{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T20:17:54Z","timestamp":1790021874908,"version":"4.0.1"},"reference-count":32,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,7,22]],"date-time":"2020-07-22T00:00:00Z","timestamp":1595376000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["Ga354\/14\u20101"],"award-info":[{"award-number":["Ga354\/14\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010570","name":"Nieders\u00e4chsisches Ministerium f\u00fcr Wissenschaft und Kultur","doi-asserted-by":"publisher","award":["ZN2938"],"award-info":[{"award-number":["ZN2938"]}],"id":[{"id":"10.13039\/501100010570","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Multiple Sulfatase Deficiency (MSD, MIM#272200) is an ultra\u2010rare lysosomal storage disorder arising from mutations in the\n                    <jats:italic>SUMF1<\/jats:italic>\n                    gene, which encodes the formylglycine\u2010generating enzyme (FGE). FGE is necessary for the activation of sulfatases, a family of enzymes that are involved in the degradation of sulfated substrates such as glycosaminoglycans and sulfolipids.\n                    <jats:italic>SUMF1<\/jats:italic>\n                    mutations lead to functionally impaired FGE and individuals with MSD demonstrate clinical signs of single sulfatase deficiencies, including metachromatic leukodystrophy (MLD) and several mucopolysaccharidosis (MPS) subtypes. Comprehensive information related to the natural history of MSD is missing. We completed a systematic literature review and a meta\u2010analysis on data from published cases reporting on MSD. As available from these reports, we extracted clinical, genetic, biochemical, and brain imaging information. We identified 75 publications with data on 143 MSD patients with a total of 53 unique\n                    <jats:italic>SUMF1<\/jats:italic>\n                    mutations. The mean survival was 13\u2009years (95% CI 9.8\u201016.2\u2009years). Seventy\u2010five clinical signs and 11 key clusters of signs were identified. The most frequently affected organs systems were the nervous, skeletal, and integumentary systems. The most frequent MRI features were abnormal myelination and cerebral atrophy. Individuals with later onset MSD signs and survived longer than those with signs at birth. Less severe mutations, low disease burden and achievement of independent walking positively correlated with longer survival. Despite the limitations of our approach, we were able to define clinical characteristics and disease outcomes in MSD. This work will provide the foundation of natural disease history data needed for future clinical trial design.\n                  <\/jats:p>","DOI":"10.1002\/jimd.12282","type":"journal-article","created":{"date-parts":[[2020,7,4]],"date-time":"2020-07-04T07:08:27Z","timestamp":1593846507000},"page":"1288-1297","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["A systematic review and meta\u2010analysis of published cases reveals the natural disease history in multiple sulfatase deficiency"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7415-4905","authenticated-orcid":false,"given":"Lars","family":"Schlotawa","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana","family":"Preiskorn","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8243-7123","authenticated-orcid":false,"given":"Rebecca","family":"Ahrens\u2010Nicklas","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stina","family":"Schiller","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8454-1116","authenticated-orcid":false,"given":"Laura A.","family":"Adang","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4108-7109","authenticated-orcid":false,"given":"Jutta","family":"G\u00e4rtner","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5347-7441","authenticated-orcid":false,"given":"Tim","family":"Friede","sequence":"additional","affiliation":[{"name":"Department of Medical Statistics University Medical Center G\u00f6ttingen  G\u00f6ttingen 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