growth factor 23 therapy in X-linked hypophosphatemia), yet comparable innovations remain largely unavailable for primary tubular transport defects and access to these therapies is uneven across healthcare systems. In this narrative review, we synthesize current evidence and expert recommendations for pragmatic, phenotype-driven interventions that support daily care and may help prevent complications. Core management still relies on non-targeted measures, including individualized nutritional counselling, optimization of hydration and solute load, and tailored electrolyte and alkali supplementation. We also discuss the rational use of widely available drugs that can be repurposed in selected tubular phenotypes, such as thiazide and thiazide-like diuretics, potassium-sparing agents, azole antifungals in calcitriol-driven hypercalcaemic states and emerging data on sodium-glucose cotransporter 2 inhibitors. Finally, we emphasize supportive care components often overlooked in 'drug-centred' approaches, including structured patient education, adherence support and monitoring of extra-renal manifestations. Overall, this review argues for a more resource-conscious approach to tubulopathies: one that recognizes the lack of a consensual definition, prioritizes phenotype-based care bundles, and underscores the urgent need for larger prospective studies incorporating patient-reported outcomes and robust economic endpoints, particularly the out-of-pocket burden borne by patients and families.

#4

Impact of oral phosphate supplements and active vitamin D treatment on dentoalveolar features of X-linked hypophosphatemia.

JBMR plus2026 Apr

X-linked hypophosphatemia (XLH), the most common form of genetic rickets (1/20000 births), results in the disruption of skeletal and dental mineralization. Oral features include dentinomalacia, spontaneous dental abscesses, and a high susceptibility to periodontitis. The association of phosphate supplementation and active vitamin D analogs (PO4/VitD) aims to counteract the consequences of FGF23 excess and the impaired production of active vitamin D. Despite a significant improvement in the long bone phenotype, the impact on dentoalveolar tissues remains poorly documented. Here, we aimed to determine whether the PO4/VitD treatment improves dental features in the Hyp mouse model of XLH and in XLH patients. Hyp mice were treated with oral phosphate supplementation and calcitriol injections from 3 wk to 3 mo and were compared with untreated Hyp and WT mice. Histological analyses were also performed on teeth from patients with XLH treated with PO4/VitD and on control teeth. Micro-CT analyses showed that the PO4/VitD treatment did not significantly correct dentin/cementum volume and density, pulp chamber enlargement, and alveolar bone parameters in Hyp mice. Histological analyses also revealed that dentinomalacia and periodontal attachment were not rescued by the treatment. Remarkably, permanent teeth from XLH patients treated with PO4/VitD during childhood displayed a significant reduction in predentin thickness and a thinner layer of globular dentin. Taken together, our data show that the PO4/VitD treatment does not significantly improve dentoalveolar features in Hyp mice treated at the prepubertal stage. However, the impact observed on dentin in human teeth supports the interest of this treatment regarding the occurrence of spontaneous dental abscesses.

#5

Postprandial serum phosphorus and calcium concentrations in adults and children with X-linked hypophosphatemia during burosumab treatment.

JBMR plus2026 Apr

X-linked hypophosphatemia (XLH) is caused by PHEX gene variants that result in increased circulating levels of fibroblast growth factor 23 (FGF23). FGF23 in turn decreases renal reabsorption of phosphate and suppresses renal production of 1,25(OH)2D, leading to rickets and growth impairment in children and osteomalacia in children and adults. Burosumab is a fully human FGF23-blocking monoclonal antibody approved for treating XLH. Limited data are available on the impact of phosphorus-containing meals or supplements or diurnal variation on serum phosphorus levels, with increases observed in some, but not all studies. It is recommended that serum phosphorus be measured in the morning fasted state when monitoring treatment in patients with XLH. The present substudy of the pivotal pediatric and adult phase 3 clinical trials of burosumab examined the impact of meal consumption and timing around meals on serum phosphorus and calcium levels in children and adults with XLH during burosumab treatment. Thirty-nine participants (pediatric, n = 13; adult, n = 26) were included. The mean (SD) duration of burosumab treatment prior to the substudy was 15.4 (6.6) mo for pediatric and 24.2 (3.7) mo for adult participants. Serum phosphorus and calcium levels were measured before and after breakfast in children, and before and after both breakfast and lunch in adults. In both age groups, there was no clinically meaningful difference in mean levels of serum phosphorus measured at 1 and 2 h after meals compared to fasted levels, and serum calcium levels remained within the normal range for all pediatric participants and most adults, although interpatient variation was observed. These results suggest that, when fasting is not possible, nonfasting serum phosphorus levels may be a suitable alternative in patients with XLH receiving a stable dose of burosumab.

