{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:49:05Z","timestamp":1747198145014,"version":"3.40.5"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Osteopetrorickets is a rare complication of autosomal recessive (\u201cmalignant\u201d) osteopetrosis. Its prompt diagnosis is essential, because early suspicion of infantile osteopetrosis enables treatment with human stem cell transplantation, depending on the gene involved. It is important to identify not only the characteristic radiological changes of rickets, but also the coexistence of increased bone\u00a0density, so as not to miss this very rare entity. Herein, a\u00a0brief case report is presented.<\/jats:p>","DOI":"10.1515\/jpem-2023-0001","type":"journal-article","created":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T16:43:01Z","timestamp":1683218581000},"page":"712-715","source":"Crossref","is-referenced-by-count":0,"title":["Severe hypophosphataemia can be an early sign of osteopetrorickets: a case report"],"prefix":"10.1515","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0562-6670","authenticated-orcid":false,"given":"Artemis","family":"Doulgeraki","sequence":"first","affiliation":[{"name":"Department of Bone and Mineral Metabolism , Institute of Child Health , Athens , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Bani-Odeh","sequence":"additional","affiliation":[{"name":"4th Department of Paediatrics, Papageorgiou General Hospital, Faculty of Health Sciences , Aristotle University of Thessaloniki , Thessaloniki , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Despina","family":"Tramma","sequence":"additional","affiliation":[{"name":"4th Department of Paediatrics, Papageorgiou General Hospital, Faculty of Health Sciences , Aristotle University of Thessaloniki , Thessaloniki , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios","family":"Giataganas","sequence":"additional","affiliation":[{"name":"Department of Radiology , Papageorgiou General Hospital of Thessaloniki , Thessaloniki , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fotis","family":"Kirvassilis","sequence":"additional","affiliation":[{"name":"3rd Department of Paediatrics, Ippokratio General Hospital, Faculty of Health Sciences , Aristotle University of Thessaloniki , Thessaloniki , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konstantinos","family":"Kollios","sequence":"additional","affiliation":[{"name":"3rd Department of Paediatrics, Ippokratio General Hospital, Faculty of Health Sciences , Aristotle University of Thessaloniki , Thessaloniki , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Fotoulaki","sequence":"additional","affiliation":[{"name":"4th Department of Paediatrics, Papageorgiou General Hospital, Faculty of Health Sciences , Aristotle University of Thessaloniki , Thessaloniki , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,5,5]]},"reference":[{"key":"2023070813115022497_j_jpem-2023-0001_ref_001","doi-asserted-by":"crossref","unstructured":"Palagano, E, Menale, C, Sobacchi, C, Villa, A. Genetics of osteopetrosis. Curr Osteoporos Rep 2018;16:13\u201325. https:\/\/doi.org\/10.1007\/s11914-018-0415-2.","DOI":"10.1007\/s11914-018-0415-2"},{"key":"2023070813115022497_j_jpem-2023-0001_ref_002","doi-asserted-by":"crossref","unstructured":"Freese, J, Greenup, E, Sunil, B, Ashraf, A. Osteopetrorickets presenting with failure to thrive and hypophosphatemia. J Endocr Soc 2020;4:1\u20135. https:\/\/doi.org\/10.1210\/jendso\/bvaa044.","DOI":"10.1210\/jendso\/bvaa044"},{"key":"2023070813115022497_j_jpem-2023-0001_ref_003","doi-asserted-by":"crossref","unstructured":"Atay, AA, Kurekci, AE, Azik, FM, Gulgun, M, Yavuz, T, Ozcan, O. High dose calcitriol in osteopetrorickets. J Pediatr Endocrinol Metab 2009;22:1179\u201383. https:\/\/doi.org\/10.1515\/jpem.2009.22.12.1179.","DOI":"10.1515\/JPEM.2009.22.12.1179"},{"key":"2023070813115022497_j_jpem-2023-0001_ref_004","doi-asserted-by":"crossref","unstructured":"Demirel, F, Esen, I, Tunc, B, Tavil, B. Scarcity despite wealth: osteopetrorickets. J Pediatr Endocrinol Metab 2010;23:931\u20134. https:\/\/doi.org\/10.1515\/jpem.2010.149.","DOI":"10.1515\/jpem.2010.149"},{"key":"2023070813115022497_j_jpem-2023-0001_ref_005","doi-asserted-by":"crossref","unstructured":"Wu, CC, Econs, MJ, DiMeglio, LA, Insogna, KL, Levine, MA, Orchard, PJ, et al.. Diagnosis and management of osteopetrosis: consensus guidelines from the osteopetrosis working group. J Clin Endocrinol Metab 2017;102:3111\u201323. https:\/\/doi.org\/10.1210\/jc.2017-01127.","DOI":"10.1210\/jc.2017-01127"},{"key":"2023070813115022497_j_jpem-2023-0001_ref_006","doi-asserted-by":"crossref","unstructured":"Stepensky, P, Grisariu, S, Avni, B, Zaidman, I, Shadur, B, Elpeleg, O, et al.. Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years. Blood Adv 2019;26:862\u20138. https:\/\/doi.org\/10.1182\/bloodadvances.2018025890.","DOI":"10.1182\/bloodadvances.2018025890"},{"key":"2023070813115022497_j_jpem-2023-0001_ref_007","doi-asserted-by":"crossref","unstructured":"Zirngibl, RA, Wang, A, Yao, Y, Manolson, MF, Krueger, J, Dupuis, L, et al.. Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis. J Cell Biochem 2019;120:17180\u201393. https:\/\/doi.org\/10.1002\/jcb.28979.","DOI":"10.1002\/jcb.28979"},{"key":"2023070813115022497_j_jpem-2023-0001_ref_008","doi-asserted-by":"crossref","unstructured":"Simanovsky, N, Rozovsky, K, Hiller, N, Weintraub, M, Stepensky, P. Extending the spectrum of radiological findings in patients with severe osteopetrosis and different genetic backgrounds. Pediatr Blood Cancer 2016;63:1222\u20136. https:\/\/doi.org\/10.1002\/pbc.25952.","DOI":"10.1002\/pbc.25952"},{"key":"2023070813115022497_j_jpem-2023-0001_ref_009","doi-asserted-by":"crossref","unstructured":"Kuroyanagi, Y, Kawasaki, H, Noda, Y, Ohmachi, T, Sekiya, S, Yoshimura, K, et al.. A fatal case of infantile malignant osteopetrosis complicated by pulmonary arterial hypertension after hematopoietic stem cell transplantation. Tohoku J Exp Med 2014;234:309\u201312. https:\/\/doi.org\/10.1620\/tjem.234.309.","DOI":"10.1620\/tjem.234.309"},{"key":"2023070813115022497_j_jpem-2023-0001_ref_010","doi-asserted-by":"crossref","unstructured":"Gonen, KA, Yazici, Z, Gokalp, G, Ucar, AK. Infantile osteopetrosis with superimposed rickets. 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