{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:14:33Z","timestamp":1792782873333,"version":"4.5.0"},"reference-count":110,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T00:00:00Z","timestamp":1625702400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T00:00:00Z","timestamp":1625702400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Fonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005878","name":"Terveyden Tutkimuksen Toimikunta","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005878","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005744","name":"Lastentautien Tutkimuss\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005744","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004810","name":"Samfundet Folkh\u00e4lsan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004810","id-type":"DOI","asserted-by":"publisher"}]},{"name":"University of Helsinki including Helsinki University Central Hospital","id":[{"id":"https:\/\/ror.org\/040af2s02","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Calcif Tissue Int"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Osteoporosis is a skeletal disorder with enhanced bone fragility, usually affecting the elderly. It is very rare in children and young adults and the definition is not only based on a low BMD (a\n                    <jats:italic>Z<\/jats:italic>\n                    -score\u2009&lt;\u2009\u2212\u20092.0 in growing children and a\n                    <jats:italic>Z<\/jats:italic>\n                    -score\u2009\u2264\u2009\u2212\u20092.0 or a\n                    <jats:italic>T<\/jats:italic>\n                    -score\u2009\u2264\u2009\u2212\u20092.5 in young adults) but also on the occurrence of fragility fractures and\/or the existence of underlying chronic diseases or secondary factors such as use of glucocorticoids. In the absence of a known chronic disease, fragility fractures and low BMD should prompt extensive screening for secondary causes, which can be found in up to 90% of cases. When fragility fractures occur in childhood or young adulthood without an evident secondary cause, investigations should explore the possibility of an underlying monogenetic bone disease, where bone fragility is caused by a single variant in a gene that has a major role in the skeleton. Several monogenic forms relate to type I collagen, but other forms also exist. Loss-of-function variants in\n                    <jats:italic>LRP5<\/jats:italic>\n                    and\n                    <jats:italic>WNT1<\/jats:italic>\n                    may lead to early-onset osteoporosis. The X-chromosomal osteoporosis caused by\n                    <jats:italic>PLS3<\/jats:italic>\n                    gene mutations affects especially males. Another recently discovered form relates to disturbed sphingolipid metabolism due to\n                    <jats:italic>SGMS2<\/jats:italic>\n                    mutations, underscoring the complexity of molecular pathology in monogenic early-onset osteoporosis. Management of young patients consists of treatment of secondary factors, optimizing lifestyle factors including calcium and vitamin D and physical exercise. Treatment with bone-active medication should be discussed on a personalized basis, considering the severity of osteoporosis and underlying disease versus the absence of evidence on anti-fracture efficacy and potential harmful effects in pregnancy.\n                  <\/jats:p>","DOI":"10.1007\/s00223-021-00885-6","type":"journal-article","created":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T02:02:30Z","timestamp":1625709750000},"page":"546-561","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":80,"title":["Early-Onset Osteoporosis"],"prefix":"10.1007","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4547-001X","authenticated-orcid":false,"given":"Outi","family":"M\u00e4kitie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9186-3423","authenticated-orcid":false,"given":"M. Carola","family":"Zillikens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,8]]},"reference":[{"key":"885_CR1","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1007\/s001980050281","volume":"11","author":"JA Kanis","year":"2000","unstructured":"Kanis JA, Gluer CC (2000) An update on the diagnosis and assessment of osteoporosis with densitometry. Committee of Scientific Advisors International Osteoporosis Foundation. Osteoporos Int 11:192\u2013202","journal-title":"Osteoporos Int"},{"issue":"10","key":"885_CR2","doi-asserted-by":"publisher","first-page":"70","DOI":"10.3389\/fendo.2019.00070","volume":"25","author":"RE M\u00e4kitie","year":"2019","unstructured":"M\u00e4kitie RE, Costantini A, K\u00e4mpe A, Alm JJ, M\u00e4kitie O (2019) New insights into monogenic causes of osteoporosis. Front Endocrinol (Lausanne) 25(10):70. https:\/\/doi.org\/10.3389\/fendo.2019.00070","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"8","key":"885_CR3","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1038\/nrrheum.2013.45","volume":"9","author":"O M\u00e4kitie","year":"2013","unstructured":"M\u00e4kitie O (2013) Causes, mechanisms and management of paediatric osteoporosis. Nat Rev Rheumatol 9(8):465\u2013475. https:\/\/doi.org\/10.1038\/nrrheum.2013.45","journal-title":"Nat Rev Rheumatol"},{"issue":"8","key":"885_CR4","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1038\/s41574-020-0341-0","volume":"16","author":"P Chotiyarnwong","year":"2020","unstructured":"Chotiyarnwong P, McCloskey EV (2020) Pathogenesis of glucocorticoid-induced osteoporosis and options for treatment. Nat Rev Endocrinol 16(8):437\u2013447. https:\/\/doi.org\/10.1038\/s41574-020-0341-0","journal-title":"Nat Rev Endocrinol"},{"issue":"1","key":"885_CR5","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1186\/s12969-020-0411-9","volume":"18","author":"R Galindo-Zavala","year":"2020","unstructured":"Galindo-Zavala R, Bou-Torrent R, Magallares-L\u00f3pez B, Mir-Perell\u00f3 C, Palmou-Fontana N, Sevilla-P\u00e9rez B, Medrano-San Ildefonso M, Gonz\u00e1lez-Fern\u00e1ndez MI, Rom\u00e1n-Pascual A, Alca\u00f1iz-Rodr\u00edguez P, Nieto-Gonzalez JC, L\u00f3pez-Corbeto M, Gra\u00f1a-Gil J (2020) Expert panel consensus recommendations for diagnosis and treatment of secondary osteoporosis in children. Pediatr Rheumatol Online J 18(1):20. https:\/\/doi.org\/10.1186\/s12969-020-0411-9","journal-title":"Pediatr Rheumatol Online J"},{"issue":"6","key":"885_CR6","doi-asserted-by":"publisher","first-page":"1436","DOI":"10.1016\/j.jpeds.2014.01.073","volume":"164","author":"S Laakso","year":"2014","unstructured":"Laakso S, Valta H, Verkasalo M, Toiviainen-Salo S, M\u00e4kitie O (2014) Compromised peak bone mass in patients with inflammatory bowel disease\u2014a prospective study. J Pediatr 164(6):1436\u201343.e1. https:\/\/doi.org\/10.1016\/j.jpeds.2014.01.073","journal-title":"J Pediatr"},{"issue":"4","key":"885_CR7","doi-asserted-by":"publisher","first-page":"e1229","DOI":"10.1542\/peds.2014-2173","volume":"134","author":"NH Golden","year":"2014","unstructured":"Golden NH, Abrams SA, Committee on Nutrition (2014) Optimizing bone health in children and adolescents. Pediatrics 134(4):e1229-43. https:\/\/doi.org\/10.1542\/peds.2014-2173","journal-title":"Pediatrics"},{"issue":"1","key":"885_CR8","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1007\/s11684-020-0748-y","volume":"15","author":"X Zhu","year":"2021","unstructured":"Zhu X, Zheng H (2021) Factors influencing peak bone mass gain. Front Med 15(1):53\u201369. https:\/\/doi.org\/10.1007\/s11684-020-0748-y","journal-title":"Front