{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T13:04:35Z","timestamp":1694783075367},"reference-count":43,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T00:00:00Z","timestamp":1616976000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T00:00:00Z","timestamp":1616976000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Internist"],"published-print":{"date-parts":[[2021,5]]},"DOI":"10.1007\/s00108-021-00995-1","type":"journal-article","created":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T09:02:48Z","timestamp":1617008568000},"page":"486-495","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Seltene osteologische Erkrankungen und ihre Therapie"],"prefix":"10.1007","volume":"62","author":[{"given":"Lothar","family":"Seefried","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franz","family":"Jakob","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,3,29]]},"reference":[{"issue":"12","key":"995_CR1","doi-asserted-by":"publisher","first-page":"2393","DOI":"10.1002\/ajmg.a.61366","volume":"179","author":"GR Mortier","year":"2019","unstructured":"Mortier\u00a0GR et\u00a0al (2019) Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet\u00a0A 179(12):2393\u20132419","journal-title":"Am J Med Genet A"},{"issue":"4","key":"995_CR2","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1590\/2359-3997000000178","volume":"60","author":"MG Rocha-Braz","year":"2016","unstructured":"Rocha-Braz\u00a0MG, Ferraz-de-Souza\u00a0B (2016) Genetics of osteoporosis: searching for candidate genes for bone fragility. Arch Endocrinol Metab 60(4):391\u2013401","journal-title":"Arch Endocrinol Metab"},{"issue":"3","key":"995_CR3","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1007\/s12020-016-0888-7","volume":"52","author":"NM Appelman-Dijkstra","year":"2016","unstructured":"Appelman-Dijkstra\u00a0NM, Papapoulos\u00a0SE (2016) From disease to treatment: from rare skeletal disorders to treatments for osteoporosis. Endocrine 52(3):414\u2013426","journal-title":"Endocrine"},{"issue":"2","key":"995_CR4","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1038\/s41431-020-00732-6","volume":"29","author":"E Mornet","year":"2021","unstructured":"Mornet\u00a0E et al (2021) Hypophosphatasia: a\u00a0genetic-based nosology and new insights in genotype-phenotype correlation. Eur J Hum Genet 29(2):289\u2013299. https:\/\/doi.org\/10.1038\/s41431-020-00732-6","journal-title":"Eur J Hum Genet"},{"key":"995_CR5","doi-asserted-by":"publisher","first-page":"115262","DOI":"10.1016\/j.bone.2020.115262","volume":"133","author":"L Bessueille","year":"2020","unstructured":"Bessueille\u00a0L et al (2020) Tissue-nonspecific alkaline phosphatase is an anti-inflammatory nucleotidase. Bone 133:115262","journal-title":"Bone"},{"issue":"12","key":"995_CR6","doi-asserted-by":"publisher","first-page":"1648","DOI":"10.3390\/biom10121648","volume":"10","author":"D Liedtke","year":"2020","unstructured":"Liedtke\u00a0D et al (2020) Tissue-nonspecific alkaline phosphatase\u2011A gatekeeper of physiological conditions in health and a\u00a0modulator of biological environments in disease. Biomolecules 10(12):1648. https:\/\/doi.org\/10.3390\/biom10121648","journal-title":"Biomolecules"},{"issue":"8","key":"995_CR7","doi-asserted-by":"publisher","first-page":"dgaa324","DOI":"10.1210\/clinem\/dgaa324","volume":"105","author":"K Kuehn","year":"2020","unstructured":"Kuehn\u00a0K, Hahn\u00a0A, Seefried\u00a0L (2020) Mineral intake and clinical symptoms in adult patients with hypophosphatasia. J\u00a0Clin Endocrinol Metab 105(8):dgaa324. https:\/\/doi.org\/10.1210\/clinem\/dgaa324","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"995_CR8","doi-asserted-by":"publisher","first-page":"2171","DOI":"10.1002\/jbmr.4130","volume":"35","author":"L