Research & Literature

Hypocalcaemia in patients with metastatic bone disease treated with denosumab.

Body JJ, Bone HG, de Boer RH, et al.

European journal of cancer (Oxford, England : 1990) 2015; (51(13)):1812-21.

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.

Gottesman GS, Madson KL, McAlister WH, et al.

American journal of medical genetics. Part A 2016; (170A(4)):978-85 doi:10.1002/ajmg.a.37536.

Loss of Functional Osteoprotegerin: More Than a Skeletal Problem.

Grasemann C, Unger N, Hövel M, et al.

The Journal of clinical endocrinology and metabolism 2017; (102(1)):210-219 doi:10.1210/jc.2016-2905.

High bone turnover elevates the risk of denosumab-induced hypocalcemia in women with postmenopausal osteoporosis.

Ishikawa K, Nagai T, Sakamoto K, et al.

Therapeutics and clinical risk management 2016; (12()):1831-1840 doi:10.2147/TCRM.S123172.

Juvenile Paget disease.

Polyzos SA, Cundy T, Mantzoros CS

Metabolism: clinical and experimental 2018; (80()):15-26 doi:10.1016/j.metabol.2017.10.007.

Osteonecrosis of the Jaw and Rebound Hypercalcemia in Young People Treated With Denosumab for Giant Cell Tumor of Bone.

Uday S, Gaston CL, Rogers L, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(2)):596-603 doi:10.1210/jc.2017-02025.

Acquired resistance to pamidronate treated effectively with zoledronate in juvenile Paget's disease.

Gonc EN, Ozon A, Buyukyilmaz G, et al.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2018; (29(6)):1471-1474 doi:10.1007/s00198-018-4443-7.

ANGIOID STREAKS: A Comprehensive Review From Pathophysiology to Treatment.

Chatziralli I, Saitakis G, Dimitriou E, et al.

Retina (Philadelphia, Pa.) 2019; (39(1)):1-11 doi:10.1097/IAE.0000000000002327.

Hypocalcemic disorders.

Bove-Fenderson E, Mannstadt M

Best practice & research. Clinical endocrinology & metabolism 2018; (32(5)):639-656 doi:10.1016/j.beem.2018.05.006.

Juvenile Paget's disease with compound heterozygous mutations in TNFRSF11B presenting with recurrent clavicular fractures and a mild skeletal phenotype.

Naot D, Wilson LC, Allgrove J, et al.

Bone 2020; (130()):115098 doi:10.1016/j.bone.2019.115098.

Use of Denosumab in Children With Osteoclast Bone Dysplasias: Report of Three Cases.

Upfill-Brown A, Bukata S, Bernthal NM, et al.

JBMR plus 2019; (3(10)):e10210 doi:10.1002/jbm4.10210.

Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7).

Whyte MP, Campeau PM, McAlister WH, et al.

Bone 2020; (137()):115364 doi:10.1016/j.bone.2020.115364.

Zoledronate.

Reid IR, Green JR, Lyles KW, et al.

Bone 2020; (137()):115390 doi:10.1016/j.bone.2020.115390.

Genetic disorders associated with the RANKL/OPG/RANK pathway.

Xue JY, Ikegawa S, Guo L

Journal of bone and mineral metabolism 2021; (39(1)):45-53 doi:10.1007/s00774-020-01148-4.

Severe and prolonged hypocalcemia after a single dose of denosumab for metastatic breast cancer with diffuse bone involvement without prior calcium/vitamin D supplementations.

Uhm SJ, Hall JA, Herrington JD

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners 2021; (27(5)):1287-1290 doi:10.1177/1078155220964550.

Successful denosumab treatment for central giant cell granuloma in a 9-year-old child.

Mariz BALA, Migliorati CA, Alves FA, et al.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2021; (41(4)):519-525 doi:10.1111/scd.12588.

Denosumab for craniofacial fibrous dysplasia: duration of efficacy and post-treatment effects.

Raborn LN, Burke AB, Ebb DH, et al.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2021; (32(9)):1889-1893 doi:10.1007/s00198-021-05895-6.

Clinical course in two children with Juvenile Paget's disease during long-term treatment with intravenous bisphosphonates.

Höppner J, Steff K, Misof BM, et al.

Bone reports 2021; (14()):100762 doi:10.1016/j.bonr.2021.100762.

Juvenile Paget's Disease: Report of a successful treatment throughout the complete growth of a patient with a missense TNFRSF11B mutation.

Prata AR, Saraiva J, Salgado M, Estanqueiro P

Joint bone spine 2021; (88(6)):105243 doi:10.1016/j.jbspin.2021.105243.

Transient hyperphosphatasemia: Possible association with pediatric acute respiratory infection.

Sakurai Y, Higashiguchi T

Pediatric investigation 2021; (5(2)):94-98 doi:10.1002/ped4.12265.

Denosumab-induced hypocalcemia in a patient with hyperthyroidism: a case report.

Park SY, Kim J, Chung HY

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2022; (33(1)):305-308 doi:10.1007/s00198-021-06059-2.

Rhizomelia and Impaired Linear Growth in a Girl with Juvenile Paget Disease: The Natural History of the Condition.

Höppner J, Steff K, Lobert F, et al.

Hormone research in paediatrics 2021; (94(3-4)):151-158 doi:10.1159/000517164.

Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.

Ludwig K, Ward LM, Khan N, et al.

Bone 2022; (160()):116400 doi:10.1016/j.bone.2022.116400.

