{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T07:34:08Z","timestamp":1780472048317,"version":"3.54.1"},"reference-count":35,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,7,19]],"date-time":"2023-07-19T00:00:00Z","timestamp":1689724800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011272","name":"FP7 Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004963","name":"Seventh Framework Programme","doi-asserted-by":"publisher","award":["602300"],"award-info":[{"award-number":["602300"]}],"id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Bone"],"published-print":{"date-parts":[[2023,10]]},"DOI":"10.1016\/j.bone.2023.116838","type":"journal-article","created":{"date-parts":[[2023,7,16]],"date-time":"2023-07-16T21:21:20Z","timestamp":1689542480000},"page":"116838","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["Identification of potential non-invasive biomarkers in diastrophic dysplasia"],"prefix":"10.1016","volume":"175","author":[{"given":"Chiara","family":"Paganini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricki S.","family":"Carroll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Gramegna Tota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea J.","family":"Schelhaas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Leone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela L.","family":"Duker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"O'Connell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan F.","family":"Coghlan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Johnstone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos R.","family":"Ferreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Peressini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Albertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Forlino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Bonaf\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Belinda","family":"Campos-Xavier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Superti-Furga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Zankl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael B.","family":"Bober","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2023.116838_bb0005","series-title":"GeneReviews","first-page":"1993","article-title":"Diastrophic dysplasia","author":"Unger","year":"2004"},{"issue":"6","key":"10.1016\/j.bone.2023.116838_bb0010","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1038\/sj.ejhg.5200361","article-title":"Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)","volume":"7","author":"Hastbacka","year":"1999","journal-title":"Eur. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.bone.2023.116838_bb0015","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1016\/0092-8674(94)90281-X","article-title":"The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping","volume":"78","author":"H\u00e4stbacka","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.bone.2023.116838_bb0020","series-title":"Molecular and Developmental Biology of Cartilage","first-page":"195","article-title":"A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans","author":"Superti-Furga","year":"1996"},{"issue":"5","key":"10.1016\/j.bone.2023.116838_bb0025","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/S0945-053X(98)90088-9","article-title":"Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production","volume":"17","author":"Rossi","year":"1998","journal-title":"Matrix Biol."},{"issue":"1","key":"10.1016\/j.bone.2023.116838_bb0030","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1097\/00005792-197201000-00003","article-title":"Diastrophic dwarfism","volume":"51","author":"Walker","year":"1972","journal-title":"Medicine (Baltimore)"},{"issue":"3","key":"10.1016\/j.bone.2023.116838_bb0035","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1302\/0301-620X.74B3.1587898","article-title":"Foot deformities in diastrophic dysplasia. An analysis of 102 patients","volume":"74","author":"Ryoppy","year":"1992","journal-title":"J. Bone Joint Surg. (Br.)"},{"issue":"2","key":"10.1016\/j.bone.2023.116838_bb0040","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1302\/0301-620X.80B2.0800315","article-title":"Development of the hip in diastrophic dysplasia","volume":"80","author":"Vaara","year":"1998","journal-title":"J. Bone Joint Surg. (Br.)"},{"issue":"5","key":"10.1016\/j.bone.2023.116838_bb0045","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1097\/01241398-200409000-00016","article-title":"Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis","volume":"24","author":"Remes","year":"2004","journal-title":"J. Pediatr. Orthop."},{"issue":"3","key":"10.1016\/j.bone.2023.116838_bb0050","doi-asserted-by":"crossref","first-page":"308","DOI":"10.2340\/16501977-1116","article-title":"Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland","volume":"45","author":"Kruger","year":"2013","journal-title":"J. Rehabil. Med."},{"issue":"4","key":"10.1016\/j.bone.2023.116838_bb0055","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1111\/os.12146","article-title":"Corrections of lower limb deformities in patients with diastrophic dysplasia","volume":"6","author":"Al Kaissi","year":"2014","journal-title":"Orthop. Surg."},{"issue":"2","key":"10.1016\/j.bone.2023.116838_bb0060","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1177\/2192568221994786","article-title":"Complications and revisions after spine surgery in patients with skeletal dysplasia: have we improved?","volume":"13","author":"Shafi","year":"2021","journal-title":"Glob. Spine J."},{"issue":"19","key":"10.1016\/j.bone.2023.116838_bb0065","doi-asserted-by":"crossref","first-page":"5570","DOI":"10.1093\/hmg\/ddv289","article-title":"N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia","volume":"24","author":"Monti","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bone.2023.116838_bb0070","doi-asserted-by":"crossref","DOI":"10.1016\/j.bcp.2021.114452","article-title":"Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine","volume":"185","author":"Paganini","year":"2021","journal-title":"Biochem. Pharmacol."},{"issue":"12","key":"10.1016\/j.bone.2023.116838_bb0075","doi-asserted-by":"crossref","first-page":"3631","DOI":"10.1016\/j.xphs.2017.08.004","article-title":"Polyethylene glycol-poly-lactide-co-glycolide block copolymer-based nanoparticles as a potential tool for off-label use of N-acetylcysteine in the treatment of diastrophic dysplasia","volume":"106","author":"Chiesa","year":"2017","journal-title":"J. Pharm. Sci."