Reference intervals for intact FGF 23 in healthy Korean adults: lower concentrations in young adulthood require age-specific partitioning.

The lived experience of adolescents with X-linked hypophosphataemia treated with burosumab at end of skeletal growth: a mixed-methods analysis.

Composite Phenotype: Recurrent Nephrolithiasis and Chronic Kidney Disease in an Adult with Biallelic SLC34A3 and Monoallelic SLC3A1 Pathogenic Variants: Who is 'The Culprit'?

A Japanese Patient With Craniosynostosis Due to X-Linked Hypophosphatemic Rickets Who Underwent Fronto-Orbital Distraction.

Expanding the Autosomal Recessive Hypophosphatemic Rickets Type I Carrier Phenotype and Adult Treatment with Burosumab.

Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I.

Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion.

X-linked hypophosphatemic rickets: a rare case report.

Refractory Rickets: Evaluation and Management.

Transition of Care in X-Linked Hypophosphatemic Rickets: From Pediatric to Adult Practice- A Narrative Review.

Autoimmune osteomalacia: a novel FGF23-related hypophosphatemic osteomalacia.

Phenotypic Diversity in Autosomal Recessive Hypophosphatemic Rickets Type 2.

Current advances of bone homeostasis imbalance in the cause of hereditary metabolic bone diseases.

Early Dental Manifestations and Multidisciplinary Management of X-Linked Hypophosphatemic Rickets in a Pediatric Patient: A Case Report.

[Metabolic bone diseases : what's new in 2025].

Heritable metabolic bone disorders: a guide to current genetic testing and clinical management for adult endocrinologists.

Burosumab in infants with X-linked hypophosphatemic rickets: a case series.

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

Dental disease burden and management in children and young people with X-linked hypophosphataemia: a scoping review and service evaluation.

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy.

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

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

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

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

Lower Limb Deformity in Different Types of Rickets.

Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity.

Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.

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

The prevalence of ENPP1 deficiency in humans with OPLL and the preclinical efficacy of ENPP1 enzyme therapy in OPLL mice.

FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.

Secondary Deformity After Hemiepiphysiodesis in Hypophosphatemic Rickets: The Role of Metabolic Control.

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

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2): Is phosphate supplementation safe?

Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X-Linked Hypophosphatemic Rickets.

A Rare Cause of Sacral Insufficiency Fracture in Adolescence: Autosomal Dominant Hypophosphatemic Rickets due to Fgf23 de novo P.Arg176trp Variant.

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

Deformity Correction in an Adult With Hypophosphatemic Rickets.

Feline vitamin D-dependent rickets type 2 caused by a missense variant in the vitamin D receptor gene.

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

A case of autosomal dominant hypophosphatemic rickets.

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.

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

Effect of burosumab conversion on calciuria and nephrocalcinosis in children with XLH: A real-world cohort study.

Burosumab prevents further height deficit in toddlers affected by XLH.

Variants of unknown significance are common in brushite stone formers undergoing genetic testing for nephrolithiasis.

A novel phex gene variant causes non-syndromic tooth agenesis.

Concordant X-linked hypophosphatemic rickets in monozygotic twins: diagnostic challenges and a novel genetic insight.

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

Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UK.

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

Clinical and Laboratory Characteristics of Patients with Genetic Rickets: A Single-Center Experience with Long-Term Outcomes.

Periodontal Manifestations of Systemic Diseases.

Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.

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

Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.

Oral Health Status and Parental Awareness in Children with X-Linked Hypophosphatemic Rickets: A Case-Control Study.

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.

Hereditary Hypophosphatemic Rickets with Hypercalciuria - Importance of Further Evaluation If Clinical Suspicion is Strong.

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

3D-printed model combined with the Ilizarov technique in the treatment of genu varum in children with hypophosphatemic rickets.

[Delayed bone healing after osteotomy - what the family history revealed].

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

A Novel PHEX Mutation in X-Linked Hypophosphataemic Rickets With Reduced Expression of NaPi-IIa and NaPi-IIc in the Proximal Tubules: A Case Report.

Autosomal dominant hypophosphatemic rickets: a case report of two sisters with a novel FGF-23 mutation.

Unexpected SLC34A3 rickets in a case of suspected distal myopathy.

Prevalence of low birth weight, short length, and body disproportion at birth in patients with skeletal dysplasias: A retrospective study.

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

Iron infusion in pregnancy and dental dysplasia in children-is there a link?

Pamidronate Treatment of a Patient with Opsismodysplasia and a Novel INPPL1 Variant: Efficacy, Mechanism, and Clinical Outcomes.

Targeted treatment of hypophosphatemia with trametinib in HRAS-related mosaic RASopathy.

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.

[Surgical strategies for osteotomy correction of severe lower limb deformities in hypophosphatemic rickets].

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

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.

PHEX Protein in the Parathyroid Gland Contributes to Phosphate Sensing.

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

Improvements in hearing loss with bone-targeted enzyme replacement therapy are associated with corrected hypomineralization and osteocyte properties of auditory ossicles in Enpp1-deficient mice.

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.

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.

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

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

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.

A Child with Cutaneous-Skeletal Hypophosphatemia Syndrome Caused by a Mosaic HRAS Mutation: Outcome of Treatment with Anti-FGF23 Antibody.