Publicações recentes

Age-Specific Centiles for Fibroblast Growth Factor 23 and Its Associations with Mineral and Bone Metabolism in Healthy Children.

📖 Revisão

J Steroid Biochem Mol Biol2026 Apr 14

Association of PHEX Gene Dosage With Meniere Disease and Related Audiovestibular Phenotypes in X-Linked Hypophosphatemia.

JAMA Otolaryngol Head Neck Surg2026 Apr 16

Anthropometric characteristics at birth and growth outcome in patients with X-linked hypophosphatemia treated with oral phosphate and active vitamin D.

Pediatr Nephrol2026 Apr 10

Real-world Effectiveness of Burosumab Across Age Groups: X-linked Hypophosphatemia (XLH) Disease Monitoring Program.

J Clin Endocrinol Metab2026 Apr 4

Clinical features of Italian adult individuals with X-linked hypophosphatemia: a multicenter retrospective study.

Endocr Connect2026 Apr 1

Ver todas no PubMed

📚 EuropePMC445 artigos no totalmostrando 195

Beyond expensive innovations: affordable and effective strategies for managing tubulopathies in adults.

Clinical kidney journal

Impact of oral phosphate supplements and active vitamin D treatment on dentoalveolar features of X-linked hypophosphatemia.

Postprandial serum phosphorus and calcium concentrations in adults and children with X-linked hypophosphatemia during burosumab treatment.

Journal of bone and mineral metabolism

Autoimmune osteomalacia: a novel FGF23-related hypophosphatemic osteomalacia.

Management of X-Linked Hypophosphatemia During Pregnancy: Case Report and Literature Review.

Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.

Bone Age Delay in X-linked Hypophosphatemia.

Addressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.

Burosumab in Chinese adults with X-linked hypophosphatemia: a phase 4 study.

Biochemical evaluation of X-linked hypophosphatemia and tumor-induced osteomalacia: insights into diagnosis and management.

AACE endocrinology and diabetes

Reclassification of Hypophosphatemic Bone Disease as X-Linked Hypophosphatemia Following Genetic Testing in Adulthood.

Harmonized Tubular Maximum Phosphate reabsorption per Glomerular Filtration Rate reporting in adults and children in Australia and New Zealand.

A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic PHEX variants.

Hearing impairment in X-linked hypophosphatemia: a review.

Patient and carer perceptions and acceptability of current management practices in paediatric X-linked hypophosphatemia treated with burosumab therapy.

What is it like living with X-linked hypophosphatemia?: results from an Australian consumer survey.

Burosumab in adults with X-linked hypophosphatemia: real-world experience from a retrospective study in Sydney.

Secondary and Tertiary Hyperparathyroidism among Patients with X-Linked Hypophosphatemia: A Systematic Review and Meta-analysis.

European journal of paediatric dentistry

X-linked hypophosphatemia in childhood: dental involvement, diagnosis, and treatment.

Genetic reduction or deletion of osteopontin in osteomalacic Hyp mice fails to ameliorate dentoalveolar defects.

Journal of children's orthopaedics

Two-year structural skeletal outcomes of burosumab therapy in pediatric X-linked hypophosphatemia: A radiographic cohort study.

A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000-2022).

Journal of clinical medicine

X-Linked Hypophosphatemia in a Family Cohort: Clinical Variability, Genetic Confirmation and Modern Therapeutic Perspectives.