},{"key":"10.1016\/j.bone.2023.116838_bb0080","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1016\/j.ebiom.2019.01.010","article-title":"Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias","volume":"40","author":"Zheng","year":"2019","journal-title":"EBioMedicine"},{"issue":"1","key":"10.1016\/j.bone.2023.116838_bb0085","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.ymgme.2020.02.006","article-title":"Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses","volume":"130","author":"Kakkis","year":"2020","journal-title":"Mol. Genet. Metab."},{"issue":"5","key":"10.1016\/j.bone.2023.116838_bb0090","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1093\/hmg\/ddaa006","article-title":"Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes","volume":"29","author":"Hendrickx","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bone.2023.116838_bb0095","doi-asserted-by":"crossref","DOI":"10.3389\/fonc.2016.00253","article-title":"Prognostic value of plasma and urine glycosaminoglycan scores in clear cell renal cell carcinoma","volume":"6","author":"Gatto","year":"2016","journal-title":"Front. Oncol."},{"issue":"3","key":"10.1016\/j.bone.2023.116838_bb0100","doi-asserted-by":"crossref","first-page":"173","DOI":"10.3109\/00365599609181295","article-title":"Urinary glycosaminoglycan excretion in bladder carcinoma","volume":"30","author":"Atahan","year":"1996","journal-title":"Scand. J. Urol. Nephrol."},{"issue":"6","key":"10.1016\/j.bone.2023.116838_bb0105","doi-asserted-by":"crossref","first-page":"7959","DOI":"10.3390\/molecules19067959","article-title":"FACE analysis as a fast and reliable methodology to monitor the sulfation and total amount of chondroitin sulfate in biological samples of clinical importance","volume":"19","author":"Karousou","year":"2014","journal-title":"Molecules"},{"issue":"1","key":"10.1016\/j.bone.2023.116838_bb0110","doi-asserted-by":"crossref","DOI":"10.1210\/clinem\/dgaa721","article-title":"Norms for clinical use of CXM, a real-time marker of height velocity","volume":"106","author":"Coghlan","year":"2021","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"1","key":"10.1016\/j.bone.2023.116838_bb0115","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1007\/s00223-022-00966-0","article-title":"Collagen X marker levels are decreased in individuals with achondroplasia","volume":"111","author":"Carroll","year":"2022","journal-title":"Calcif. Tissue Int."},{"key":"10.1016\/j.bone.2023.116838_bb0120","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2021.115990","article-title":"Alterations of a serum marker of collagen X in growing children with osteogenesis imperfecta","volume":"149","author":"Nicol","year":"2021","journal-title":"Bone"},{"issue":"10","key":"10.1016\/j.bone.2023.116838_bb0125","doi-asserted-by":"crossref","first-page":"3711","DOI":"10.1093\/brain\/awac110","article-title":"Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy","volume":"145","author":"Guasto","year":"2022","journal-title":"Brain"},{"issue":"17","key":"10.1016\/j.bone.2023.116838_bb0130","doi-asserted-by":"crossref","DOI":"10.3390\/ijms22179304","article-title":"Phenotypic characterization of immortalized chondrocytes from a desbuquois dysplasia type 1 mouse model: a tool for studying defects in glycosaminoglycan biosynthesis","volume":"22","author":"Gramegna Tota","year":"2021","journal-title":"Int. J. Mol. Sci."},{"issue":"419","key":"10.1016\/j.bone.2023.116838_bb0135","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aan4669","article-title":"A degradation fragment of type X collagen is a real-time marker for bone growth velocity","volume":"9","author":"Coghlan","year":"2017","journal-title":"Sci. Transl. Med."},{"issue":"4","key":"10.1016\/j.bone.2023.116838_bb0140","first-page":"316","article-title":"Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia","volume":"136","author":"Horton","year":"1982","journal-title":"Am. J. Dis. Child."},{"issue":"12","key":"10.1016\/j.bone.2023.116838_bb0145","doi-asserted-by":"crossref","first-page":"2186","DOI":"10.1002\/jbmr.3563","article-title":"The lysosomal protein arylsulfatase B is a key enzyme involved in skeletal turnover","volume":"33","author":"Pohl","year":"2018","journal-title":"J. Bone Miner. Res."},{"issue":"6","key":"10.1016\/j.bone.2023.116838_bb0150","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1093\/hmg\/ddi079","article-title":"A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype","volume":"14","author":"Forlino","year":"2005","journal-title":"Hum. Mol. Genet."},{"issue":"6","key":"10.1016\/j.bone.2023.116838_bb0155","doi-asserted-by":"crossref","first-page":"2104","DOI":"10.1210\/jc.2013-4455","article-title":"Age-based reference ranges for annual height velocity in US children","volume":"99","author":"Kelly","year":"2014","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"1","key":"10.1016\/j.bone.2023.116838_bb0160","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1002\/jor.24776","article-title":"A quantitative serum biomarker of circulating collagen X effectively correlates with endochondral fracture healing","volume":"39","author":"Working","year":"2021","journal-title":"J. Orthop. Res."},{"issue":"2","key":"10.1016\/j.bone.2023.116838_bb0165","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s40262-021-01059-1","article-title":"Pharmacokinetics and exposure-response of vosoritide in children with achondroplasia","volume":"61","author":"Chan","year":"2022","journal-title":"Clin. Pharmacokinet."},{"issue":"6","key":"10.1016\/j.bone.2023.116838_bb0170","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1097\/01241398-200311000-00008","article-title":"Early degeneration of the knee in diastrophic dysplasia: an MRI study","volume":"23","author":"Peltonen","year":"2003","journal-title":"J. Pediatr. Orthop."},{"issue":"6","key":"10.1016\/j.bone.2023.116838_bb0175","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.matbio.2010.05.001","article-title":"Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling","volume":"29","author":"Gualeni","year":"2010","journal-title":"Matrix Biol."}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328223001710?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328223001710?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,5]],"date-time":"2024-12-05T02:10:07Z","timestamp":1733364607000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328223001710"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10]]},"references-count":35,"alternative-id":["S8756328223001710"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2023.116838","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2023,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of potential non-invasive biomarkers in diastrophic dysplasia","name":"articletitle","label":"Article Title"},{"value":"Bone","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bone.2023.116838","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"116838"}}