Seefried","year":"2020","unstructured":"Seefried\u00a0L et\u00a0al (2020) Burden of illness in adults with hypophosphatasia: data from the global hypophosphatasia patient registry. J\u00a0Bone Miner Res 35(11):2171\u20132178. https:\/\/doi.org\/10.1002\/jbmr.4130","journal-title":"J Bone Miner Res"},{"issue":"3","key":"995_CR9","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1016\/j.jocd.2018.12.006","volume":"23","author":"E Lefever","year":"2020","unstructured":"Lefever\u00a0E et\u00a0al (2020) Hypophosphatasia in adults: clinical spectrum and its association with genetics and metabolic substrates. J\u00a0Clin Densitom 23(3):340\u2013348","journal-title":"J Clin Densitom"},{"issue":"2","key":"995_CR10","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1007\/s00198-018-4691-6","volume":"30","author":"JM Colazo","year":"2019","unstructured":"Colazo\u00a0JM et\u00a0al (2019) Neurological symptoms in hypophosphatasia. Osteoporos Int 30(2):469\u2013480","journal-title":"Osteoporos Int"},{"issue":"2","key":"995_CR11","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1007\/s00198-020-05612-9","volume":"32","author":"F Genest","year":"2021","unstructured":"Genest\u00a0F et\u00a0al (2021) Bone mineral density and fracture risk in adult patients with hypophosphatasia. Osteoporos Int 32(2):377\u2013385. https:\/\/doi.org\/10.1007\/s00198-020-05612-9","journal-title":"Osteoporos Int"},{"issue":"1\u20132","key":"995_CR12","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.ymgme.2017.07.010","volume":"122","author":"PS Kishnani","year":"2017","unstructured":"Kishnani\u00a0PS et\u00a0al (2017) Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Mol Genet Metab 122(1\u20132):4\u201317","journal-title":"Mol Genet Metab"},{"issue":"1","key":"995_CR13","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1210\/jc.2015-3462","volume":"101","author":"MP Whyte","year":"2016","unstructured":"Whyte\u00a0MP et\u00a0al (2016) Asfotase alfa treatment improves survival for perinatal and infantile hypophosphatasia. J\u00a0Clin Endocrinol Metab 101(1):334\u2013342","journal-title":"J Clin Endocrinol Metab"},{"key":"995_CR14","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1016\/j.bone.2018.12.011","volume":"121","author":"PS Kishnani","year":"2019","unstructured":"Kishnani\u00a0PS et al (2019) Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia. Bone 121:149\u2013162","journal-title":"Bone"},{"issue":"9","key":"995_CR15","doi-asserted-by":"publisher","first-page":"e10395","DOI":"10.1002\/jbm4.10395","volume":"4","author":"F Genest","year":"2020","unstructured":"Genest\u00a0F et al (2020) Physical function and health-related quality of life in adults treated with asfotase alfa for pediatric-onset hypophosphatasia. JBMR Plus 4(9):e10395","journal-title":"JBMR Plus"},{"key":"995_CR16","doi-asserted-by":"publisher","first-page":"115664","DOI":"10.1016\/j.bone.2020.115664","volume":"142","author":"L Seefried","year":"2021","unstructured":"Seefried\u00a0L et al (2021) Pharmacodynamics of asfotase alfa in adults with pediatric-onset hypophosphatasia. Bone 142:115664","journal-title":"Bone"},{"issue":"8","key":"995_CR17","doi-asserted-by":"publisher","first-page":"941","DOI":"10.4158\/EP15890.OR","volume":"22","author":"PM Camacho","year":"2016","unstructured":"Camacho\u00a0PM et\u00a0al (2016) Adult hypophosphatasia treated with teriparatide: report of two patients and review of the literature. Endocr Pract 22(8):941\u2013950. https:\/\/doi.org\/10.4158\/EP15890.OR","journal-title":"Endocr Pract"},{"issue":"6","key":"995_CR18","doi-asserted-by":"publisher","first-page":"2148","DOI":"10.1172\/JCI83731","volume":"127","author":"L