Proof-of-principle for enhanced dentoalveolar mineralization using exogenous tissue-nonspecific alkaline phosphatase in the Hyp mouse model of X-linked hypophosphatemia.

Case Report: Increased FGF23 and new insufficiency fractures at burosumab discontinuation in X-linked hypophosphatemia.

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

Indications for the evaluation and supplementation of hypophosphatemia: an umbrella systematic review of reviews and guidelines.

BMC medicine

The Journal of clinical endocrinology and metabolism

Treatment of Children and Adults With X-Linked Hypophosphatemia With Calcitriol Alone: A Prospective, Open-Label Study.

Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry

Proceedings of the 2025 Santa Fe Bone Symposium: Current concepts in the care of patients with osteoporosis, parathyroid disorders, and rare bone diseases.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Bridging the knowledge gap in rare bone disorders: insights from the APCO Asia-Pacific Rare Bone Disorders Engagement (ASPIRE) survey.

Journal of periodontal research

Targeted Alkaline Phosphatase Therapy Enhances Alveolar Bone Healing in X-Linked Hypophosphatemia in Mice.

X-linked hypophosphatemia and tumor-induced osteomalacia: a narrative review and expert opinion on the diagnostic and therapeutic challenges in the era of burosumab.

Surgical and Nonsurgical Endodontic Treatment of a Patient with Vitamin D-resistant Rickets and Extraoral Sinus Tract: A Case Report.

Journal of endodontics

Distribution of blood pressure and its positive association with body mass index standard deviation score in pediatric patients with X-linked hypophosphatemia: a sub-group analysis from the SUNFLOWER observational study.

Endocrine journal

A deep intronic PHEX variant in a large Danish family with hereditary hypophosphatemia and a milder skeletal, but more severe dental phenotype.

Health-related quality of life in French pediatric patients with X-linked hypophosphatemia: real-world data from the International XLH Registry.

Burosumab prevents further height deficit in toddlers affected by XLH.

Endocrine connections

Increased lifelong burden of comorbidities without increased early mortality in hereditary hypophosphatemia: a Danish register study.

Approach to a Child with Hypophosphatemia.

Biomolecules

Improvement in Physical Function Associated With Burosumab in a Patient With X-linked Hypophosphatemia: A Case Report.

Cureus

Advancing Patient Evidence in XLH (APEX): Baseline analysis of a global data unification program.

Refractory Hypophosphatemia Secondary to Tumor-Induced Osteomalacia: Diagnostic Challenges and Successful Management With Burosumab.

Cureus

X-Linked Hypophosphatemia: Role of Fibroblast Growth Factor 23 on Human Skeletal Muscle-Derived Cells.

The Journal of clinical endocrinology and metabolism

Challenges in Estimating Renal Function in X-linked Hypophosphatemia Because of Formula Overestimation and FGF23 Effects.

Lower limb deformity correction in X-linked hypophosphatemia (XLH) with intramedullary nails: A strategy to reduce deformity recurrence and improve limb function.

Burosumab treatment for fibroblast growth factor-23-associated hypophosphatemia in an adult patient with severe fibrous dysplasia in McCune-Albright syndrome: case report and review of the literature.

A case report of X-linked hypophosphatemia combined with primary hyperparathyroidism.

Prevalence of enthesopathies in X-linked hypophosphatemia: an explorative ultrasound study.

The genetic polymorphism of XPR1 associated with Fanconi syndrome in Chinese patients with X-linked hypophosphatemia.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Burosumab: what can it do in children and adult patients with X-linked hypophosphatemia?

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

3D-DXA reveals significant effects of burosumab on trabecular and cortical skeletal envelopes in symptomatic adults with X-linked hypophosphatemia.

Cytogenetic and genome research

Clustered Structural Variants Involving <italic>PHEX</italic> at Xp22 in a Female Patient with X-Linked Hypophosphatemia.

Experts' consensus on the management and treatment of individuals with X-linked hypophosphatemia across lifespan.

