{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T21:35:15Z","timestamp":1792791315941,"version":"4.5.0"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,2,23]]},"DOI":"10.1515\/cclm-2021-0966","type":"journal-article","created":{"date-parts":[[2021,12,16]],"date-time":"2021-12-16T11:28:21Z","timestamp":1639654101000},"page":"85-87","source":"Crossref","is-referenced-by-count":1,"title":["A fortuitous but characteristic blood smear observation allowing a late diagnosis of MPS-VII"],"prefix":"10.1515","volume":"60","author":[{"given":"Cedrick W.","family":"Goudji","sequence":"first","affiliation":[{"name":"Hematology Unit, Department of Clinical Biology , CHU Charleroi , Lodelinsart , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Schick","sequence":"additional","affiliation":[{"name":"General Surgery Department , CHU Charleroi , Lodelinsart , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Cherkaoui","sequence":"additional","affiliation":[{"name":"Hematology Unit, Department of Clinical Biology , CHU Charleroi , Lodelinsart , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Camaiani","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry , Laboratoire Hospitalier Universitaire de Bruxelles (LHUB-ULB), Universit\u00e9 Libre de Bruxelles (ULB) , Brussels , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7223-2706","authenticated-orcid":false,"given":"Joseph P.","family":"Dewulf","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine , University Hospital St. Luc, UCLouvain , Bruxelles , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Cecile","family":"Nassogne","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, Universit\u00e9 Catholique de Louvain , Brussels , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Chevalier","sequence":"additional","affiliation":[{"name":"Hematology Unit, Department of Clinical Biology , CHU Charleroi , Lodelinsart , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2021,12,17]]},"reference":[{"key":"2022022617414412090_j_cclm-2021-0966_ref_001","doi-asserted-by":"crossref","unstructured":"Sly, WS, Quinton, BA, McAlister, WH, Rimoin, DL. Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J Pediatr 1973;82:249\u201357. https:\/\/doi.org\/10.1016\/s0022-3476(73)80162-3.","DOI":"10.1016\/S0022-3476(73)80162-3"},{"key":"2022022617414412090_j_cclm-2021-0966_ref_002","doi-asserted-by":"crossref","unstructured":"Wolfberg, J, Chintalapati, K, Tomatsu, S, Nagao, K. Hearing loss in mucopolysaccharidoses: current knowledge and future directions. Diagnostics (Basel) 2020;10:554. https:\/\/doi.org\/10.3390\/diagnostics10080554.","DOI":"10.3390\/diagnostics10080554"},{"key":"2022022617414412090_j_cclm-2021-0966_ref_003","doi-asserted-by":"crossref","unstructured":"Maier-Redelsperger, M, Fenneteau, O. Aspects cytologiques des maladies de surcharge lysosomale. Rev Fr Lab 1998;1998:31\u20135. https:\/\/doi.org\/10.1016\/s0338-9898(98)80064-4.","DOI":"10.1016\/S0338-9898(98)80064-4"},{"key":"2022022617414412090_j_cclm-2021-0966_ref_004","doi-asserted-by":"crossref","unstructured":"Tomatsu, S, Monta\u00f1o, AM, Dung, VC, Grubb, JH, Sly, WS. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat 2009;30:511\u20139. https:\/\/doi.org\/10.1002\/humu.20828.","DOI":"10.1002\/humu.20828"},{"key":"2022022617414412090_j_cclm-2021-0966_ref_005","doi-asserted-by":"crossref","unstructured":"Pfeiffer, RA, Kresse, H, B\u00e4umer, N, Sattinger, E. Beta-glucuronidase deficiency in a girl with unusual clinical features. Eur J Pediatr 1977;126:155\u201361. https:\/\/doi.org\/10.1007\/bf00442197.","DOI":"10.1007\/BF00442197"},{"key":"2022022617414412090_j_cclm-2021-0966_ref_006","doi-asserted-by":"crossref","unstructured":"Guffon, N, Froissart, R, Fouilhoux, A. A rare late progression form of Sly syndrome mucopolysaccharidosis. JIMD Rep 2019;49:1\u20136. https:\/\/doi.org\/10.1002\/jmd2.12039.","DOI":"10.1002\/jmd2.12039"},{"key":"2022022617414412090_j_cclm-2021-0966_ref_007","doi-asserted-by":"crossref","unstructured":"Zielonka, M, Garbade, SF, K\u00f6lker, S, Hoffmann, GF, Ries, M. Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis. Genet Med 2017 Sep;19:983\u20138 [Epub 2017 Apr 6]. Erratum in: Genet Med. 2018 Apr;20(4):474. https:\/\/doi.org\/10.1038\/gim.2017.10.","DOI":"10.1038\/gim.2017.87"},{"key":"2022022617414412090_j_cclm-2021-0966_ref_008","doi-asserted-by":"crossref","unstructured":"Jain, R, Khurana, U, Bhan, BD, Goel, G, Kapoor, N. Mucopolysaccharidosis: a case report highlighting hematological aspects of the disease. J Lab Phys 2019;11:97\u20139. https:\/\/doi.org\/10.4103\/JLP.JLP_126_18.","DOI":"10.4103\/JLP.JLP_126_18"},{"key":"2022022617414412090_j_cclm-2021-0966_ref_009","doi-asserted-by":"crossref","unstructured":"McCafferty, EH, Scott, LJ. Vestronidase alfa: a review in mucopolysaccharidosis VII. BioDrugs 2019;33:233\u201340. Erratum in: BioDrugs. 2019 Apr 16. https:\/\/doi.org\/10.1007\/s40259-019-00344-7.","DOI":"10.1007\/s40259-019-00344-7"},{"key":"2022022617414412090_j_cclm-2021-0966_ref_010","doi-asserted-by":"crossref","unstructured":"Piva, E, Pelloso, M, Ciubotaru, D, Penello, L, Burlina, A, Plebani, M. The role of automated analyzers in detecting abnormal granulation of leucocytes in lysosomal storage diseases: Maroteaux\u2013Lamy disease. Am J Hematol 2013;88:527. https:\/\/doi.org\/10.1002\/ajh.23377.","DOI":"10.1002\/ajh.23377"}],"container-title":["Clinical Chemistry and Laboratory Medicine (CCLM)"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2021-0966\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2021-0966\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,26]],"date-time":"2022-02-26T17:45:59Z","timestamp":1645897559000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2021-0966\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,17]]},"references-count":10,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,1,26]]},"published-print":{"date-parts":[[2022,2,23]]}},"alternative-id":["10.1515\/cclm-2021-0966"],"URL":"https:\/\/doi.org\/10.1515\/cclm-2021-0966","relation":{},"ISSN":["1434-6621","1437-4331"],"issn-type":[{"value":"1434-6621","type":"print"},{"value":"1437-4331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,17]]}}}