S.S. Beck-Nielsen, B. Brock-Jacobsen, J. Gram, K. Brixen, T.K. Jensen, Incidence and prevalence of nutritional and hereditary rickets in southern Denmark. Eur. J. Endocrinol. 160, 491–497 (2009). https://doi.org/10.1530/EJE-08-0818
Article CAS PubMed Google Scholar
T.O. Carpenter, N.J. Shaw, A.A. Portale, L.M. Ward, S.A. Abrams, J.M. Pettifor, Rickets. Nat. Rev. Dis. Primers. 21, 17101 (2007). https://doi.org/10.1038/nrdp.2017.101. PMID: 29265106
C. Gentile, F. Chiarelli, Rickets in children: an update. Biomedicines 9, 738 (2021). https://doi.org/10.3390/biomedicines9070738. PMID: 34199067
Article CAS PubMed PubMed Central Google Scholar
V. Pavone, G. Testa, S. Gioitta Iachino, F.R. Evola, S. Avondo, G. Sessa, Hypophosphatemic rickets: etiology, clinical features and treatment. Eur. J. Orthop. Surg. Traumatol. 25, 221–226 (2015). https://doi.org/10.1007/s00590-014-1496-y. Epub 2014 Jun 24.PMID: 24957364.
Y.N. Lamb, Burosumab: first global approval. Drugs 78, 707–714 (2018). https://doi.org/10.1007/s40265-018-0905-7
Article CAS PubMed Google Scholar
S. Richards, N. Aziz, S. Bale, D. Bick, S. Das, J. Gastier-Foster, W.W. Wayne, M. Hegde, E. Lyon, E. Spector, K. Voelkerding, H.L. Rhem; ACMG Laboratory Quality Assurance Committee., Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the association for molecular pathology. Genet. Med. 5, 405–424 (2015). https://doi.org/10.1038/gim.2015.30
E.R. Riggs, E.F. Andersen, A.M. Cherry, S. Kantarci, H. Kearney, A. Patel, G. Raca, D.I. Ritter, S.T. South, E.C. Thorland, D. Pineda-Alvarez, S. Aradhya, C.L. Martin, Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet. Med. 22, 245–257 (2020). https://doi.org/10.1038/s41436-019-0686-8
M.B. Ranke, Towards a consensus on the definition of idiopathic short stature. Horm. Res. 45(Suppl. 2), 64–66 (1996). https://doi.org/10.1159/000184851
Article CAS PubMed Google Scholar
D. Haffner, M. Leifheit-Nestler, A. Grund, D. Schnabel, Rickets guidance: part II-management. Pediatr. Nephrol. 37, 2289–2302 (2022). https://doi.org/10.1007/s00467-022-05505-5
Article PubMed PubMed Central Google Scholar
R. Padidela, O. Nilsson, O. Makitie, S. Beck-Nielsen, G. Ariceta, D. Schnabel, M.L. Brandi, A. Boot, E. Levtchenko, M. Smyth, R. Jandhyala, Z. Mughal, The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study. Orphanet. J. Rare. Dis. 15, 172 (2020). https://doi.org/10.1186/s13023-020-01434-4
Article PubMed PubMed Central Google Scholar
W.L. Miller, E.A. Imel, Rickets, vitamin D, and Ca/P metabolism. Horm. Res. Paediatr. 95, 579–592 (2022). https://doi.org/10.1159/000527011
Article CAS PubMed Google Scholar
K.B. Jonsson, R. Zahradnik, T. Larsson, K.E. White, T. Sugimoto, Y. Imanishi, T. Yamamoto, G. Hampson, H. Koshiyama, O. Ljunggren, K. Oba, I.M. Yang, A. Miyauchi, M.J. Econs, J. Lavigne, H. Jüppner, Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N. Engl. J. Med. 348, 1656–1663 (2003). https://doi.org/10.1056/NEJMoa020881
Article CAS PubMed Google Scholar
G. Jones, M.L. Kottler, K.P. Schlingmann, Genetic diseases of vitamin D metabolizing enzymes. Endocrinol. Metab. Clin. North. Am. 46, 1095–1117 (2017). https://doi.org/10.1016/j.ecl.2017.07.011
C. Bergwitz, K.I. Miyamoto, Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. Pflugers. Arch. 471, 149–163 (2019). https://doi.org/10.1007/s00424-018-2184-2
Article CAS PubMed Google Scholar
S. Capelli, V. Donghi, K. Maruca, G. Vezzoli, S. Corbetta, M.L. Brandi, S. Mora, G. Weber, Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets. Bone 79, 143–149 (2015). https://doi.org/10.1016/j.bone.2015.05.04
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