Med"},{"issue":"6","key":"885_CR9","doi-asserted-by":"publisher","first-page":"766","DOI":"10.4103\/ijem.IJEM_588_18","volume":"22","author":"SH Rahaman","year":"2018","unstructured":"Rahaman SH, Jyotsna VP, Kandasamy D, Shreenivas V, Gupta N, Tandon N (2018) Bone health in patients with Cushing\u2019s syndrome. Indian J Endocrinol Metab 22(6):766\u2013769","journal-title":"Indian J Endocrinol Metab"},{"issue":"6","key":"885_CR10","doi-asserted-by":"publisher","first-page":"1255","DOI":"10.1007\/s00198-019-04893-z","volume":"30","author":"E Cairoli","year":"2019","unstructured":"Cairoli E, Eller-Vainicher C, Morlacchi LC, Tarsia P, Rossetti V, Pappalettera M, Arosio M, Chiodini I, Blasi F (2019) Bone involvement in young adults with cystic fibrosis awaiting lung transplantation for end-stage respiratory failure. Osteoporos Int 30(6):1255\u20131263","journal-title":"Osteoporos Int"},{"issue":"4","key":"885_CR11","doi-asserted-by":"publisher","first-page":"1281","DOI":"10.1007\/s00198-015-3440-3","volume":"27","author":"CM Weaver","year":"2016","unstructured":"Weaver CM, Gordon CM, Janz KF, Kalkwarf HJ, Lappe JM, Lewis R, O\u2019Karma M, Wallace TC, Zemel BS (2016) The National Osteoporosis Foundation\u2019s position statement on peak bone mass development and lifestyle factors: a systematic review and implementation recommendations. Osteoporos Int 27(4):1281\u20131386. https:\/\/doi.org\/10.1007\/s00198-015-3440-3 (Erratum in: Osteoporos Int. 2016 Apr;27(4):1387)","journal-title":"Osteoporos Int"},{"key":"885_CR12","doi-asserted-by":"publisher","first-page":"1948","DOI":"10.1002\/jbmr.95","volume":"25","author":"C Berger","year":"2010","unstructured":"Berger C, Goltzman D, Langsetmo L, Joseph L, Jackson S, Kreiger N, Tenenhouse A, Davison KS, Josse RG, Prior JC, Hanley DA (2010) Peak bone mass from longitudinal data: implications for the prevalence, pathophysiology, and diagnosis of osteoporosis. J Bone Miner Res 25:1948\u20131957","journal-title":"J Bone Miner Res"},{"issue":"6","key":"885_CR13","doi-asserted-by":"publisher","first-page":"1115","DOI":"10.1016\/j.bone.2008.08.106","volume":"43","author":"EM Lewiecki","year":"2008","unstructured":"Lewiecki EM, Gordon CM, Baim S, Leonard MB, Bishop NJ, Bianchi ML, Kalkwarf HJ, Langman CB, Plotkin H, Rauch F, Zemel BS, Binkley N, Bilezikian JP, Kendler DL, Hans DB, Silverman S (2008) International society for clinical densitometry 2007 adult and pediatric official positions. Bone 43(6):1115\u20131121. https:\/\/doi.org\/10.1016\/j.bone.2008.08.106","journal-title":"Bone"},{"issue":"12","key":"885_CR14","doi-asserted-by":"publisher","first-page":"2735","DOI":"10.1007\/s00198-012-2030-x","volume":"23","author":"S Ferrari","year":"2012","unstructured":"Ferrari S, Bianchi ML, Eisman JA, Foldes AJ, Adami S, Wahl DA, Stepan JJ, de Vernejoul MC, Kaufman JM, IOF Committee of Scientific Advisors Working Group on Osteoporosis Pathophysiology (2012) Osteoporosis in young adults: pathophysiology, diagnosis, and management. Osteoporos Int 23(12):2735\u201348. https:\/\/doi.org\/10.1007\/s00198-012-2030-x","journal-title":"Osteoporos Int"},{"issue":"6","key":"885_CR15","doi-asserted-by":"publisher","first-page":"1413","DOI":"10.1002\/jbmr.1579","volume":"27","author":"MK M\u00e4yr\u00e4np\u00e4\u00e4","year":"2012","unstructured":"M\u00e4yr\u00e4np\u00e4\u00e4 MK, Viljakainen HT, Toiviainen-Salo S, Kallio PE, M\u00e4kitie O (2012) Impaired bone health and asymptomatic vertebral compressions in fracture-prone children: a case-control study. J Bone Miner Res 27(6):1413\u20131424. https:\/\/doi.org\/10.1002\/jbmr.1579","journal-title":"J Bone Miner Res"},{"issue":"4","key":"885_CR16","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1038\/nrendo.2016.14","volume":"12","author":"MP Whyte","year":"2016","unstructured":"Whyte MP (2016) Hypophosphatasia\u2014aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 12(4):233\u2013246. https:\/\/doi.org\/10.1038\/nrendo.2016.14","journal-title":"Nat Rev Endocrinol"},{"issue":"6","key":"885_CR17","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.1111\/bcp.13803","volume":"85","author":"FM Hannan","year":"2019","unstructured":"Hannan FM, Newey PJ, Whyte MP, Thakker RV (2019) Genetic approaches to metabolic bone diseases. Br J Clin Pharmacol 85(6):1147\u20131160. https:\/\/doi.org\/10.1111\/bcp.13803","journal-title":"Br J Clin Pharmacol"},{"issue":"6","key":"885_CR18","doi-asserted-by":"publisher","first-page":"770","DOI":"10.1016\/j.bone.2005.06.017","volume":"37","author":"SL Ferrari","year":"2005","unstructured":"Ferrari SL, Deutsch S, Baudoin C, Cohen-Solal M, Ostertag A, Antonarakis SE, Rizzoli R, de Vernejoul MC (2005) LRP5 gene polymorphisms and idiopathic osteoporosis in men. Bone 37(6):770\u2013775","journal-title":"Bone"},{"issue":"8","key":"885_CR19","doi-asserted-by":"publisher","first-page":"dgaa306","DOI":"10.1210\/clinem\/dgaa306","volume":"105","author":"J Pepe","year":"2020","unstructured":"Pepe J, Body JJ, Hadji P, McCloskey E, Meier C, Obermayer-Pietsch B, Palermo A, Tsourdi E, Zillikens MC, Langdahl B, Ferrari S (2020) Osteoporosis in Premenopausal Women: A Clinical Narrative Review by the ECTS and the IOF. J Clin Endocrinol Metab 105(8):dgaa306. https:\/\/doi.org\/10.1210\/clinem\/dgaa306","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"885_CR20","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000005861","volume":"96","author":"L Yao","year":"2017","unstructured":"Yao L, Wang H, Dong W, Liu Z, Mao H (2017) Efficacy and safety of bisphosphonates in management of low bone density in inflammatory bowel disease: a meta-analysis. Medicine (Baltimore) 96(3):e5861. https:\/\/doi.org\/10.1097\/MD.0000000000005861","journal-title":"Medicine (Baltimore)"},{"key":"885_CR21","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jbo.2017.03.001","volume":"7","author":"P Hadji","year":"2017","unstructured":"Hadji P, Aapro MS, Body JJ, Gnant M, Brandi ML, Reginster JY, Zillikens MC, Gl\u00fcer CC, de Villiers T, Baber R, Roodman GD, Cooper C, Langdahl B, Palacios S, Kanis J, Al-Daghri N, Nogues X, Eriksen EF, Kurth A, Rizzoli R, Coleman RE (2017) Management of aromatase inhibitor-associated bone loss (AIBL) in postmenopausal women with hormone sensitive breast cancer: joint position statement of the IOF, CABS, ECTS, IEG, ESCEO IMS, and SIOG. J Bone Oncol 7:1\u201312. https:\/\/doi.org\/10.1016\/j.jbo.2017.03.001","journal-title":"J Bone Oncol"},{"issue":"11","key":"885_CR22","doi-asserted-by":"publisher","first-page":"2557","DOI":"10.1007\/s00198-018-4642-2","volume":"29","author":"I Kyvernitakis","year":"2018","unstructured":"Kyvernitakis I, Kostev K, Hadji P (2018) The tamoxifen paradoxinfluence of adjuvant tamoxifen on fracture risk in pre- and postmenopausal women with breast cancer. Osteoporos Int 29(11):2557\u20132564","journal-title":"Osteoporos Int"},{"key":"885_CR23","doi-asserted-by":"crossref","unstructured":"Waqas K, Ferreira JL, Tsourdi E, Body J, Hadji P, Zillikens M.C. Updated guidance on the management of cancer treatment-induced bone loss (CTIBL) in pre- and postmenopausal women with early-stage breast cancer. J Bone Oncol 2021, in press","DOI":"10.1016\/j.jbo.2021.100355"},{"issue":"5","key":"885_CR24","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1111\/acps.12556","volume":"133","author":"M Solmi","year":"2016","unstructured":"Solmi M, Veronese N, Correll CU, Favaro A, Santonastaso P, Caregaro L, Vancampfort D, Luchini C, De Hert M, Stubbs B (2016) Bone mineral density, osteoporosis, and fractures among people with eating disorders: a systematic review and meta-analysis. Acta Psychiatr Scand 