{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T16:40:34Z","timestamp":1779122434208,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,8,20]],"date-time":"2019-08-20T00:00:00Z","timestamp":1566259200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["DFG Ga354\/14\u20101"],"award-info":[{"award-number":["DFG Ga354\/14\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Multiple sulfatase deficiency (MSD) is an ultra\u2010rare lysosomal storage disorder (LSD). Mutations in the <jats:italic>SUMF1<\/jats:italic> gene encoding the formylglycine generating enzyme (FGE) result in an unstable FGE protein with reduced enzymatic activity, thereby affecting the posttranslational activation of newly synthesized sulfatases. Complete absence of FGE function results in the most severe clinical form of MSD with neonatal onset and rapid deterioration. We report on a preterm infant presenting with hydrops fetalis, lung hypoplasia, and dysmorphism as major clinical signs. The patient died after 6 days from an intraventricular hemorrhage followed by multi\u2010organ failure. MSD was caused by a homozygous <jats:italic>SUMF1<\/jats:italic> stop mutation (c.191C&gt;A, p.Ser64Ter). FGE protein and sulfatase activities were absent in patient fibroblasts. Hydrops fetalis is a rare symptom of LSDs and should be considered in the differential diagnosis in combination with dysmorphism. The diagnostic set up should include measurements of glycosaminoglycan excretion and lysosomal enzyme activities, among them at least two sulfatases, and molecular confirmation.<\/jats:p>","DOI":"10.1002\/jmd2.12074","type":"journal-article","created":{"date-parts":[[2019,8,20]],"date-time":"2019-08-20T11:08:46Z","timestamp":1566299326000},"page":"48-52","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient"],"prefix":"10.1002","volume":"49","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":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Dierks","sequence":"additional","affiliation":[{"name":"Department of Chemistry, Biochemistry I Bielefeld University  Bielefeld Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Christoph","sequence":"additional","affiliation":[{"name":"Department of Child Neurology and Metabolic Disorders, Medical Centre Oldenburg University Children's Hospital Oldenburg  Oldenburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Cloppenburg","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Intensive Care Medicine and Paediatric Cardiology, Medical Centre Oldenburg University Children's Hospital Oldenburg  Oldenburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Ohlenbusch","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. Christoph","family":"Korenke","sequence":"additional","affiliation":[{"name":"Department of Child Neurology and Metabolic Disorders, Medical Centre Oldenburg University Children's Hospital Oldenburg  Oldenburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jutta","family":"G\u00e4rtner","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,8,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.01.005"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.219"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00348-9"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00347-7"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9504"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01899.x"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0871-2"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-014-0086-2"},{"key":"e_1_2_10_10_1","first-page":"418","article-title":"Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature","volume":"56","author":"Nur BG","year":"2014","journal-title":"Turk J Pediatr"},{"key":"e_1_2_10_11_1","first-page":"43","article-title":"Unusual early manifestation of multiple sulfatase deficiency","volume":"24","author":"Perlmutter\u2010Cremer N","year":"1981","journal-title":"Ann Radiol"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36988"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0412.2001.080008726.x"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2013.07.008"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.967"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-86"},{"key":"e_1_2_10_17_1","first-page":"347","article-title":"Nonimmunologic hydrops fetalis: a review of 61 cases","volume":"59","author":"Hutchison AA","year":"1982","journal-title":"Obstet Gynecol"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-0635"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0244-7"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0700382104"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3972"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12074","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12074","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12074","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T05:50:55Z","timestamp":1693288255000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12074"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,20]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1002\/jmd2.12074"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12074","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,20]]},"assertion":[{"value":"2019-03-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-08-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}