Pain and physical function affecting quality of life in patients with osteogenesis imperfecta, X-linked hypophosphatemia, and hypermobile Ehlers-Danlos syndrome.

European journal of obstetrics, gynecology, and reproductive biology

First case of preimplantation genetic testing of X-linked dominantly inherited hypophosphatemia family lines using next-generation sequencing technology.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology

Extracellular Matrix Proximity Biotinylation Identifies Periostin as a PHEX Proteolytic Substrate.

A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy.

The Journal of clinical endocrinology and metabolism

PHEX Protein in the Parathyroid Gland Contributes to Phosphate Sensing.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Switching from active vitamin D and phosphate supplementation to burosumab significantly corrects lower limb malalignment in pediatric X-linked hypophosphatemia.

Pediatric nephrology (Berlin, Germany)

Growth dynamics of transversal body dimensions and proportions, with related clinical determinants in children with X-linked hypophosphatemia treated with phosphate supplements and active vitamin D.

Double burdened yet resilient: quality of life of caregivers of people with X-linked hypophosphatemia.

Wiener klinische Wochenschrift

Inadequate pediatric reference ranges impede the diagnosis of X-linked hypophosphatemia and hypophosphatasia in Austria.

Real-world characteristics & disease history of patients with X-linked hypophosphatemia before treatment with burosumab.

Archives of osteoporosis

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Oncogenic rickets diagnosed at age 8 and the risk of persistent rickets: a rare case of pediatric-onset tumor-induced osteomalacia.

Short stature in pre-pubertal children with X-linked hypophosphatemia.

Endocrine connections

Predictors of response to burosumab in adults with X-linked hypophosphatemia: real-world data from an Italian cohort.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Real-world effectiveness of burosumab vs oral phosphate and active vitamin D in adults with X-linked hypophosphatemia.

Quality of life of 26 family members from four generations with X-linked hypophosphatemia: a cross-sectional study.

The Diagnosis and Therapy of XLH.

Journal of health economics and outcomes research

The Burden of Adult X-Linked Hypophosphatemia on Carers and Family Members: A Mixed-Methods Study.

Advancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program.

Calcium isotope ratio in patients with monogenic bone diseases: a prospective, cross-sectional, single-center pilot study.

The Journal of clinical endocrinology and metabolism

X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.

Craniosynostosis among children with X-linked hypophosphatemia: A systematic review and meta-analysis.

Archives of endocrinology and metabolism

Characterization of adult patients with X-linked hypophosphatemia at a specialized center in Buenos Aires, Argentina.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Significance of assessing the severity of craniosynostosis in patients with X-linked hypophosphatemia (XLH) at diagnosis.

Office Blood Pressure and Obesity in Children with X-Linked Hypophosphatemia.

Journal of bone and mineral metabolism

Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults.

The Journal of clinical endocrinology and metabolism

Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience.

Factors associated with impaired physical functionality in X-linked hypophosphatemia.

Qualitative analysis of pain impact in adult patients with X-linked hypophosphatemia.

Zeitschrift fur Rheumatologie

[Rare osteological diseases in the rheumatological consultation: hypophosphatasia and phosphate loss syndromes].

The Journal of clinical endocrinology and metabolism

Pain, Quality of Life, and Mental Health in Adults with X-linked Hypophosphatemia: A Cross-sectional Study.

The Journal of clinical endocrinology and metabolism

X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline.

Journal of dental research

Dental Management of Genetic Dental Disorders: A Critical Review.

AACE clinical case reports

Combined Treatment With Leuprolide Acetate and Burosumab in X-linked Hypophosphatemia and Precocious Puberty: A Therapeutic Response.

Understanding the structural biology of osteomalacia through multiscale 3D X-ray and electron tomographic imaging: a review of X-linked hypophosphatemia, the Hyp mouse model, and imaging methods.

A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family.

18F-Sodium Fluoride PET/CT as a Tool to Assess Enthesopathies in X-Linked Hypophosphatemia.

Comprehensive Metabolomic Profiling in Adults with X-Linked Hypophosphatemia: A Case-Control Study.

