{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:15:52Z","timestamp":1789179352079,"version":"build-2803163510"},"reference-count":10,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T00:00:00Z","timestamp":1713398400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T00:00:00Z","timestamp":1713398400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mucopolysaccharidosis type 10 is caused by biallelic variants in\n                    <jats:italic>ARSK<\/jats:italic>\n                    , which encodes for a lysosomal sulfatase. To date, seven patients with a mild phenotype resembling spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia have been described. In this report, we present two novel\n                    <jats:italic>ARSK<\/jats:italic>\n                    variants and report clinical and radiological findings of three patients. The patients' initial complaints were hip or knee pain and a waddling gait. All patients showed normal intelligence, normal hearing and eye examinations, and none had organomegaly. While typical dysostosis multiplex findings were not observed, mild platyspondyly with anterior beaking of some vertebral bodies, irregular vertebral endplates, wide ribs, inferior tapering of the ilea with a poorly developed acetabulum, irregularity of the central part of the femoral head, delayed ossification of the carpals were noted. Remarkably, all patients showed metaphyseal striation of the long bones, a crucial diagnostic clue to identify ARSK\u2010related MPS type 10. Interestingly, vertebral involvement regressed during follow\u2010up. On the other hand, hip dysplasia progressed in all patients. In conclusion, this study provides valuable long\u2010term results on a recently discovered form of MPS.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63635","type":"journal-article","created":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T08:18:30Z","timestamp":1713428310000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Further characterization of\n                    <scp>ARSK<\/scp>\n                    \u2010related mucopolysaccharidosis type 10"],"prefix":"10.1002","volume":"194","author":[{"given":"Dilek","family":"Uluda\u011f Alkaya","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics Istanbul University\u2010Cerrahpa\u015fa, Cerrahpa\u015fa Medical Faculty  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasan Emir","family":"Taner","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Istanbul University\u2010Cerrahpa\u015fa, Cerrahpa\u015fa Medical Faculty  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timur","family":"Y\u0131ld\u0131r\u0131m","sequence":"additional","affiliation":[{"name":"Department of Orthopedics and Traumatology University of Health Sciences Turkey, Baltalimani Bone Diseases Training and Research Center  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evren","family":"Akp\u0131nar","sequence":"additional","affiliation":[{"name":"Department of Orthopedics and Traumatology University of Health Sciences Turkey, Baltalimani Bone Diseases Training and Research Center  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9620-5021","authenticated-orcid":false,"given":"Beyhan","family":"T\u00fcys\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Istanbul University\u2010Cerrahpa\u015fa, Cerrahpa\u015fa Medical Faculty  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,4,18]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1021\/acschembio.6b01033"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24010477"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1042\/BCJ20200586"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2005.12.023"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62934"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gendis.2023.06.003"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1042\/BCJ20200546"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-108061"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2022.874267"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M113.499541"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63635","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63635","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63635","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T07:29:15Z","timestamp":1771399755000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63635"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,18]]},"references-count":10,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1002\/ajmg.a.63635"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63635","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,18]]},"assertion":[{"value":"2024-01-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63635"}}