Seefried","year":"2017","unstructured":"Seefried\u00a0L et al (2017) Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia. J\u00a0Clin Invest 127(6):2148\u20132158","journal-title":"J Clin Invest"},{"issue":"4","key":"995_CR19","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1007\/s11560-019-0344-9","volume":"14","author":"RG Erben","year":"2019","unstructured":"Erben\u00a0RG (2019) Physiologie und Pathophysiologie von FGF23 und\u00a0Klotho. Nephrologe 14(4):302\u2013304","journal-title":"Nephrologe"},{"issue":"1","key":"995_CR20","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1186\/s13023-019-1014-8","volume":"14","author":"SS Beck-Nielsen","year":"2019","unstructured":"Beck-Nielsen\u00a0SS et al (2019) FGF23 and its role in X\u2011linked hypophosphatemia-related morbidity. Orphanet J Rare Dis 14(1):58","journal-title":"Orphanet J Rare Dis"},{"key":"995_CR21","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-020-05548-0","author":"L Seefried","year":"2020","unstructured":"Seefried\u00a0L et al (2020) Burden of disease associated with X\u2011linked hypophosphataemia in adults: a\u00a0systematic literature review. Osteoporos Int. https:\/\/doi.org\/10.1007\/s00198-020-05548-0","journal-title":"Osteoporos Int"},{"issue":"7","key":"995_CR22","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1038\/s41581-019-0152-5","volume":"15","author":"D Haffner","year":"2019","unstructured":"Haffner\u00a0D et al (2019) Clinical practice recommendations for the diagnosis and management of X\u2011linked hypophosphataemia. Nat Rev Nephrol 15(7):435\u2013455","journal-title":"Nat Rev Nephrol"},{"issue":"5","key":"995_CR23","doi-asserted-by":"publisher","first-page":"R83","DOI":"10.1530\/EJE-19-0969","volume":"182","author":"LF de Castro","year":"2020","unstructured":"de Castro\u00a0LF, Ovejero\u00a0D, Boyce\u00a0AM (2020) Diagnosis of endocrine disease: mosaic disorders of FGF23 excess: fibrous dysplasia\/McCune-Albright syndrome and cutaneous skeletal hypophosphatemia syndrome. Eur J Endocrinol 182(5):R83\u2013r99","journal-title":"Eur J Endocrinol"},{"issue":"21","key":"995_CR24","doi-asserted-by":"publisher","first-page":"1987","DOI":"10.1056\/NEJMoa1714641","volume":"378","author":"TO Carpenter","year":"2018","unstructured":"Carpenter\u00a0TO et al (2018) Burosumab therapy in children with X\u2011linked hypophosphatemia. N\u00a0Engl J Med 378(21):1987\u20131998","journal-title":"N Engl J Med"},{"issue":"3","key":"995_CR25","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1007\/s00223-019-00568-3","volume":"105","author":"AA Portale","year":"2019","unstructured":"Portale\u00a0AA et al (2019) Continued beneficial effects of burosumab in adults with X\u2011linked hypophosphatemia: results from a\u00a024-week treatment continuation period after a\u00a024-week double-blind placebo-controlled period. Calcif Tissue Int 105(3):271\u2013284","journal-title":"Calcif Tissue Int"},{"issue":"12","key":"995_CR26","doi-asserted-by":"publisher","first-page":"3607","DOI":"10.1007\/s00198-016-3709-1","volume":"27","author":"G Bardai","year":"2016","unstructured":"Bardai\u00a0G et\u00a0al (2016) DNA sequence analysis in 598 individuals with a\u00a0clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. Osteoporos Int 27(12):3607\u20133613","journal-title":"Osteoporos Int"},{"issue":"1","key":"995_CR27","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1186\/s40348-020-00101-9","volume":"7","author":"J Etich","year":"2020","unstructured":"Etich\u00a0J et al (2020) Osteogenesis imperfecta-pathophysiology and therapeutic options. Mol Cell Pediatr 7(1):9\u20139","journal-title":"Mol Cell Pediatr"},{"issue":"10028","key":"995_CR28","doi-asserted-by":"publisher","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","volume":"387","author":"A Forlino","year":"2016","unstructured":"Forlino\u00a0A, Marini\u00a0JC (2016) Osteogenesis imperfecta. Lancet 387(10028):1657\u20131671","journal-title":"Lancet"},{"key":"995_CR29","doi-asserted-by":"publisher","DOI":"10.1530\/eje-20-0299","author":"R Marom","year":"2020","unstructured":"Marom\u00a0R, Rabenhorst\u00a0BM, Morello\u00a0R (2020) Management of endocrine disease: osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. https:\/\/doi.org\/10.1530\/eje-20-0299","journal-title":"Eur J Endocrinol"},{"key":"995_CR30","doi-asserted-by":"publisher","first-page":"70","DOI":"10.3389\/fendo.2019.00070","volume":"10","author":"RE M\u00e4kitie","year":"2019","unstructured":"M\u00e4kitie\u00a0RE et\u00a0al (2019) New insights into monogenic causes of osteoporosis. Front Endocrinol (Lausanne) 10:70","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"14","key":"995_CR31","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1056\/NEJM199810013391402","volume":"339","author":"FH Glorieux","year":"1998","unstructured":"Glorieux\u00a0FH et\u00a0al (1998) Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N\u00a0Engl J Med 339(14):947\u2013952","journal-title":"N Engl J Med"},{"issue":"04","key":"995_CR32","first-page":"302","volume":"29","author":"O Semler","year":"2020","unstructured":"Semler\u00a0O et\u00a0al (2020) Genetische Ursachen und Therapie der Osteogenesis imperfecta. Osteologie 29(04):302\u2013310","journal-title":"Osteologie"},{"issue":"8","key":"995_CR33","doi-asserted-by":"publisher","first-page":"e10174","DOI":"10.1002\/jbm4.10174","volume":"3","author":"JT Tauer","year":"2019","unstructured":"Tauer\u00a0JT, Robinson\u00a0ME, Rauch\u00a0F (2019) Osteogenesis imperfecta: new perspectives from clinical and translational research. JBMR Plus 3(8):e10174","journal-title":"JBMR Plus"},{"key":"995_CR34","doi-asserted-by":"publisher","first-page":"204201882090401","DOI":"10.1177\/2042018820904016","volume":"11","author":"P Marzin","year":"2020","unstructured":"Marzin\u00a0P, Cormier-Daire\u00a0V (2020) New perspectives on the treatment of skeletal dysplasia. Ther Adv Endocrinol Metab 11:2042018820904016","journal-title":"Ther Adv Endocrinol Metab"},{"issue":"1","key":"995_CR35","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1159\/000446958","volume":"86","author":"M Miccoli","year":"2016","unstructured":"Miccoli\u00a0M, Bertelloni\u00a0S, Massart\u00a0F (2016) Height outcome of recombinant human growth hormone treatment in achondroplasia children: a meta-analysis. Horm Res Paediatr 86(1):27\u201334","journal-title":"Horm Res Paediatr"},{"issue":"2","key":"995_CR36","doi-asserted-by":"publisher","first-page":"226","DOI":"10.4055\/cios.2019.11.2.226","volume":"11","author":"KR Ko","year":"2019","unstructured":"Ko\u00a0KR et\u00a0al (2019) Surgical results of limb lengthening at the femur, tibia, and humerus in patients with achondroplasia. Clin Orthop Surg 11(2):226\u2013232","journal-title":"Clin Orthop Surg"},{"issue":"10252","key":"995_CR37","doi-asserted-by":"publisher","first-page":"684","DOI":"10.1016\/S0140-6736(20)31541-5","volume":"396","author":"R Savarirayan","year":"2020","unstructured":"Savarirayan\u00a0R et al (2020) Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a\u00a0randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet 396(10252):684\u2013692","journal-title":"Lancet"},{"issue":"3","key":"995_CR38","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1124\/jpet.119.258251","volume":"370","author":"VM Breinholt","year":"2019","unstructured":"Breinholt\u00a0VM et al (2019) TransCon CNP, a\u00a0sustained-release