Biomedicines

Case report: Prolonged and severe hungry bone syndrome after parathyroidectomy in X-linked hypophosphatemia.

Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry

Proceedings of the 2024 Santa Fe Bone Symposium: Update on the Management of Osteoporosis and Rare Bone Diseases.

The Journal of clinical endocrinology and metabolism

Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients With X-Linked Hypophosphatemia.

Special Collection on Rare Musculoskeletal Diseases 2024.

The Journal of clinical endocrinology and metabolism

Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia.

Intragenic duplication of PHEX in a girl with X-linked hypophosphatemia: a case report with review of literature.

Endocrine journal

The Journal of clinical endocrinology and metabolism

Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia.

Impact of stopping burosumab treatment at the end of skeletal growth in adolescents with X-linked hypophosphatemia (XLH).

Phosphorus-independent role of FGF23 in erythropoiesis and iron homeostasis.

PloS one

Use of Whole-Exome Sequencing and Pedigree Analysis to Identify X-linked Hypophosphatemia in Saudi Arabian Families.

Improvements with burosumab treatment in an early access programme for adults with X-linked hypophosphataemia: A case series of three patients.

Journal of clinical medicine

Midfoot and Forefoot Disorders in Adolescents and Adults with X-Linked Hypophosphatemia.

Real-World Clinical and Healthcare Resource Burden Among Burosumab-Naïve Patients With Familial Hypophosphatemia.

The Journal of clinical endocrinology and metabolism

Bone Microarchitecture Evaluated by HR-PQCT in Chinese Adolescent and Pediatric Patients With X-Linked Hypophosphatemia.

Tertiary hyperparathyroidism in two paediatric patients with X-linked hypophosphatemia during Burosumab treatment.

The Journal of clinical endocrinology and metabolism

RNA-first Approach Identifies Deep Intronic PHEX Variants in X-linked Hypophosphatemic Rickets.

Effect of Mutation Type on Ectopic Ossification Among Adult Patients With X-Linked Hypophosphatemia.

Association between work productivity and characteristics of adults with X-linked hypophosphatemia: an analysis of the XLH disease monitoring program.

Clinical pharmacology and therapeutics

Model-Informed Approach to Recommend Burosumab Dosing Regimens for Pediatric and Adult Patients With the Ultrarare Disease Tumor-Induced Osteomalacia.

Areas of uncertainty on the diagnosis, treatment, and follow-up of hypophosphatemia in adults: an Italian Delphi consensus.

Lower limb maltorsion and acetabular deformity in children and adolescents with X-linked hypophosphatemia.

Journal of clinical pharmacology

Pharmacodynamic Exposure-Response Analysis of Fracture Count Data Following Treatment with Burosumab in Patients with XLH.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2).

FGF23 and Cell Stress in SaOS-2 Cells-A Model Reflecting X-Linked Hypophosphatemia Dynamics.

Cells

European journal of paediatric dentistry

Rare diseases: a challenge in paediatric dentistry.

Meta-analysis and systematic review: burosumab as a promising treatment for children with X-linked hypophosphatemia.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Nephrocalcinosis and kidney function in children and adults with X-linked hypophosphatemia: baseline results from a large longitudinal study.

Clinical pharmacology and therapeutics

Item Response Theory Quantifies the Relationship Between Improvements in Serum Phosphate and Patient-Reported Outcomes in Adults With X-Linked Hypophosphatemia.

Journal of the American Dental Association (1939)

Inherited phosphate and pyrophosphate disorders: New insights and novel therapies changing the oral health landscape.

European journal of endocrinology

Metabolically healthy obesity in adults with X-linked hypophosphatemia.

X-linked hypophosphatemia: long-term outcomes of different treatment strategies.

Nefrologia

Evaluation of dental manifestations in X-linked hypophosphatemia using orthopantomography.

PloS one

Pretreatments to bonding on enamel and dentin disorders: a systematic review.

