Disease: Hyperostosis-hyperphosphatemia syndrome
- A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features
- A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a <em>GALNT3</em> variant
- A case of lipocalcinogranulomatosis
- A mildly painful wrist mass
- A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis
- A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS)
- A novel <em>FGF23</em> mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation
- Added value of newer optical coherence tomography technologies in hyperphosphatemic familial tumoural calcinosis
- An Unusual Cause of Pseudopapillary Oedema: Hyperphosphatemic Hyperostosis Syndrome
- Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies
- Bone Involvement in Hyperphosphatemic Familial Tumoral Calcinosis: A New Phenotypic Presentation
- Clinical aspects of lipocalcinogranulomatosis
- Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations
- Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings
- Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23
- CONSIDERATIONS ON A CASE OF LIPOCALCINOGRANULOMATOSIS
- Defective O-glycosylation of novel FGF23 mutations in a Chinese family with hyperphosphatemic familial tumoral calcinosis
- Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23
- Diagnostic data on lipocalcinogranulomatosis
- Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation
- Dramatic diminution of a large calcification treated with topical sodium thiosulfate
- FGF23 and skeletal metabolism
- FGF23 contains two distinct high-affinity binding sites enabling bivalent interactions with α-Klotho
- FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients
- GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis
- Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization
- Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature
- Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23
- Hyperphosphataemic familial tumoral calcinosis: case report of a rare and challenging disease
- Hyperphosphataemic tumoral calcinosis
- Hyperphosphatemic Familial Tumoral Calcinosis
- Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene
- Hyperphosphatemic familial tumoral calcinosis in a dancer
- Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in <em>GALNT3</em> Gene: Experience from Southern Turkey
- Hyperphosphatemic familial tumoral calcinosis mimicking a cystic hemo-lymphangioma on MRI
- Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature
- Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action
- Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features
- Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms
- Hyperphosphatemic Tumoral Calcinosis
- Hyperphosphatemic Tumoral Calcinosis
- Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia?
- Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management
- Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders
- Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts
- It is not always gout! : A rare diagnosis of troublesome tumors on fingers and toes
- Lipocalcinogranulomatosis of the subcutaneous tissue
- Lipocalcinogranulomatosis of the tendons and the bursa mucosa
- Lipocalcinogranulomatosis, a lipoidosis
- Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature
- Loss of the disease-associated glycosyltransferase Galnt3 alters Muc10 glycosylation and the composition of the oral microbiome
- Mass lesions in right fifth toe in a dialysis patient: which surgery?
- Mineralization/anti-mineralization networks in the skin and vascular connective tissues
- MULTIPLE NEOPLASTIC LIPOCALCINOGRANULOMATOSIS
- Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome
- Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations
- Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report
- ON LIPOCALCINOGRANULOMATOSIS
- Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome
- Primary hyperphosphatemic tumoral calcinosis: a case report
- Progressive symmetric lipocalcinogranulomatosis: clinical case
- PTH and FGF23 Exert Interdependent Effects on Renal Phosphate Handling: Evidence From Patients With Hypoparathyroidism and Hyperphosphatemic Familial Tumoral Calcinosis Treated With Synthetic Human PTH 1-34
- Rare bone diseases and their dental, oral, and craniofacial manifestations
- Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis
- Recurrence of tumoral calcinosis: a case report
- Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC)
- Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing
- The Case | Ectopic calcifications in a child
- The Successful Treatment of Deep Soft-tissue Calcifications with Topical Sodium Thiosulphate and Acetazolamide in a Boy with Hyperphosphatemic Familial Tumoral Calcinosis due to a Novel Mutation in <em>FGF23</em>
- Therapeutic success of sodium thiosulfate in treating cutaneous calciphylaxis in a patient with hyperphosphataemic familial tumoral calcinosis
- Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?
- Use of Teriparatide in Hyperphosphatemic Familial Tumor Calcinosis: Evaluating the Interaction Between FGF23 and PTH on the Phosphaturic Effect
- Vascular Calcification - Pathological Mechanism and Clinical Application - . Regulation of mineral metabolism and mineralization by FGF23