C\u2011type natriuretic peptide prodrug, a\u00a0potentially safe and efficacious new therapeutic modality for the treatment of comorbidities associated with fibroblast growth factor receptor 3\u2011related skeletal dysplasias. J\u00a0Pharmacol Exp Ther 370(3):459\u2013471","journal-title":"J Pharmacol Exp Ther"},{"key":"995_CR39","doi-asserted-by":"publisher","first-page":"115539","DOI":"10.1016\/j.bone.2020.115539","volume":"140","author":"FS Kaplan","year":"2020","unstructured":"Kaplan\u00a0FS et\u00a0al (2020) Fibrodysplasia ossificans progressiva (FOP): a disorder of osteochondrogenesis. Bone 140:115539","journal-title":"Bone"},{"issue":"4","key":"995_CR40","doi-asserted-by":"publisher","first-page":"1517","DOI":"10.3390\/ijms21041517","volume":"21","author":"K Sawamoto","year":"2020","unstructured":"Sawamoto\u00a0K et\u00a0al (2020) Mucopolysaccharidosis IVA: diagnosis, treatment, and management. Int J Mol Sci 21(4):1517. https:\/\/doi.org\/10.3390\/ijms21041517","journal-title":"Int J Mol Sci"},{"issue":"1","key":"995_CR41","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1186\/s13023-019-1074-9","volume":"14","author":"MU Akyol","year":"2019","unstructured":"Akyol\u00a0MU et al (2019) Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis 14(1):137","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"995_CR42","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/j.ymgme.2017.11.015","volume":"123","author":"CJ Hendriksz","year":"2018","unstructured":"Hendriksz\u00a0CJ et al (2018) Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study. Mol Genet Metab 123(2):127\u2013134","journal-title":"Mol Genet Metab"},{"key":"995_CR43","doi-asserted-by":"publisher","first-page":"891596","DOI":"10.1155\/2013\/891596","volume":"2013","author":"A Tummolo","year":"2013","unstructured":"Tummolo\u00a0A et\u00a0al (2013) Bisphosphonate treatment in a\u00a0patient affected by MPS IVA with osteoporotic phenotype. Case Rep Med 2013:891596","journal-title":"Case Rep Med"}],"container-title":["Der Internist"],"original-title":[],"language":"de","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00108-021-00995-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00108-021-00995-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00108-021-00995-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,27]],"date-time":"2021-04-27T14:05:14Z","timestamp":1619532314000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00108-021-00995-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,29]]},"references-count":43,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["995"],"URL":"https:\/\/doi.org\/10.1007\/s00108-021-00995-1","relation":{},"ISSN":["0020-9554","1432-1289"],"issn-type":[{"value":"0020-9554","type":"print"},{"value":"1432-1289","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,29]]},"assertion":[{"value":"16 February 2021","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 March 2021","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Einhaltung ethischer Richtlinien"}},{"value":"L.\u00a0Seefried erhielt Vortrags-\/Beratungshonorare von den Firmen Alexion, Amgen, Chiesi, Kyowa Kirin, Lilly, MSD, Theramex, Novartis und UCB sowie F\u00f6rderung f\u00fcr Forschungsprojekte von Alexion, Kyowa Kirin und Novartis. F.\u00a0Jakob erhielt Vortrags-\/Beratungshonorare von den Firmen Alexion, Amgen, Gedeon Richter, Kyowa Kirin, Lilly and UCB  sowie F\u00f6rderung f\u00fcr Forschungsprojekte von Alexion und Novartis.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"F\u00fcr diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgef\u00fchrt. F\u00fcr die aufgef\u00fchrten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}}]}}