{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:24:02Z","timestamp":1791973442596,"version":"4.4.0"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T00:00:00Z","timestamp":1634860800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T00:00:00Z","timestamp":1634860800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"unconditional grant by Ultragenyx Europe GmbH"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme \u03b2-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence is estimated to vary from 0.02 to 0.24 per 100,000 live births. The clinical course and disease progression are widely heterogeneous, but most patients have been reported to show signs such as skeletal deformities or cognitive delay. Additionally, detection criteria are not standardized, resulting in delayed diagnosis and treatment.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We present a cohort of 9 patients with mucopolysaccharidosis VII diagnosed in the Iberian Peninsula, either in Spain or Portugal. The diagnostic approach, genetic studies, clinical features, evolution and treatment interventions were reviewed.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>We found that skeletal deformities, hip dysplasia, hydrops fetalis, hepatosplenomegaly, hernias, coarse features, respiratory issues, and cognitive and growth delay were the most common features identified in the cohort. In general, patients with early diagnostic confirmation who received the appropriate treatment in a timely manner presented a more favorable clinical evolution.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This case series report helps to improve understanding of this ultra-rare disease and allows to establish criteria for clinical suspicion or diagnosis, recommendations, and future directions for better management of patients with Sly syndrome.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-021-02063-1","type":"journal-article","created":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T11:03:42Z","timestamp":1634900622000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort"],"prefix":"10.1186","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1774-6266","authenticated-orcid":false,"given":"Antonio","family":"G\u00f3nzalez-Meneses","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merc\u00e8","family":"Pineda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anabela","family":"Bandeira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patr\u00edcia","family":"Janeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda \u00c1ngeles","family":"Ruiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Diogo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ram\u00f3n","family":"Cancho-Candela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,10,22]]},"reference":[{"issue":"9","key":"2063_CR1","doi-asserted-by":"publisher","first-page":"983","DOI":"10.1038\/gim.2017.10","volume":"19","author":"M Zielonka","year":"2017","unstructured":"Zielonka M, et al. Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis. Genet Med. 2017;19(9):983\u20138.","journal-title":"Genet Med"},{"issue":"3","key":"2063_CR2","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/j.ymgme.2017.05.016","volume":"121","author":"SA Khan","year":"2017","unstructured":"Khan SA, et al. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017;121(3):227\u201340.","journal-title":"Mol Genet Metab"},{"issue":"6","key":"2063_CR3","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1136\/jmedgenet-2015-103322","volume":"53","author":"AM Montano","year":"2016","unstructured":"Montano AM, et al. Clinical course of sly syndrome (mucopolysaccharidosis type VII). J Med Genet. 2016;53(6):403\u201318.","journal-title":"J Med Genet"},{"issue":"1","key":"2063_CR4","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1186\/s13023-019-1233-z","volume":"14","author":"A Morrison","year":"2019","unstructured":"Morrison A, et al. Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII\u2014a European caregiver survey. Orphanet J Rare Dis. 2019;14(1):254.","journal-title":"Orphanet J Rare Dis"},{"key":"2063_CR5","unstructured":"Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras (FEDER) La asociaci\u00f3n de pacientes MPS Espa\u00f1a presenta el \"Proyecto Find\". 2014."},{"issue":"Suppl 5","key":"2063_CR6","doi-asserted-by":"publisher","first-page":"v41","DOI":"10.1093\/rheumatology\/ker390","volume":"50","author":"TJ Lehman","year":"2011","unstructured":"Lehman TJ, et al. Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(Suppl 5):v41\u20138.","journal-title":"Rheumatology (Oxford)"},{"issue":"2","key":"2063_CR7","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1016\/j.ymgme.2014.10.017","volume":"114","author":"JE Fox","year":"2015","unstructured":"Fox JE, et al. First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient. Mol Genet Metab. 2015;114(2):203\u20138.","journal-title":"Mol Genet Metab"},{"issue":"2","key":"2063_CR8","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1007\/s40259-019-00344-7","volume":"33","author":"EH McCafferty","year":"2019","unstructured":"McCafferty EH, Scott LJ. Vestronidase Alfa: a review in Mucopolysaccharidosis VII. BioDrugs. 2019;33(2):233\u201340.","journal-title":"BioDrugs"},{"issue":"5","key":"2063_CR9","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1007\/s40262-018-0721-y","volume":"58","author":"Y Qi","year":"2019","unstructured":"Qi Y, et al. Pharmacokinetic and pharmacodynamic modeling to optimize the dose of Vestronidase Alfa, an enzyme replacement therapy for treatment of patients with Mucopolysaccharidosis type VII: results from three trials. Clin Pharmacokinet. 2019;58(5):673\u201383.","journal-title":"Clin Pharmacokinet"},{"issue":"21","key":"2063_CR10","doi-asserted-by":"publisher","first-page":"5345","DOI":"10.3390\/ijms20215345","volume":"20","author":"P Dubot","year":"2019","unstructured":"Dubot P, et al. First report of a patient with MPS type VII, due to novel mutations in GUSB, who underwent enzyme replacement and then hematopoietic stem cell transplantation. Int J Mol Sci. 2019;20(21):5345.","journal-title":"Int J Mol Sci"},{"issue":"7","key":"2063_CR11","doi-asserted-by":"publisher","first-page":"e13278","DOI":"10.1111\/petr.13278","volume":"22","author":"L Sisinni","year":"2018","unstructured":"Sisinni L, et al. Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: a case report. Pediatr Transplant. 2018;22(7):e13278.","journal-title":"Pediatr Transplant"},{"issue":"5 Suppl","key":"2063_CR12","doi-asserted-by":"publisher","first-page":"S27","DOI":"10.1016\/j.jpeds.2004.01.052","volume":"144","author":"J Muenzer","year":"2004","unstructured":"Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004;144(5 Suppl):S27-34.","journal-title":"J Pediatr"},{"issue":"6","key":"2063_CR13","doi-asserted-by":"publisher","first-page":"660","DOI":"10.1177\/0310057X1604400612","volume":"44","author":"HA Hack","year":"2016","unstructured":"Hack HA, Walker R, Gardiner P. Anaesthetic implications of the changing management of patients with mucopolysaccharidosis. 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Orphanet J Rare Dis. 2021;16(1):238.","journal-title":"Orphanet J Rare Dis"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-021-02063-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-021-02063-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-021-02063-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T11:18:43Z","timestamp":1634901523000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-021-02063-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,22]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["2063"],"URL":"https:\/\/doi.org\/10.1186\/s13023-021-02063-1","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,22]]},"assertion":[{"value":"14 May 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 September 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 October 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All procedures followed were in accordance with the ethical standards of the Helsinki Declaration.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from all the subjects included in the study or their guardians. In the case of deceased patients, families were informed, and provided their consent for the publication of this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Antonio Gonz\u00e1lez-Meneses has participated in clinical trials supported by Ultragenyx and has received honoraria for advisory services and conferences. Luisa Diogo, Mar\u00eda \u00c1ngeles Ruiz, Ram\u00f3n Cancho-Candela, Patricia Janeiro, Mercedes Pineda and Anabela Bandeira have no conflict of interest to report.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"445"}}