133(5):341\u2013351","journal-title":"Acta Psychiatr Scand"},{"issue":"5","key":"885_CR25","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1001\/archinte.165.5.561","volume":"165","author":"KK Miller","year":"2005","unstructured":"Miller KK, Grinspoon SK, Ciampa J et al (2005) Medical findings in outpatients with anorexia nervosa. Arch Intern Med 165(5):561\u2013566","journal-title":"Arch Intern Med"},{"issue":"3","key":"885_CR26","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1016\/j.ecl.2013.05.007","volume":"42","author":"KK Miller","year":"2013","unstructured":"Miller KK (2013) Endocrine effects of anorexia nervosa. Endocrinol Metab Clin North Am 42(3):515\u2013528. https:\/\/doi.org\/10.1016\/j.ecl.2013.05.007","journal-title":"Endocrinol Metab Clin North Am"},{"key":"885_CR27","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.jpsychores.2017.05.011","volume":"98","author":"L Robinson","year":"2017","unstructured":"Robinson L, Aldridge V, Clark EM, Misra M, Micali N (2017) Pharmacological treatment options for low bone mineral density and secondary osteoporosis in anorexia nervosa: a systematic review of the literature. J Psychosom Res 98:87\u201397. https:\/\/doi.org\/10.1016\/j.jpsychores.2017.05.011","journal-title":"J Psychosom Res"},{"key":"885_CR28","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1136\/bjsports-2013-093218","volume":"48","author":"MJ De Souza","year":"2014","unstructured":"De Souza MJ, Nattiv A, Joy E (2014) Expert panel, 2014 Female athlete triad coalition consensus statement on treatment and return to play of the female athlete triad: 1st international conference held in San Francisco, California, May 2012 and 2nd international conference held in Indianapolis, Indiana, May 2013. Br J Sports Med 48:289. https:\/\/doi.org\/10.1136\/bjsports-2013-093218","journal-title":"Br J Sports Med"},{"issue":"26","key":"885_CR29","doi-asserted-by":"publisher","first-page":"2547","DOI":"10.1056\/NEJMcp1800214","volume":"379","author":"L Buckley","year":"2018","unstructured":"Buckley L, Humphrey MB (2018) Glucocorticoid-induced osteoporosis. N Engl J Med 379(26):2547\u20132556","journal-title":"N Engl J Med"},{"issue":"9","key":"885_CR30","doi-asserted-by":"publisher","first-page":"1667","DOI":"10.1002\/jbmr.2511","volume":"30","author":"CM LeBlanc","year":"2015","unstructured":"LeBlanc CM, Ma J, Taljaard M, Roth J, Scuccimarri R, Miettunen P, Lang B, Huber AM, Houghton K, Jaremko JL, Ho J, Shenouda N, Matzinger MA, Lentle B, Stein R, Sbrocchi AM, Oen K, Rodd C, Jurencak R, Cummings EA, Couch R, Cabral DA, Atkinson S, Alos N, Rauch F, Siminoski K, Ward LM, Canadian STeroid-Associated Osteoporosis in Pediatric Population (STOPP) Consortium (2015) Incident vertebral fractures and risk factors in the first three years following glucocorticoid initiation among pediatric patients with rheumatic disorders. J Bone Miner Res 30(9):1667\u201375. https:\/\/doi.org\/10.1002\/jbmr.2511","journal-title":"J Bone Miner Res"},{"issue":"8","key":"885_CR31","doi-asserted-by":"publisher","first-page":"1521","DOI":"10.1002\/art.40137","volume":"69","author":"L Buckley","year":"2017","unstructured":"Buckley L, Guyatt G, Fink HA, Cannon M, Grossman J, Hansen KE, Humphrey MB, Lane NE, Magrey M, Miller M, Morrison L, Rao M, Robinson AB, Saha S, Wolver S, Bannuru RR, Vaysbrot E, Osani M, Turgunbaev M, Miller AS, McAlindon T (2017) 2017 American College of rheumatology guideline for the prevention and treatment of glucocorticoid-induced osteoporosis. Arthritis Rheumatol 69(8):1521\u20131537. https:\/\/doi.org\/10.1002\/art.40137","journal-title":"Arthritis Rheumatol"},{"issue":"1","key":"885_CR32","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1007\/s00198-017-4239-1","volume":"29","author":"I Kyvernitakis","year":"2018","unstructured":"Kyvernitakis I, Reuter TC, Hellmeyer L, Hars O, Hadji P (2018) Subsequent fracture risk of women with pregnancy and lactation-associated osteoporosis after a median of 6 years of follow-up. Osteoporos Int 29(1):135\u2013142. https:\/\/doi.org\/10.1007\/s00198-017-4239-1","journal-title":"Osteoporos Int"},{"issue":"9","key":"885_CR33","doi-asserted-by":"publisher","first-page":"1552","DOI":"10.1002\/jbmr.3750","volume":"34","author":"A Cohen","year":"2019","unstructured":"Cohen A, Kamanda-Kosseh M, Dempster DW, Zhou H, M\u00fcller R, Goff E, Colon I, Bucovsky M, Stubby J, Nickolas TL, Stein EM, Recker RR, Lappe JM, Shane E (2019) Women with pregnancy and lactation-associated osteoporosis (PLO) have low bone remodeling rates at the tissue level. J Bone Miner Res 34(9):1552\u20131561","journal-title":"J Bone Miner Res"},{"issue":"4","key":"885_CR34","doi-asserted-by":"publisher","first-page":"1107","DOI":"10.1210\/jc.2013-3238","volume":"99","author":"N Campos-Obando","year":"2014","unstructured":"Campos-Obando N, Oei L, Hoefsloot LH, Kiewiet RM, Klaver CC, Simon ME, Zillikens MC (2014) Osteoporotic vertebral fractures during pregnancy: be aware of a potential underlying genetic cause. J Clin Endocrinol Metab 99(4):1107\u20131111. https:\/\/doi.org\/10.1210\/jc.2013-3238","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"885_CR35","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1016\/j.bone.2008.11.004","volume":"44","author":"A Ostertag","year":"2009","unstructured":"Ostertag A, Cohen-Solal M, Audran M, Legrand E, Marty C, Chappard D, de Vernejoul MC (2009) Vertebral fractures are associated with increased cortical porosity in iliac crest bone biopsy of men with idiopathic osteoporosis. Bone 44(3):413\u2013417","journal-title":"Bone"},{"issue":"5","key":"885_CR36","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1007\/s00223-018-0447-8","volume":"103","author":"T Rolvien","year":"2018","unstructured":"Rolvien T, St\u00fcrznickel J, Schmidt FN, Butscheidt S, Schmidt T, Busse B, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R (2018) Comparison of bone microarchitecture between adult osteogenesis imperfecta and early-onset osteoporosis. Calcif Tissue Int 103(5):512\u2013521","journal-title":"Calcif Tissue Int"},{"issue":"1","key":"885_CR37","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1002\/jbm4.10020","volume":"2","author":"C Collet","year":"2017","unstructured":"Collet C, Ostertag A, Ricquebourg M, Delecourt M, Tueur G, Isidor B, Guillot P, Schaefer E, Javier RM, Funck-Brentano T, Orcel P, Laplanche JL, Cohen-Solal M (2017) Primary osteoporosis in young adults: genetic basis and identification of novel variants in causal genes. JBMR Plus 2(1):12\u201321","journal-title":"JBMR Plus"},{"issue":"5","key":"885_CR38","doi-asserted-by":"publisher","first-page":"783","DOI":"10.1359\/JBMR.050101","volume":"20","author":"H Hartikka","year":"2005","unstructured":"Hartikka H, M\u00e4kitie O, M\u00e4nnikk\u00f6 M, Doria AS, Daneman A, Cole WG, Ala-Kokko L, Sochett EB (2005) Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children. J Bone Miner Res 20(5):783\u2013789. https:\/\/doi.org\/10.1359\/JBMR.050101","journal-title":"J Bone Miner Res"},{"key":"885_CR39","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-021-00477-2","author":"A Arnold","year":"2021","unstructured":"Arnold A, Dennison E, Kovacs CS, Mannstadt M, Rizzoli R, Brandi ML, Clarke B, Thakker RV (2021) Hormonal regulation of biomineralization. Nat Rev Endocrinol. https:\/\/doi.org\/10.1038\/s41574-021-00477-2","journal-title":"Nat Rev Endocrinol"},{"issue":"3","key":"885_CR40","doi-asserted-by":"publisher","first-page":"17052","DOI":"10.1038\/nrdp.2017.52","volume":"18","author":"JC Marini","year":"2017","unstructured":"Marini JC, Forlino A, B\u00e4chinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O (2017) Osteogenesis imperfecta. Nat Rev Dis Primers 18(3):17052. https:\/\/doi.org\/10.1038\/nrdp.2017.52","journal-title":"Nat Rev Dis Primers"},{"issue":"6","key":"885_CR41","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1007\/s00223-012-9588-3","volume":"90","author":"T Cundy","year":"2012","unstructured":"Cundy T (2012) Recent advances in osteogenesis imperfecta. Calcif Tissue Int 90(6):439\u2013449. https:\/\/doi.org\/10.1007\/s00223-012-9588-3","journal-title":"Calcif Tissue Int"},{"issue":"15","key":"885_CR42","doi-asserted-by":"publisher","first-page":"3033","DOI":"10.1111\/febs.14963","volume":"286","author":"R Besio","year":"2019","unstructured":"Besio R, Chow CW, Tonelli F, Marini JC, Forlino A (2019) Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes. FEBS J 286(15):3033\u20133056. https:\/\/doi.org\/10.1111\/febs.14963","journal-title":"FEBS J"},{"issue":"11","key":"885_CR43","doi-asserted-by":"publisher","first-page":"165","DOI":"10.3389\/fendo.2020.00165","volume":"9","author":"Y Huybrechts","year":"2020","unstructured":"Huybrechts Y, Mortier G, Boudin E, Van Hul W (2020) WNT signaling and bone: lessons from skeletal dysplasias and disorders. Front Endocrinol (Lausanne) 9(11):165. https:\/\/doi.org\/10.3389\/fendo.2020.00165","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"4","key":"885_CR44","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1016\/s0092-8674(01)00571-2","volume":"107","author":"Y Gong","year":"2001","unstructured":"Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, J\u00fcppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML, Osteoporosis-Pseudoglioma Syndrome Collaborative Group (2001) LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell. 107(4):513\u201323. https:\/\/doi.org\/10.1016\/s0092-8674(01)00571-2","journal-title":"Cell."},{"issue":"19","key":"885_CR45","doi-asserted-by":"publisher","first-page":"1809","DOI":"10.1056\/NEJMoa1215458","volume":"368","author":"CM Laine","year":"2013","unstructured":"Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kr\u00f6ger H, Cole WG, Lehesjoki AE, Nevarez L, Krakow D, Curry CJ, Cohn DH, Gibbs RA, Lee BH, M\u00e4kitie O (2013) WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med 368(19):1809\u20131816. https:\/\/doi.org\/10.1056\/NEJMoa1215458","journal-title":"N Engl J Med"},{"issue":"9","key":"885_CR46","doi-asserted-by":"publisher","first-page":"1734","DOI":"10.1002\/jbmr.2841","volume":"31","author":"RE M\u00e4kitie","year":"2016","unstructured":"M\u00e4kitie RE, Haanp\u00e4\u00e4 M, Valta H, Pekkinen M, Laine CM, Lehesjoki AE, Schalin-J\u00e4ntti C, M\u00e4kitie O (2016) Skeletal characteristics of WNT1 osteoporosis in children and young adults. J Bone Miner Res 31(9):1734\u20131742. https:\/\/doi.org\/10.1002\/jbmr.2841","journal-title":"J Bone Miner Res"},{"issue":"2","key":"885_CR47","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1002\/jbmr.4197","volume":"36","author":"J St\u00fcrznickel","year":"2021","unstructured":"St\u00fcrznickel J, Rolvien T, Delsmann A, Butscheidt S, Barvencik F, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R (2021) Clinical phenotype and relevance of LRP5 and LRP6 variants in patients with early-onset osteoporosis (EOOP). J Bone Miner Res 36(2):271\u2013282. https:\/\/doi.org\/10.1002\/jbmr.4197","journal-title":"J Bone Miner Res"},{"issue":"8","key":"885_CR48","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1136\/jmg.25.8.543","volume":"25","author":"H Somer","year":"1988","unstructured":"Somer H, Palotie A, Somer M, Hoikka V, Peltonen L (1988) Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies. J Med Genet 25(8):543\u2013549. https:\/\/doi.org\/10.1136\/jmg.25.8.543","journal-title":"J Med Genet"},{"issue":"4","key":"885_CR49","doi-asserted-by":"publisher","first-page":"1006","DOI":"10.1016\/j.bone.2006.11.010","volume":"40","author":"A Saarinen","year":"2007","unstructured":"Saarinen A, V\u00e4lim\u00e4ki VV, V\u00e4lim\u00e4ki MJ, L\u00f6yttyniemi E, Auro K, Uusen P, Kuris M, Lehesjoki AE, M\u00e4kitie O (2007) The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men. Bone 40(4):1006\u20131012. https:\/\/doi.org\/10.1016\/j.bone.2006.11.010","journal-title":"Bone"},{"issue":"5","key":"885_CR50","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1038\/ng.2249","volume":"44","author":"K Estrada","year":"2012","unstructured":"Estrada K, Styrkarsdottir U, Evangelou E, Hsu YH, Duncan EL, Ntzani EE, Oei L, Albagha OM, Amin N, Kemp JP, Koller DL, Li G, Liu CT, Minster RL, Moayyeri A, Vandenput L, Willner D, Xiao SM, Yerges-Armstrong LM, Zheng HF, Alonso N, Eriksson J, Kammerer CM, Kaptoge SK, Leo PJ, Thorleifsson G, Wilson SG, Wilson JF, Aalto V, Alen M, Aragaki AK, Aspelund T, Center JR, Dailiana Z, Duggan DJ, Garcia M, Garcia-Giralt N, Giroux S, Hallmans G, Hocking LJ, Husted LB, Jameson KA, Khusainova R, Kim GS, Kooperberg C, Koromila T, Kruk M, Laaksonen M, Lacroix AZ, Lee SH, Leung PC, Lewis JR, Masi L, Mencej-Bedrac S, Nguyen TV, Nogues X, Patel MS, Prezelj J, Rose LM, Scollen S, Siggeirsdottir K, Smith AV, Svensson O, Trompet S, Trummer O, van Schoor NM, Woo J, Zhu K, Balcells S, Brandi ML, Buckley BM, Cheng S, Christiansen C, Cooper C, Dedoussis G, Ford I, Frost M, Goltzman D, Gonz\u00e1lez-Mac\u00edas J, K\u00e4h\u00f6nen M, Karlsson M, Khusnutdinova E, Koh JM, Kollia P, Langdahl BL, Leslie WD, Lips P, Ljunggren \u00d6, Lorenc RS, Marc J, Mellstr\u00f6m D, Obermayer-Pietsch B, Olmos JM, Pettersson-Kymmer U, Reid DM, Riancho JA, Ridker PM, Rousseau F, Slagboom PE, Tang NL, Urreizti R, Van Hul W, Viikari J, Zarrabeitia MT, Aulchenko YS, Castano-Betancourt M, Grundberg E, Herrera L, Ingvarsson T, Johannsdottir H, Kwan T, Li R, Luben R, Medina-G\u00f3mez C, Palsson ST, Reppe S, Rotter JI, Sigurdsson G, van Meurs JB, Verlaan D, Williams FM, Wood AR, Zhou Y, Gautvik KM, Pastinen T, Raychaudhuri S, Cauley JA, Chasman DI, Clark GR, Cummings SR, Danoy P, Dennison EM, Eastell R, Eisman JA, Gudnason V, Hofman A, Jackson RD, Jones G, Jukema JW, Khaw KT, Lehtim\u00e4ki T, Liu Y, Lorentzon M, McCloskey E, Mitchell BD, Nandakumar K, Nicholson GC, Oostra BA, Peacock M, Pols HA, Prince RL, Raitakari O, Reid IR, Robbins J, Sambrook PN, Sham PC, Shuldiner AR, Tylavsky FA, van Duijn CM, Wareham NJ, Cupples LA, Econs MJ, Evans DM, Harris TB, Kung AW, Psaty BM, Reeve J, Spector TD, Streeten EA, Zillikens MC, Thorsteinsdottir U, Ohlsson C, Karasik D, Richards JB, Brown MA, Stefansson K, Uitterlinden AG, Ralston SH, Ioannidis JP, Kiel DP, Rivadeneira F (2012) Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet 44(5):491\u2013501. https:\/\/doi.org\/10.1038\/ng.2249","journal-title":"Nat Genet"},{"issue":"11","key":"885_CR51","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2020.571549","volume":"25","author":"QF Wang","year":"2020","unstructured":"Wang QF, Bi HS, Qin ZL, Wang P, Nie FF, Zhang GW (2020) Associations of LRP5 gene with bone mineral density, bone turnover markers, and fractures in the elderly with osteoporosis. Front Endocrinol (Lausanne) 25(11):571549. https:\/\/doi.org\/10.3389\/fendo.2020.571549","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"2","key":"885_CR52","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1159\/000336193","volume":"77","author":"B T\u00fcys\u00fcz","year":"2012","unstructured":"T\u00fcys\u00fcz B, Bursal\u0131 A, Alp Z, Suyug\u00fcl N, Laine CM, M\u00e4kitie O (2012) Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment. Horm Res Paediatr 77(2):115\u2013120. https:\/\/doi.org\/10.1159\/000336193","journal-title":"Horm Res