Evidence-based dentistry

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Longitudinal assessment of physical function in adults with X-linked hypophosphatemia following initiation of burosumab therapy.

Journal of family medicine and primary care

Hypophosphatemic osteomalacia due to cadmium toxicity in silverware industry: A curious case of aches and pains.

NFATc1 Is Required for Vitamin D- and Phosphate-Mediated Regulation of Osteocyte Lacuno-Canalicular Remodeling.

Endocrinology

Burosumab treatment of X-linked hypophosphatemia patients: interim analysis of the SUNFLOWER longitudinal, observational cohort study.

Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets.

Burosumab Efficacy and Safety in Patients with X-Linked Hypophosphatemia: Systematic Review and Meta-analysis of Real-World Data.

Journal of orthopaedic translation

Sclerostin inhibition in rare bone diseases: Molecular understanding and therapeutic perspectives.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Hypophosphatemic rickets and short stature.

Evaluation of bone density and microarchitecture in adult patients with X-linked hypophosphatemic rickets: A pilot longitudinal study.

Zhonghua er ke za zhi = Chinese journal of pediatrics

[Effect and safety of Burosumab in the treatment of 4 children with X-linked hypophosphatemia].

Nutritional Behavior of Patients with Bone Diseases: A Cross-Sectional Study from Austria.

Nutrients

A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene.

Genes

Pediatric nephrology (Berlin, Germany)

Health-related quality of life of children with X-linked hypophosphatemia in Germany.

The Journal of clinical endocrinology and metabolism

Improved Oral Health in Adults With X-Linked Hypophosphatemia Treated With Burosumab.

Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay.

Frontiers in genetics

X-Linked hypophosphatemia. Data from a Spanish adult population cohort.

Journal of nephrology

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

The role of GDF5 in regulating enthesopathy development in the Hyp mouse model of XLH.

Inflammatory myofibroblastic tumor in a patient with X-Linked hypophosphatemia: A case of Occam's razor or Hickam's dictum?

Urology case reports

Characteristics of oral health of patients with X-linked hypophosphatemia: case reports and literature review.

BDJ open

Cardiovascular health in pediatric patients with X-linked hypophosphatemia under two years of burosumab therapy.

Archives of endocrinology and metabolism

Efficacy and safety of burosumab compared with conventional therapy in patients with X-linked hypophosphatemia: A systematic review.

Therapeutic advances in chronic disease

Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysis.

The Journal of clinical endocrinology and metabolism

Identification of Rare and Novel PHEX Variants in X-linked Hypophosphatemia.

Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period.

Children (Basel, Switzerland)

Non-Surgical Strategies for Managing Skeletal Deformities in a Child with X-Linked Hereditary Hypophosphatemic Ricket: Insights and Perspectives.

Orthodontics & craniofacial research

Orthodontic treatment in children and adolescent patients with X-linked hypophosphatemia: A case-control study.

Epidemiological analysis to identify predictors of X-linked hypophosphatemia (XLH) diagnosis in an Italian pediatric population: the EPIX project.

Endocrine

Molecular and cellular biochemistry

Emerging concepts on the FGF23 regulation and activity.

Use of Complementary and Alternative Medicine in Patients with Rare Bone Diseases and Osteoporosis.

Nutrients

International journal of molecular sciences

Metabolomics of Plasma in XLH Patients with Arterial Hypertension: New Insights into the Underlying Mechanisms.

The Journal of clinical endocrinology and metabolism

Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.

Journal of the Pediatric Orthopaedic Society of North America

Impact of burosumab on lower limb alignment in children with X-linked hypophosphatemia.

Oral health and oral-health-related quality of life in people with X-linked hypophosphatemia.

BMC oral health

Molecular genetics & genomic medicine

Real-world data of Brazilian adults with X-linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts.

The Journal of clinical endocrinology and metabolism

The Diagnostic Odyssey in Children and Adolescents With X-linked Hypophosphatemia: Population-Based, Case-Control Study.

Complex intrinsic abnormalities in osteoblast lineage cells of X-linked hypophosphatemia: Analysis of human iPS cell models generated by CRISPR/Cas9-mediated gene ablation.