The Diagnosis and Therapy of XLH.

The impact of monoallelic inactivation mutations in the ENPP1 gene on pediatric skeletal development: a case report and literature review.

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

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

Case report: Reversible Fanconi syndrome due to vitamin D deficiency in a patient with epilepsy harbouring a pathogenic variant in the SLC34A1 gene.

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

Vitamin D dependent rickets type 2A: a case series of two siblings with novel mutation in vitamin D receptor gene responded to high dose oral calcium and calcitriol.

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

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

Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2.

Tumor-induced rickets/osteomalacia (TIO): diagnostic pitfalls and therapeutic options.

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

Surgical treatment of the varus knee caused by vitamin D-resistant rickets. Report of two cases and review of the literature.

FGF23-Mediated Hypophosphatemic Rickets: Phenotype, Genotype, and Comparison to Non-FGF23-Mediated Forms.

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

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

Prevalence of Comorbid Hyperparathyroidism and Its Association with Renal Dysfunction in Asian Patients with X-Linked Hypophosphatemic Rickets/Osteomalacia.

Disease burden and health-related quality of life among children with X-linked hypophosphataemia in China: a national cross-sectional survey.

X-linked hypophosphataemia.

X-Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment.

Dental Manifestations in Children Affected by Hypophosphatemic Rickets: A Systematic Review and Meta-Analysis.

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

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

Burosumab Treatment in a Girl With Cutaneous Skeletal Hypophosphatemia Syndrome: 2-Year Follow-Up.

Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation.

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

Hypophosphatemia in pregnancy: A case report.

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

Etiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study.

Hypophosphatemic Rickets as a Key Sign for the Diagnosis of Hereditary Tyrosinemia Type 1: Case Reports and Narrative Review of the Literature.

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

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.

Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype-Genotype Correlation.

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

Respiratory insufficiency as a rare presentation in a child with vitamin D-dependent rickets type 1.

Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.

Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome.

Vitamin D Dependent Rickets 2A With Alopecia: Three Cases With Novel Genetic Variants.

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.

Nephrocalcinosis tendency does not worsen under burosumab treatment for X-linked hypophosphatemic rickets: a multicenter pediatric study.

Unusual PHEX variants implicate uncommon genetic mechanisms for X-linked hypophosphatemic rickets.

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

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

No longer to be ignored: Hypophosphatemia following intravenous iron administration.

Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria.

The care of the patient with X-linked hypophosphatemic rickets.

Metabolic Bone Disease: An Overview.

Genetic, Clinical, and Biochemical Characterization of a Large Cohort of Palestinian Patients With Fanconi-Bickel Syndrome.

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.

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

Burosumab, a Transformational Treatment in a Pediatric Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome.

Impact of X-linked hypophosphatemic rickets/osteomalacia on health and quality of life: baseline data from the SUNFLOWER longitudinal, observational cohort study.

Effective bone healing after corrective osteotomy in a patient with FGF23-related hypophosphatemic disease using short-term burosumab treatment.

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

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

Clinical presentation and burden of ENPP1 deficiency in adults.

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

ENPP1 deficiency: almost ready for prime time!

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

[Clinical value of renal phosphorus threshold in the diagnosis and treatment X-linked hypophosphatemic rickets in children].

Rare diseases: a challenge in paediatric dentistry.

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

Commentary on: The use of burosumab to treat autosomal-recessive hypophosphatemic rickets type 2: rationale and a first clinical experience.

X-linked hypophosphatemic rickets and nephrocalcinosis: clinical characteristics of a single-center pediatric cohort in North America before and after burosumab.

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

Alteration of Bone Microarchitecture in Hereditary Distal RTA Patients With SLC4A1 Gene Mutation: Assessed by HR-pQCT.

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

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

Metabolically healthy obesity in adults with X-linked hypophosphatemia.

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

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

A toddler with severe vitamin D-dependent rickets type 1 A (VDDR1A), hungry bone syndrome, and severe RSV infection: presentation and therapeutic challenges.

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

Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy.

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

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

[Retrospective study on the diagnosis, treatment, and follow-up of 85 cases of hypophosphatemic rickets in children].

Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl.

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

Consenso mexicano de tirosinemia tipo 1.

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

Coexistence of hypogonadotropic hypogonadism and hypophosphatemic rickets.

Hypophosphatemic rickets and short stature.

A de novo <italic>PRPF8</italic> Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure.

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

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

Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets.

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

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

Complex phenotype in Fanconi renotubular syndrome type 1: Hypophosphatemic rickets as the predominant presentation.

Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia.

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

CYP4A22 loss-of-function causes a new type of vitamin D-dependent rickets (VDDR1C).

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

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

Siblings with vitamin D-dependent rickets type 1A: Importance of genetic testing and a review of genotype-phenotype correlations.

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

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

Establishing a human-induced pluripotent stem cell line SMUSHi005-A from a patient with hypophosphatemic vitamin D-resistant rickets carrying the PHEX c.1586-1586+1 delAG mutation.

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

Recent advances in fibroblast growth factor 23-related hypophosphatemic disorders.

Early manifestation of hypophosphatemic rickets in goslings: a potential role of insufficient muscular adenosine triphosphate in motility impairment of early P-deficient geese.

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

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine.

Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series.