"Why them, why me, why us?" The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study.

Hassall S, Smith DM, Rust S, et al.

Orphanet journal of rare diseases 2022; (17(1)):193 doi:10.1186/s13023-022-02335-4.

Prevalence of depression and anxiety, and their relationship to social support among patients and family caregivers of rare bone diseases.

Lai X, Jiang Y, Sun Y, et al.

Orphanet journal of rare diseases 2023; (18(1)):18 doi:10.1186/s13023-022-02611-3.

Denosumab in pediatric bone disorders and the role of RANKL blockade: a narrative review.

Wang D, Tang X, Shi Q, et al.

Translational pediatrics 2023; (12(3)):470-486 doi:10.21037/tp-22-276.

Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit.

Chandran M, Alves I, Carpenter T, et al.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2023; (34(8)):1301-1310 doi:10.1007/s00198-023-06791-x.

Long-term follow-up of severe autosomal recessive SP7-related bone disorder.

Gauthier LW, Fontanges E, Chapurlat R, et al.

Bone 2024; (179()):116953 doi:10.1016/j.bone.2023.116953.

Management of RANKL-mediated Disorders With Denosumab in Children and Adolescents: A Global Expert Guidance Document.

Vanderniet JA, Szymczuk V, Högler W, et al.

The Journal of clinical endocrinology and metabolism 2024; (109(5)):1371-1382 doi:10.1210/clinem/dgad657.

Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases.

Domaradzki J, Walkowiak D

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):78-84 doi:10.1016/j.ejpn.2023.12.003.

Headache and Status Epilepticus Reveal Paget's Disease of the Bone.

Ouhabi D, Tibar H, Benomar A, et al.

Cureus 2024; (16(5)):e60588 doi:10.7759/cureus.60588.

Hypercalcemia in children induced by denosumab: a case report and an analysis of the FDA adverse event reporting system database.

Chen Y, Fang C, Yang Z, et al.

Expert opinion on drug safety 2025; (24(6)):719-730 doi:10.1080/14740338.2024.2379446.

Rebound hypercalcemia after denosumab cessation during follow-up after surgical treatment for parathyroid carcinoma: case report and literature review.

Schmitt L, Theiler-Schwetz V, Sadoghi P, et al.

Archives of endocrinology and metabolism 2024; (68()):e240035 doi:10.20945/2359-4292-2024-0035.

Long-Term Denosumab Treatment in Adults with Juvenile Paget Disease.

Polyzos SA, Anastasilakis K, Cundy T, Kita M

Calcified tissue international 2025; (116(1)):60 doi:10.1007/s00223-025-01370-0.

Rebound hypercalcaemia timing is associated with cumulative weight-based denosumab dose for central giant cell granuloma treatment in children despite a dose weaning regimen.

Chesover AD, Allgrove J, Calder A, et al.

Bone 2025; (197()):117501 doi:10.1016/j.bone.2025.117501.

Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregivers.

Colombo GM, Wiese AD, Mercado AE, et al.

Families, systems & health : the journal of collaborative family healthcare 2025; (43(3)):482-499 doi:10.1037/fsh0001004.

Juvenile Paget disease with unique compound heterozygous sequence variants in the TNFRSF11B gene.

Horackova J, Taslerova R, Bayer M, et al.

Orphanet journal of rare diseases 2025; (20(1)):409 doi:10.1186/s13023-025-03804-2.

Spinal manifestations of Paget's disease: Case presentation and systematic review.

Eissa AT, Pedro KM, Gao AF, Fehlings MG

Brain & spine 2025; (5()):105889 doi:10.1016/j.bas.2025.105889.

Paget's disease of bone in a North African population: clinical, imaging, and therapeutic insights from a Moroccan case series.

Ridah W, Nassar K, Ajerouassi A, et al.

Clinical rheumatology 2026; (45(3)):1899-1905 doi:10.1007/s10067-026-07935-0.

Severe pediatric hypocalcemia in Vietnam: etiologic profile, clinical outcomes and risk factors in 246 cases.

Nguyen TT, Dang GTK, Bui PT, et al.

Frontiers in endocrinology 2026; (17()):1701713 doi:10.3389/fendo.2026.1701713.

The first neonatal case of Juvenile Paget disease with homozygous deletion in the TNFRSF11B gene.

Yarci E, Turen B, Ozturk Yarci D, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2026; (39(10)):1060-1065 doi:10.1515/jpem-2026-0056.

Early-onset juvenile Paget disease associated with a homozygous intronic TNFRSF11B variant: a 2-year follow-up.

Meral R, Gökoğlu M

Journal of pediatric endocrinology & metabolism : JPEM 2026; doi:10.1515/jpem-2026-0332.

Disease-associated TNFRSF11B variants differentially disrupt osteoprotegerin secretion and function.

Suzuki R, Nishida-Fukuda H, Fukuda S, et al.

Bone 2026; (213()):118046 doi:10.1016/j.bone.2026.118046.

Facebook as a Lifeboat: An Interview Study Exploring the Role of Facebook in Supporting Parents of Children with Rare Diseases.

Victor B, Yilmaz NG, Hoving C, et al.

Journal of health communication 2026; 1-13 doi:10.1080/10810730.2026.2723703.

Alkaline phosphatase in paediatric practice: a practical approach with a proposed diagnostic algorithm.

Parys J, Nowicki JK, Jakubowska-Pietkiewicz E

Journal of pediatric endocrinology & metabolism : JPEM 2026; doi:10.1515/jpem-2026-0400.