Paediatr"},{"issue":"3","key":"885_CR53","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1007\/s00431-018-3299-3","volume":"178","author":"I Papadopoulos","year":"2019","unstructured":"Papadopoulos I, Bountouvi E, Attilakos A, Gole E, Dinopoulos A, Peppa M, Nikolaidou P, Papadopoulou A (2019) Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece. Eur J Pediatr 178(3):323\u2013329. https:\/\/doi.org\/10.1007\/s00431-018-3299-3","journal-title":"Eur J Pediatr"},{"issue":"8","key":"885_CR54","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0221511","volume":"14","author":"P Marozik","year":"2019","unstructured":"Marozik P, Alekna V, Rudenko E, Tamulaitiene M, Rudenka A, Mastaviciute A, Samokhovec V, Cernovas A, Kobets K, Mosse I (2019) Bone metabolism genes variation and response to bisphosphonate treatment in women with postmenopausal osteoporosis. PLoS ONE 14(8):e0221511. https:\/\/doi.org\/10.1371\/journal.pone.0221511","journal-title":"PLoS ONE"},{"issue":"3","key":"885_CR55","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1007\/s00223-008-9207-5","volume":"84","author":"M Kruk","year":"2009","unstructured":"Kruk M, Ralston SH, Albagha OM (2009) LRP5 Polymorphisms and response to risedronate treatment in osteoporotic men. Calcif Tissue Int 84(3):171\u2013179. https:\/\/doi.org\/10.1007\/s00223-008-9207-5","journal-title":"Calcif Tissue Int"},{"issue":"4","key":"885_CR56","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1111\/j.1365-2265.2009.03680.x","volume":"72","author":"A Saarinen","year":"2010","unstructured":"Saarinen A, Saukkonen T, Kivel\u00e4 T, Lahtinen U, Laine C, Somer M, Toiviainen-Salo S, Cole WG, Lehesjoki AE, M\u00e4kitie O (2010) Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia. Clin Endocrinol (Oxf) 72(4):481\u2013488. https:\/\/doi.org\/10.1111\/j.1365-2265.2009.03680.x","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"11","key":"885_CR57","doi-asserted-by":"publisher","first-page":"3805","DOI":"10.1210\/en.2017-00657","volume":"158","author":"SP Kim","year":"2017","unstructured":"Kim SP, Frey JL, Li Z, Goh BC, Riddle RC (2017) Lack of Lrp5 signaling in osteoblasts sensitizes male mice to diet-induced disturbances in glucose metabolism. Endocrinology 158(11):3805\u20133816. https:\/\/doi.org\/10.1210\/en.2017-00657","journal-title":"Endocrinology"},{"issue":"6","key":"885_CR58","doi-asserted-by":"publisher","first-page":"2011","DOI":"10.1007\/s00198-017-3977-4","volume":"28","author":"D Foer","year":"2017","unstructured":"Foer D, Zhu M, Cardone RL, Simpson C, Sullivan R, Nemiroff S, Lee G, Kibbey RG, Petersen KF, Insogna KL (2017) Impact of gain-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) on glucose and lipid homeostasis. Osteoporos Int 28(6):2011\u20132017. https:\/\/doi.org\/10.1007\/s00198-017-3977-4","journal-title":"Osteoporos Int"},{"issue":"13","key":"885_CR59","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1186\/1471-2350-13-26","volume":"10","author":"J Korvala","year":"2012","unstructured":"Korvala J, J\u00fcppner H, M\u00e4kitie O, Sochett E, Schnabel D, Mora S, Bartels CF, Warman ML, Deraska D, Cole WG, Hartikka H, Ala-Kokko L, M\u00e4nnikk\u00f6 M (2012) Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity. BMC Med Genet 10(13):26. https:\/\/doi.org\/10.1186\/1471-2350-13-26","journal-title":"BMC Med Genet"},{"issue":"4","key":"885_CR60","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1016\/j.gep.2008.12.009","volume":"9","author":"F Witte","year":"2009","unstructured":"Witte F, Dokas J, Neuendorf F, Mundlos S, Stricker S (2009) Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation. Gene Expr Patterns 9(4):215\u2013223. https:\/\/doi.org\/10.1016\/j.gep.2008.12.009","journal-title":"Gene Expr Patterns"},{"issue":"11","key":"885_CR61","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1038\/nm.3654","volume":"20","author":"S Mov\u00e9rare-Skrtic","year":"2014","unstructured":"Mov\u00e9rare-Skrtic S, Henning P, Liu X, Nagano K, Saito H, B\u00f6rjesson AE, Sj\u00f6gren K, Windahl SH, Farman H, Kindlund B, Engdahl C, Koskela A, Zhang FP, Eriksson EE, Zaman F, Hammarstedt A, Isaksson H, Bally M, Kassem A, Lindholm C, Sandberg O, Aspenberg P, S\u00e4vendahl L, Feng JQ, Tuckermann J, Tuukkanen J, Poutanen M, Baron R, Lerner UH, Gori F, Ohlsson C (2014) Osteoblast-derived WNT16 represses osteoclastogenesis and prevents cortical bone fragility fractures. Nat Med 20(11):1279\u201388. https:\/\/doi.org\/10.1038\/nm.3654","journal-title":"Nat Med"},{"issue":"7","key":"885_CR62","doi-asserted-by":"publisher","first-page":"e1002745","DOI":"10.1371\/journal.pgen.1002745","volume":"8","author":"HF Zheng","year":"2012","unstructured":"Zheng HF, Tobias JH, Duncan E, Evans DM, Eriksson J, Paternoster L, Yerges-Armstrong LM, Lehtim\u00e4ki T, Bergstr\u00f6m U, K\u00e4h\u00f6nen M, Leo PJ, Raitakari O, Laaksonen M, Nicholson GC, Viikari J, Ladouceur M, Lyytik\u00e4inen LP, Medina-Gomez C, Rivadeneira F, Prince RL, Sievanen H, Leslie WD, Mellstr\u00f6m D, Eisman JA, Mov\u00e9rare-Skrtic S, Goltzman D, Hanley DA, Jones G, St Pourcain B, Xiao Y, Timpson NJ, Smith GD, Reid IR, Ring SM, Sambrook PN, Karlsson M, Dennison EM, Kemp JP, Danoy P, Sayers A, Wilson SG, Nethander M, McCloskey E, Vandenput L, Eastell R, Liu J, Spector T, Mitchell BD, Streeten EA, Brommage R, Pettersson-Kymmer U, Brown MA, Ohlsson C, Richards JB, Lorentzon M (2012) WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk. PLoS Genet 8(7):e1002745. https:\/\/doi.org\/10.1371\/journal.pgen.1002745","journal-title":"PLoS Genet"},{"issue":"4","key":"885_CR63","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1038\/bonekey.2015.36","volume":"13","author":"F Gori","year":"2015","unstructured":"Gori F, Lerner U, Ohlsson C, Baron R (2015) A new WNT on the bone: WNT16, cortical bone thickness, porosity and fractures. Bonekey Rep 13(4):669. https:\/\/doi.org\/10.1038\/bonekey.2015.36","journal-title":"Bonekey Rep"},{"issue":"7","key":"885_CR64","doi-asserted-by":"publisher","first-page":"e1002718","DOI":"10.1371\/journal.pgen.1002718","volume":"8","author":"C Medina-Gomez","year":"2012","unstructured":"Medina-Gomez C, Kemp JP, Estrada K, Eriksson J, Liu J, Reppe S, Evans DM, Heppe DH, Vandenput L, Herrera L, Ring SM, Kruithof CJ, Timpson NJ, Zillikens MC, Olstad OK, Zheng HF, Richards JB, St Pourcain B, Hofman A, Jaddoe VW, Smith GD, Lorentzon M, Gautvik KM, Uitterlinden AG, Brommage R, Ohlsson C, Tobias JH, Rivadeneira F (2012) Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus. PLoS Genet. 8(7):e1002718. https:\/\/doi.org\/10.1371\/journal.pgen.1002718","journal-title":"PLoS Genet."},{"issue":"4","key":"885_CR65","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1016\/j.ajhg.2013.02.010","volume":"92","author":"K Keupp","year":"2013","unstructured":"Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Gr\u00fcnhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparr\u00f3s-Mart\u00edn JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Sch\u00f6nau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B (2013) Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet 92(4):565\u201374. https:\/\/doi.org\/10.1016\/j.ajhg.2013.02.010","journal-title":"Am J Hum Genet"},{"issue":"4","key":"885_CR66","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1016\/j.ajhg.2013.02.009","volume":"92","author":"SM Pyott","year":"2013","unstructured":"Pyott SM, Tran TT, Leistritz DF, Pepin MG, Mendelsohn NJ, Temme RT, Fernandez BA, Elsayed SM, Elsobky E, Verma I, Nair S, Turner EH, Smith JD, Jarvik GP, Byers PH (2013) WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet 92(4):590\u2013597. https:\/\/doi.org\/10.1016\/j.ajhg.2013.02.009","journal-title":"Am J Hum Genet"},{"issue":"6","key":"885_CR67","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1002\/ajmg.a.61119","volume":"179","author":"S Nampoothiri","year":"2019","unstructured":"Nampoothiri S, Guillemyn B, Elcioglu N, Jagadeesh S, Yesodharan D, Suresh B, Turan S, Symoens S, Malfait F (2019) Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta. Am J Med Genet A 179(6):908\u2013914. https:\/\/doi.org\/10.1002\/ajmg.a.61119","journal-title":"Am J Med Genet A"},{"issue":"8","key":"885_CR68","doi-asserted-by":"publisher","first-page":"103954","DOI":"10.1016\/j.ejmg.2020.103954","volume":"63","author":"A Hayat","year":"2020","unstructured":"Hayat A, Hussain S, Bilal M, Kausar M, Almuzzaini B, Abbas S, Tanveer A, Khan A, Siddiqi S, Foo JN, Ahmad F, Khan F, Khan B, Anees M, M\u00e4kitie O, Alfadhel M, Ahmad W, Umair M (2020) Biallelic variants in four genes underlying recessive osteogenesis imperfecta. Eur J Med Genet. 