{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:50:20Z","timestamp":1781081420147,"version":"3.54.1"},"reference-count":16,"publisher":"SAGE Publications","issue":"13","license":[{"start":{"date-parts":[[2018,8,20]],"date-time":"2018-08-20T00:00:00Z","timestamp":1534723200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a deficiency in formylglycine-generating enzyme, which is encoded by the Sulfatase Modifying Factor 1 ( SUMF1) gene. Clinically, the disorder is variable. The most common characteristics are developmental regression, intellectual disability, ichthyosis, and periventricular white matter disease. Herein, we report 6 Saudi patients with multiple sulfatase deficiency caused by a novel homozygous missense mutation in the SUMF1 gene (NM_182760.3; c.785A&gt;G [p.Gln262Arg]). The patients are 2 females and 4 males between 5 and 13 years of age, with an age of onset of 1 to 3 years. All patients are consanguineous and suffer from developmental regression, intellectual disability, ichthyosis, and periventricular white matter disease. This cohort differs from previous cohorts because of the absence of organomegaly and skeletal abnormalities.<\/jats:p>","DOI":"10.1177\/0883073818790851","type":"journal-article","created":{"date-parts":[[2018,8,20]],"date-time":"2018-08-20T06:01:25Z","timestamp":1534744885000},"page":"820-824","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":13,"title":["Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation"],"prefix":"10.1177","volume":"33","author":[{"given":"Leen","family":"Hijazi","sequence":"first","affiliation":[{"name":"King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard\u2013Health Affairs (NGHA), Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amna","family":"Kashgari","sequence":"additional","affiliation":[{"name":"King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard\u2013Health Affairs (NGHA), Riyadh, Saudi Arabia"},{"name":"Department of Medical Imaging, King Abdullah Specialized Children\u2019s Hospital, King Abdulaziz Medical City, Ministry of National Guard\u2013Health Affairs (NGHA), Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9427-7240","authenticated-orcid":false,"given":"Majid","family":"Alfadhel","sequence":"additional","affiliation":[{"name":"King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard\u2013Health Affairs (NGHA), Riyadh, Saudi Arabia"},{"name":"Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Abdullah Specialized Children\u2019s Hospital, King Abdulaziz Medical City, Ministry of National Guard\u2013Health Affairs (NGHA), Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2018,8,20]]},"reference":[{"key":"bibr1-0883073818790851","doi-asserted-by":"publisher","DOI":"10.1042\/bj0930015C"},{"key":"bibr2-0883073818790851","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20040"},{"key":"bibr3-0883073818790851","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00348-9"},{"key":"bibr4-0883073818790851","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi351"},{"key":"bibr5-0883073818790851","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0244-7"},{"key":"bibr6-0883073818790851","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.219"},{"issue":"4","key":"bibr7-0883073818790851","first-page":"418","volume":"56","author":"Nur BG","year":"2014","journal-title":"Turk J Pediatr"},{"key":"bibr8-0883073818790851","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-12213"},{"key":"bibr9-0883073818790851","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.01.005"},{"key":"bibr10-0883073818790851","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2007.10.007"},{"key":"bibr11-0883073818790851","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0871-2"},{"key":"bibr12-0883073818790851","doi-asserted-by":"publisher","DOI":"10.4103\/0972-2327.120449"},{"key":"bibr13-0883073818790851","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2008.11.015"},{"key":"bibr14-0883073818790851","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-2697(79)80012-3"},{"key":"bibr15-0883073818790851","doi-asserted-by":"publisher","DOI":"10.1007\/s00216-014-7859-8"},{"key":"bibr16-0883073818790851","doi-asserted-by":"publisher","DOI":"10.1177\/08830738920070010311"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073818790851","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073818790851","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073818790851","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:39:36Z","timestamp":1777495176000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073818790851"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,20]]},"references-count":16,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1177\/0883073818790851"],"URL":"https:\/\/doi.org\/10.1177\/0883073818790851","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,8,20]]}}}