Health-related quality of life and fatigue in adult rare bone disease patients: A cross-sectional study from Austria.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Switching to burosumab from conventional therapy in siblings with relatively well-controlled X-linked hypophosphatemia.

European journal of medical genetics

X-linked hypophosphatemia: The value of feedback focus groups to assess patient and caregiver needs.

Clinical chemistry and laboratory medicine

Tubular phosphate transport: a comparison between different methods of urine sample collection in FGF23-dependent hypophosphatemic syndromes.

Case reports in rheumatology

Rare Causes of Musculoskeletal Pain: Thinking beyond Common Rheumatologic Diseases.

Experimental biology and medicine (Maywood, N.J.)

X-linked hypophosphatemia, fibroblast growth factor 23 signaling, and craniosynostosis.

Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome.

Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients.

X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia.

Successful Burosumab Treatment in an Adult Patient with X-Linked Hypophosphatemia and Chronic Kidney Disease Stage 3b.

Hormones (Athens, Greece)

Τhe story of sclerostin inhibition: the past, the present, and the future.

Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.

In vivo (Athens, Greece)

Journal of clinical medicine

X-Linked Hypophosphatemia: Does Targeted Therapy Modify Dental Impairment?

Latin-American consensus on the transition into adult life of patients with X-linked hypophosphatemia.

Endocrine

A Novel Case of Concomitant PHEX and ALPL Mutation In a Family With Rickets.

JCEM case reports

Impaired Growth Plate Maturation in XLH Is due to Both Excess FGF23 and Decreased 1,25-Dihydroxyvitamin D Signaling.

Endocrinology

International journal of oral science

Dental impact of anti-fibroblast growth factor 23 therapy in X-linked hypophosphatemia.

A PAI-1 antagonist ameliorates hypophosphatemia in the Hyp vitamin D-resistant rickets model mouse.

FEBS open bio

Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry

Proceedings of the 2023 Santa Fe Bone Symposium: Progress and Controversies in the Management of Patients with Skeletal Diseases.

FGF23 directly inhibits osteoprogenitor differentiation in Dmp1-knockout mice.

JCI insight

Endocrinology, diabetes & metabolism case reports

Tumour-induced osteomalacia: 18 months of 2-weekly burosumab treatment.

The Journal of clinical endocrinology and metabolism

Effect of Burosumab on Muscle Function and Strength, and Rates of ATP Synthesis in Skeletal Muscle in Adults With XLH.

Current pediatric reviews

Diagnostic and New Therapeutic Approaches to Two Challenging Pediatric Metabolic Bone Disorders: Hypophosphatasia and X-linked Hypophosphatemic Rickets.

A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia.

JCEM case reports

Orthopaedics & traumatology, surgery & research : OTSR

MRI quantitative muscle characterization in children with X-linked hypophosphatemia.

Circulating Levels of Leptin and Lipocalin-2 in Patients With X-Linked Hypophosphatemia.

The Journal of clinical endocrinology and metabolism

Reassuring Data on the Cardiovascular Risk in Adults With X-linked Hypophosphatemia Receiving Conventional Therapy.

The sacroiliac joint: An original and highly sensitive tool to highlight altered bone phenotype in murine models of skeletal disorders.

European journal of endocrinology

Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study.

International journal of oral science

Sclerostin antibody improves alveolar bone quality in the Hyp mouse model of X-linked hypophosphatemia (XLH).

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme

X-Linked Familial Hypophosphatemia: A Case Report of 27-Year Old Male and Review of Literature.

Biomechanical Impact of Phosphate Wasting on Articular Cartilage Using the Murine Hyp Model of X-linked hypophosphatemia.

A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype.

Frontiers in pediatrics

The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.

European journal of pediatrics

Linear growth of children with X-linked hypophosphatemia treated with burosumab: a real-life observational study.

Contributions of increased osteopontin and hypophosphatemia to dentoalveolar defects in osteomalacic Hyp mice.