63(8):103954. https:\/\/doi.org\/10.1016\/j.ejmg.2020.103954","journal-title":"Eur J Med Genet."},{"issue":"1","key":"885_CR69","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1186\/s12929-018-0481-x","volume":"25","author":"M Kausar","year":"2018","unstructured":"Kausar M, Siddiqi S, Yaqoob M, Mansoor S, Makitie O, Mir A, Khor CC, Foo JN, Anees M (2018) Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta. J Biomed Sci 25(1):82. https:\/\/doi.org\/10.1186\/s12929-018-0481-x (Erratum in: J Biomed Sci. 2019 Apr 28;26(1):31)","journal-title":"J Biomed Sci"},{"issue":"5","key":"885_CR70","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1038\/pr.2017.149","volume":"82","author":"M Umair","year":"2017","unstructured":"Umair M, Alhaddad B, Rafique A, Jan A, Haack TB, Graf E, Ullah A, Ahmad F, Strom TM, Meitinger T, Ahmad W (2017) Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3. Pediatr Res 82(5):753\u2013758. https:\/\/doi.org\/10.1038\/pr.2017.149","journal-title":"Pediatr Res"},{"key":"885_CR71","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.bone.2017.04.001","volume":"101","author":"RE M\u00e4kitie","year":"2017","unstructured":"M\u00e4kitie RE, Niinim\u00e4ki T, Nieminen MT, Schalin-J\u00e4ntti C, Niinim\u00e4ki J, M\u00e4kitie O (2017) Impaired WNT signaling and the spine-Heterozygous WNT1 mutation causes severe age-related spinal pathology. Bone 101:3\u20139. https:\/\/doi.org\/10.1016\/j.bone.2017.04.001","journal-title":"Bone"},{"issue":"7","key":"885_CR72","doi-asserted-by":"publisher","first-page":"2340","DOI":"10.1210\/jc.2017-00099","volume":"102","author":"K Wesseling-Perry","year":"2017","unstructured":"Wesseling-Perry K, M\u00e4kitie RE, V\u00e4lim\u00e4ki VV, Laine T, Laine CM, V\u00e4lim\u00e4ki MJ, Pereira RC, M\u00e4kitie O (2017) Osteocyte protein expression is altered in low-turnover osteoporosis caused by mutations in WNT1 and PLS3. J Clin Endocrinol Metab 102(7):2340\u20132348. https:\/\/doi.org\/10.1210\/jc.2017-00099","journal-title":"J Clin Endocrinol Metab"},{"key":"885_CR73","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2021.115900","volume":"146","author":"N Fratzl-Zelman","year":"2021","unstructured":"Fratzl-Zelman N, Wesseling-Perry K, M\u00e4kitie RE, Blouin S, Hartmann MA, Zwerina J, V\u00e4lim\u00e4ki VV, Laine CM, V\u00e4lim\u00e4ki MJ, Pereira RC, M\u00e4kitie O (2021) Bone material properties and response to teriparatide in osteoporosis due to WNT1 and PLS3 mutations. Bone 146:115900. https:\/\/doi.org\/10.1016\/j.bone.2021.115900","journal-title":"Bone"},{"issue":"2","key":"885_CR74","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1210\/jc.2016-2423","volume":"102","author":"VV V\u00e4lim\u00e4ki","year":"2017","unstructured":"V\u00e4lim\u00e4ki VV, M\u00e4kitie O, Pereira R, Laine C, Wesseling-Perry K, M\u00e4\u00e4tt\u00e4 J, Kirjavainen M, Viljakainen H, V\u00e4lim\u00e4ki MJ (2017) Teriparatide treatment in patients with WNT1 or PLS3 mutation-related early-onset osteoporosis: a pilot study. J Clin Endocrinol Metab 102(2):535\u2013544. https:\/\/doi.org\/10.1210\/jc.2016-2423","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"885_CR75","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1007\/s00198-017-4309-4","volume":"29","author":"RE M\u00e4kitie","year":"2018","unstructured":"M\u00e4kitie RE, Niinim\u00e4ki R, Kakko S, Honkanen T, Kovanen PE, M\u00e4kitie O (2018) Defective WNT signaling associates with bone marrow fibrosis-a cross-sectional cohort study in a family with WNT1 osteoporosis. Osteoporos Int 29(2):479\u2013487. https:\/\/doi.org\/10.1007\/s00198-017-4309-4","journal-title":"Osteoporos Int"},{"issue":"5","key":"885_CR76","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1002\/jbmr.3959","volume":"35","author":"RE M\u00e4kitie","year":"2020","unstructured":"M\u00e4kitie RE, K\u00e4mpe A, Costantini A, Alm JJ, Magnusson P, M\u00e4kitie O (2020) Biomarkers in WNT1 and PLS3 osteoporosis: altered concentrations of DKK1 and FGF23. J Bone Miner Res 35(5):901\u2013912. https:\/\/doi.org\/10.1002\/jbmr.3959","journal-title":"J Bone Miner Res"},{"issue":"15","key":"885_CR77","doi-asserted-by":"publisher","first-page":"4035","DOI":"10.1093\/hmg\/ddu117","volume":"23","author":"KS Joeng","year":"2014","unstructured":"Joeng KS, Lee YC, Jiang MM, Bertin TK, Chen Y, Abraham AM, Ding H, Bi X, Ambrose CG, Lee BH (2014) The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations. Hum Mol Genet 23(15):4035\u201342. https:\/\/doi.org\/10.1093\/hmg\/ddu117","journal-title":"Hum Mol Genet"},{"issue":"7","key":"885_CR78","doi-asserted-by":"publisher","first-page":"2678","DOI":"10.1172\/JCI92617","volume":"127","author":"KS Joeng","year":"2017","unstructured":"Joeng KS, Lee YC, Lim J, Chen Y, Jiang MM, Munivez E, Ambrose C, Lee BH (2017) Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis. J Clin Invest 127(7):2678\u20132688","journal-title":"J Clin Invest"},{"issue":"11","key":"885_CR79","doi-asserted-by":"publisher","first-page":"1636","DOI":"10.1016\/j.joca.2019.07.001","volume":"27","author":"S Lehtovirta","year":"2019","unstructured":"Lehtovirta S, M\u00e4kitie RE, Casula V, Haapea M, Niinim\u00e4ki J, Niinim\u00e4ki T, Peuna A, Lammentausta E, M\u00e4kitie O, Nieminen MT (2019) Defective WNT signaling may protect from articular cartilage deterioration\u2014a quantitative MRI study on subjects with a heterozygous WNT1 mutation. Osteoarthritis Cartilage 27(11):1636\u20131646. https:\/\/doi.org\/10.1016\/j.joca.2019.07.001","journal-title":"Osteoarthritis Cartilage"},{"issue":"16","key":"885_CR80","doi-asserted-by":"publisher","first-page":"1529","DOI":"10.1056\/NEJMoa1308223","volume":"369","author":"FS van Dijk","year":"2013","unstructured":"van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G (2013) PLS3 mutations in X-linked osteoporosis with fractures. N Engl J Med 369(16):1529\u20131536. https:\/\/doi.org\/10.1056\/NEJMoa1308223","journal-title":"N Engl J Med"},{"issue":"3","key":"885_CR81","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1002\/jbmr.2355","volume":"30","author":"CM Laine","year":"2015","unstructured":"Laine CM, Wessman M, Toiviainen-Salo S, Kaunisto MA, M\u00e4yr\u00e4np\u00e4\u00e4 MK, Laine T, Pekkinen M, Kr\u00f6ger H, V\u00e4lim\u00e4ki VV, V\u00e4lim\u00e4ki MJ, Lehesjoki AE, M\u00e4kitie O (2015) A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis. J Bone Miner Res 30(3):510\u2013518. https:\/\/doi.org\/10.1002\/jbmr.2355","journal-title":"J Bone Miner Res"},{"issue":"10","key":"885_CR82","doi-asserted-by":"publisher","first-page":"3023","DOI":"10.1007\/s00198-017-4150-9","volume":"28","author":"AJ K\u00e4mpe","year":"2017","unstructured":"K\u00e4mpe AJ, Costantini A, M\u00e4kitie RE, J\u00e4ntti N, Valta H, M\u00e4yr\u00e4np\u00e4\u00e4 M, Kr\u00f6ger H, Pekkinen M, Taylan F, Jiao H, M\u00e4kitie O (2017) PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants. Osteoporos Int 28(10):3023\u20133032. https:\/\/doi.org\/10.1007\/s00198-017-4150-9","journal-title":"Osteoporos Int"},{"issue":"12","key":"885_CR83","doi-asserted-by":"publisher","first-page":"2394","DOI":"10.1002\/jbmr.3233","volume":"32","author":"AJ K\u00e4mpe","year":"2017","unstructured":"K\u00e4mpe AJ, Costantini A, Levy-Shraga Y, Zeitlin L, Roschger P, Taylan F, Lindstrand A, Paschalis EP, Gamsjaeger S, Raas-Rothschild A, H\u00f6vel M, Jiao H, Klaushofer K, Grasemann C, M\u00e4kitie O (2017) PLS3 deletions lead to severe spinal osteoporosis and disturbed bone matrix mineralization. J Bone Miner Res 32(12):2394\u20132404. https:\/\/doi.org\/10.1002\/jbmr.3233","journal-title":"J Bone Miner Res"},{"issue":"8","key":"885_CR84","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1038\/s10038-018-0472-5","volume":"63","author":"A Costantini","year":"2018","unstructured":"Costantini A, Krallis P\u039d, K\u00e4mpe A, Karavitakis EM, Taylan F, M\u00e4kitie O, Doulgeraki A (2018) A novel frameshift deletion in PLS3 causing severe primary osteoporosis. J Hum Genet 63(8):923\u2013926. https:\/\/doi.org\/10.1038\/s10038-018-0472-5","journal-title":"J Hum Genet"},{"issue":"9","key":"885_CR85","doi-asserted-by":"publisher","first-page":"380","DOI":"10.3389\/fendo.2018.00380","volume":"10","author":"A Costantini","year":"2018","unstructured":"Costantini A, Skarp S, K\u00e4mpe A, M\u00e4kitie RE, Pettersson M, M\u00e4nnikk\u00f6 M, Jiao H, Taylan F, Lindstrand A, M\u00e4kitie O (2018) Rare copy number variants in array-based comparative genomic hybridization in early-onset skeletal fragility. Front Endocrinol (Lausanne) 10(9):380. https:\/\/doi.org\/10.3389\/fendo.2018.00380","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"7","key":"885_CR86","doi-asserted-by":"publisher","first-page":"1578","DOI":"10.1002\/ajmg.a.38830","volume":"176","author":"M Balasubramanian","year":"2018","unstructured":"Balasubramanian M, Fratzl-Zelman N, O\u2019Sullivan R, Bull M, Fa Peel N, Pollitt RC, Jones R, Milne E, Smith K, Roschger P, Klaushofer K, Bishop NJ (2018) Novel PLS3 variants in X-linked osteoporosis: exploring bone material properties. Am J Med Genet A 176(7):1578\u20131586. https:\/\/doi.org\/10.1002\/ajmg.a.38830","journal-title":"Am J Med Genet A"},{"issue":"1","key":"885_CR87","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1111\/cge.13081","volume":"93","author":"L Wang","year":"2018","unstructured":"Wang L, Zhai Q, Zhao P, Xiang X, Zhang X, Tian W, Li T (2018) Functional analysis of p.Ala253_Leu254insAsn mutation in PLS3 responsible for X-linked osteoporosis. Clin Genet. 93(1):178\u2013181. https:\/\/doi.org\/10.1111\/cge.13081","journal-title":"Clin Genet."},{"issue":"9","key":"885_CR88","doi-asserted-by":"publisher","first-page":"2691","DOI":"10.1007\/s00198-017-4094-0","volume":"28","author":"F Lv","year":"2017","unstructured":"Lv F, Ma M, Liu W, Xu X, Song Y, Li L, Jiang Y, Wang O, Xia W, Xing X, Qiu Z, Li M (2017) A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid. Osteoporos Int 28(9):2691\u20132700. https:\/\/doi.org\/10.1007\/s00198-017-4094-0","journal-title":"Osteoporos Int"},{"issue":"3\u20134","key":"885_CR89","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1159\/000477242","volume":"88","author":"P Kannu","year":"2017","unstructured":"Kannu P, Mahjoub A, Babul-Hirji R, Carter MT, Harrington J (2017) PLS3 mutations in X-linked osteoporosis: clinical and bone characteristics of two novel mutations. Horm Res Paediatr 88(3\u20134):298\u2013304. https:\/\/doi.org\/10.1159\/000477242","journal-title":"Horm Res Paediatr"},{"key":"885_CR90","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/j.bone.2016.07.022","volume":"91","author":"DM van de Laarschot","year":"2016","unstructured":"van de Laarschot DM, Zillikens MC (2016) Atypical femur fracture in an adolescent boy treated with bisphosphonates for X-linked osteoporosis based on PLS3 mutation. Bone 91:148\u2013151. https:\/\/doi.org\/10.1016\/j.bone.2016.07.022","journal-title":"Bone"},{"issue":"1","key":"885_CR91","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/jbm4.10024","volume":"2","author":"HH Nguyen","year":"2018","unstructured":"Nguyen HH, van de Laarschot DM, Verkerk AJMH, Milat F, Zillikens MC, Ebeling PR (2018) Genetic risk factors for atypical femoral fractures (AFFs): a systematic review. JBMR Plus 2(1):1\u201311. https:\/\/doi.org\/10.1002\/jbm4.10024","journal-title":"JBMR Plus"},{"issue":"11","key":"885_CR92","doi-asserted-by":"publisher","first-page":"393","DOI":"10.3389\/fendo.2020.00393","volume":"23","author":"RE M\u00e4kitie","year":"2020","unstructured":"M\u00e4kitie RE, Niinim\u00e4ki T, Suo-Palosaari M, K\u00e4mpe A, Costantini A, Toiviainen-Salo S, Niinim\u00e4ki J, M\u00e4kitie O (2020) PLS3 mutations cause severe age and sex-related spinal pathology. Front Endocrinol (Lausanne) 23(11):393. https:\/\/doi.org\/10.3389\/fendo.2020.00393","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"10","key":"885_CR93","doi-asserted-by":"publisher","first-page":"1555","DOI":"10.1359\/jbmr.1998.13.10.1555","volume":"13","author":"K Tanaka-Kamioka","year":"1998","unstructured":"Tanaka-Kamioka K, Kamioka H, Ris H, Lim SS (1998) Osteocyte shape is dependent on actin filaments and osteocyte processes are unique actin-rich projections. J Bone Miner Res 13(10):1555\u20131568. https:\/\/doi.org\/10.1359\/jbmr.1998.13.10.1555","journal-title":"J Bone Miner Res"},{"issue":"7","key":"885_CR94","doi-asserted-by":"publisher","first-page":"1123","DOI":"10.1016\/j.jprot.2011.04.005","volume":"74","author":"C Thouverey","year":"2011","unstructured":"Thouverey C, Malinowska A, Balcerzak M, Strzelecka-Kiliszek A, Buchet R, Dadlez M, Pikula S (2011) Proteomic characterization of biogenesis and functions of matrix vesicles released from mineralizing human osteoblast-like cells. J Proteomics 74(7):1123\u20131134. https:\/\/doi.org\/10.1016\/j.jprot.2011.04.005","journal-title":"J Proteomics"},{"issue":"10","key":"885_CR95","doi-asserted-by":"publisher","first-page":"1962","DOI":"10.1002\/jbmr.4097","volume":"35","author":"RE M\u00e4kitie","year":"2020","unstructured":"M\u00e4kitie RE, Hackl M, Weigl M, Frischer A, K\u00e4mpe A, Costantini A, Grillari J, M\u00e4kitie O (2020) Unique, gender-dependent serum microrna profile in PLS3 gene-related osteoporosis. J Bone Miner Res 35(10):1962\u20131973. https:\/\/doi.org\/10.1002\/jbmr.4097","journal-title":"J Bone Miner Res"},{"key":"885_CR96","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2019.115062","volume":"130","author":"TA Yorgan","year":"2020","unstructured":"Yorgan TA, Sari H, Rolvien T, Windhorst S, Failla AV, Kornak U, Oheim R, Amling M, Schinke T (2020) Mice lacking plastin-3 display a specific defect of cortical bone acquisition. Bone 130:115062. https:\/\/doi.org\/10.1016\/j.bone.2019.115062","journal-title":"Bone"},{"issue":"1","key":"885_CR97","doi-asserted-by":"publisher","first-page":"121","DOI":"10.2214\/ajr.121.1.121","volume":"121","author":"PM Royen","year":"1974","unstructured":"Royen PM, Ozonoff MB (1974) Multiple calvarial \u201cdoughnut lesions.