{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T07:02:05Z","timestamp":1773990125783,"version":"3.50.1"},"reference-count":15,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,12,14]],"date-time":"2020-12-14T00:00:00Z","timestamp":1607904000000},"content-version":"vor","delay-in-days":104,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["aaceclinicalcasereports.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["AACE Clinical Case Reports"],"published-print":{"date-parts":[[2020,9]]},"DOI":"10.4158\/accr-2020-0169","type":"journal-article","created":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T19:41:51Z","timestamp":1592941311000},"page":"e257-e261","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Pyknodysostosis (Osteopetrosis Acro-Osteolytica)"],"prefix":"10.1016","volume":"6","author":[{"given":"Gregory S.","family":"Schmidt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John P.","family":"Schacht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Treyce S.","family":"Knee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed K.M.","family":"Shakir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thanh D.","family":"Hoang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.4158\/ACCR-2020-0169_bb0010","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1126\/science.273.5279.1236","article-title":"Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency","volume":"273","author":"Gelb","year":"1996","journal-title":"Science"},{"key":"10.4158\/ACCR-2020-0169_bb0015","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1750-1172-6-20","article-title":"Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011","volume":"6","author":"Xue","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"10.4158\/ACCR-2020-0169_bb0020","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/s40001-016-0228-7","article-title":"Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in Brazilian Northeast region","volume":"21","author":"Araujo","year":"2016","journal-title":"Eur J Med Res"},{"key":"10.4158\/ACCR-2020-0169_bb0025","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1097\/MCD.0000000000000128","article-title":"Pycnodysostosis: mutation spectrum in five unrelated Indian children","volume":"25","author":"Mandal","year":"2016","journal-title":"Clin Dysmorphol"},{"key":"10.4158\/ACCR-2020-0169_bb0030","doi-asserted-by":"crossref","first-page":"e6367","DOI":"10.1097\/MD.0000000000006367","article-title":"A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes","volume":"96","author":"Song","year":"2017","journal-title":"Medicine (Baltimore)"},{"key":"10.4158\/ACCR-2020-0169_bb0035","first-page":"999","article-title":"Pyknodysostosis [in French]","volume":"70","author":"Maroteaux","year":"1962","journal-title":"Presse Med"},{"key":"10.4158\/ACCR-2020-0169_bb0040","first-page":"267","article-title":"Two cases of a condensing osseous disease: pynodysostosis [in French]","volume":"19","author":"Maroteaux","year":"1962","journal-title":"Arch Fr Pediatr"},{"key":"10.4158\/ACCR-2020-0169_bb0045","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1186\/1750-1172-9-60","article-title":"Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features","volume":"9","author":"Arman","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"10.4158\/ACCR-2020-0169_bb0050","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1111\/cge.13591","article-title":"Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review","volume":"96","author":"Bizaoui","year":"2019","journal-title":"Clin Genet"},{"key":"10.4158\/ACCR-2020-0169_bb0055","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1007\/s12020-016-0888-7","article-title":"From disease to treatment: from rare skeletal disorders to treatments for osteoporosis","volume":"52","author":"Appelman-Dijkstra","year":"2016","journal-title":"Endocrine"},{"key":"10.4158\/ACCR-2020-0169_bb0060","first-page":"492","article-title":"Clinical and radiographic maxillofacial features of pycnodysostosis","volume":"7","author":"Alves","year":"2014","journal-title":"Int J Clin Exp Med"},{"key":"10.4158\/ACCR-2020-0169_bb0065","doi-asserted-by":"crossref","first-page":"2839","DOI":"10.1056\/NEJMra040952","article-title":"Osteopetrosis","volume":"351","author":"Tolar","year":"2004","journal-title":"N Engl J Med"},{"key":"10.4158\/ACCR-2020-0169_bb0070","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1750-1172-4-5","article-title":"Osteopetrosis","volume":"4","author":"Stark","year":"2009","journal-title":"Orphanet J Rare Dis"},{"key":"10.4158\/ACCR-2020-0169_bb0075","doi-asserted-by":"crossref","first-page":"2029","DOI":"10.1002\/ajmg.a.36557","article-title":"Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review","volume":"164A","author":"Testani","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.4158\/ACCR-2020-0169_bb0080","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2013-200590","article-title":"Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case","volume":"2013","author":"Girbal","year":"2013","journal-title":"BMJ Case Rep"}],"container-title":["AACE Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2376060520306210?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2376060520306210?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T06:31:53Z","timestamp":1762497113000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2376060520306210"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["S2376060520306210"],"URL":"https:\/\/doi.org\/10.4158\/accr-2020-0169","relation":{},"ISSN":["2376-0605"],"issn-type":[{"value":"2376-0605","type":"print"}],"subject":[],"published":{"date-parts":[[2020,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pyknodysostosis (Osteopetrosis Acro-Osteolytica)","name":"articletitle","label":"Article Title"},{"value":"AACE Clinical Case Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.4158\/ACCR-2020-0169","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2020 Elsevier Inc.","name":"copyright","label":"Copyright"}]}}