\u201d Am J Roentgenol Radium Ther Nucl Med 121(1):121\u2013123. https:\/\/doi.org\/10.2214\/ajr.121.1.121","journal-title":"Am J Roentgenol Radium Ther Nucl Med"},{"issue":"7","key":"885_CR98","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.126180","volume":"4","author":"M Pekkinen","year":"2019","unstructured":"Pekkinen M, Terhal PA, Botto LD, Henning P, M\u00e4kitie RE, Roschger P, Jain A, Kol M, Kjellberg MA, Paschalis EP, van Gassen K, Murray M, Bayrak-Toydemir P, Magnusson MK, Jans J, Kausar M, Carey JC, Somerharju P, Lerner UH, Olkkonen VM, Klaushofer K, Holthuis JC, M\u00e4kitie O (2019) Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. JCI Insight 4(7):e126180. https:\/\/doi.org\/10.1172\/jci.insight.126180","journal-title":"JCI Insight"},{"key":"885_CR99","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2020.115261","volume":"134","author":"ME Robinson","year":"2020","unstructured":"Robinson ME, Bardai G, Veilleux LN, Glorieux FH, Rauch F (2020) Musculoskeletal phenotype in two unrelated individuals with a recurrent nonsense variant in SGMS2. Bone 134:115261. https:\/\/doi.org\/10.1016\/j.bone.2020.115261","journal-title":"Bone"},{"issue":"5","key":"885_CR100","doi-asserted-by":"publisher","first-page":"875","DOI":"10.1002\/jbmr.3956","volume":"35","author":"D Manousaki","year":"2020","unstructured":"Manousaki D, K\u00e4mpe A, Forgetta V, Makitie RE, Bardai G, Belisle A, Li R, Andersson S, Makitie O, Rauch F, Richards JB (2020) Increased burden of common risk alleles in children with a significant fracture history. J Bone Miner Res 35(5):875\u2013882. https:\/\/doi.org\/10.1002\/jbmr.3956","journal-title":"J Bone Miner Res"},{"issue":"12","key":"885_CR101","doi-asserted-by":"publisher","first-page":"bvaa148","DOI":"10.1210\/jendso\/bvaa148","volume":"4","author":"MGM Rocha-Braz","year":"2020","unstructured":"Rocha-Braz MGM, Fran\u00e7a MM, Fernandes AM, Lerario AM, Zanardo EA, de Santana LS, Kulikowski LD, Martin RM, Mendonca BB, Ferraz-de-Souza B (2020) Comprehensive genetic analysis of 128 candidate genes in a cohort with idiopathic, severe, or familial osteoporosis. J Endocr Soc 4(12):bvaa148. https:\/\/doi.org\/10.1210\/jendso\/bvaa148","journal-title":"J Endocr Soc"},{"issue":"6","key":"885_CR102","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1007\/s10067-006-0405-0","volume":"26","author":"P Peris","year":"2007","unstructured":"Peris P, Monegal A, Martinez MA, Moll C, Pons F, Guanabens N (2007) Bone mineral density evolution in young premenopausal women with idiopathic osteoporosis. Clin Rheumatol 26(6):958\u2013961","journal-title":"Clin Rheumatol"},{"issue":"2","key":"885_CR103","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1017\/S0007114510000437","volume":"104","author":"MZ Islam","year":"2010","unstructured":"Islam MZ, Shamim AA, Viljakainen HT, Akhtaruzzaman M, Jehan AH, Khan HU et al (2010) Effect of vitamin D, calcium and multiple micronutrient supplementation on vitamin D and bone status in Bangladeshi premenopausal garment factory workers with hypovitaminosis D: a double-blinded, randomised, placebo-controlled 1-year intervention. Br J Nutr 104(2):241\u2013247","journal-title":"Br J Nutr"},{"issue":"9","key":"885_CR104","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1016\/S1470-2045(08)70204-3","volume":"9","author":"M Gnant","year":"2008","unstructured":"Gnant M, Mlineritsch B, Luschin-Ebengreuth G, Kainberger F, Kassmann H, Piswanger-Solkner JC et al (2008) Adjuvant endocrine therapy plus zoledronic acid in premenopausal women with early-stage breast cancer: 5-year follow-up of the ABCSG-12 bone-mineral density substudy. Lancet Oncol 9(9):840\u2013849","journal-title":"Lancet Oncol"},{"issue":"9","key":"885_CR105","doi-asserted-by":"publisher","first-page":"2257","DOI":"10.1007\/s00198-012-1958-1","volume":"23","author":"S Lekamwasam","year":"2012","unstructured":"Lekamwasam S, Adachi JD, Agnusdei D, Bilezikian J, Boonen S, Borgstr\u00f6m F, Cooper C, Diez Perez A, Eastell R, Hofbauer LC, Kanis JA, Langdahl BL, Lesnyak O, Lorenc R, McCloskey E, Messina OD, Napoli N, Obermayer-Pietsch B, Ralston SH, Sambrook PN, Silverman S, Sosa M, Stepan J, Suppan G, Wahl DA, Compston JE, Joint IOF-ECTS GIO Guidelines Working Group (2012) A framework for the development of guidelines for the management of glucocorticoid-induced osteoporosis. Osteoporos Int 23(9):2257\u20132276. https:\/\/doi.org\/10.1007\/s00198-012-1958-1","journal-title":"Osteoporos Int"},{"issue":"11","key":"885_CR106","doi-asserted-by":"publisher","first-page":"3135","DOI":"10.1007\/s00198-017-4165-2","volume":"28","author":"M Laroche","year":"2017","unstructured":"Laroche M, Talibart M, Cormier C, Roux C, Guggenbuhl P, Degboe Y (2017) Pregnancy-related fractures: a retrospective study of a French cohort of 52 patients and review of the literature. Osteoporos Int 28(11):3135\u20133142","journal-title":"Osteoporos Int"},{"issue":"5","key":"885_CR107","doi-asserted-by":"publisher","first-page":"652","DOI":"10.1111\/cen.13557","volume":"88","author":"N Hong","year":"2018","unstructured":"Hong N, Kim JE, Lee SJ, Kim SH, Rhee Y (2018) Changes in bone mineral density and bone turnover markers during treatment with teriparatide in pregnancy- and lactation-associated osteoporosis. Clin Endocrinol (Oxf) 88(5):652\u2013658","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"1","key":"885_CR108","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1007\/s00198-018-4672-9","volume":"30","author":"A Sokal","year":"2019","unstructured":"Sokal A, Elefant E, Leturcq T, Beghin D, Mariette X, Seror R (2019) Pregnancy and newborn outcomes after exposure to bisphosphonates: a casecontrol study. Osteoporos Int 30(1):221\u2013229","journal-title":"Osteoporos Int"},{"issue":"4","key":"885_CR109","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1097\/BOR.0000000000000400","volume":"29","author":"BL Langdahl","year":"2017","unstructured":"Langdahl BL (2017) Osteoporosis in premenopausal women. Curr Opin Rheumatol 29(4):410\u2013415","journal-title":"Curr Opin Rheumatol"},{"key":"885_CR110","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa756","author":"E Tsourdi","year":"2020","unstructured":"Tsourdi E, Zillikens MC, Meier C, Body JJ, Gonzalez Rodriguez E, Anastasilakis AD, Abrahamsen B, McCloskey E, Hofbauer LC, Gua\u00f1abens N, Obermayer-Pietsch B, Ralston SH, Eastell R, Pepe J, Palermo A, Langdahl B (2020) Fracture risk and management of discontinuation of denosumab therapy: a systematic review and position statement by ECTS. J Clin Endocrinol Metab. https:\/\/doi.org\/10.1210\/clinem\/dgaa756","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Calcified Tissue International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-021-00885-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00223-021-00885-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-021-00885-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,17]],"date-time":"2022-04-17T09:04:39Z","timestamp":1650186279000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00223-021-00885-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,8]]},"references-count":110,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["885"],"URL":"https:\/\/doi.org\/10.1007\/s00223-021-00885-6","relation":{},"ISSN":["1432-0827"],"issn-type":[{"value":"1432-0827","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,8]]},"assertion":[{"value":"20 April 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 June 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 July 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Outi M\u00e4kitie declares consultancy to Kyowa Kirin, Alexion, Merck and Sandoz. M. Carola Zillikens declares having received honoraria in the past for lectures or advice from Alexion, Amgen, Eli Lilly, Kyowa Kirin, Shire and UCB.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}