{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:02:44Z","timestamp":1771002164473,"version":"3.50.1"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2015,3,15]],"date-time":"2015-03-15T00:00:00Z","timestamp":1426377600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1186\/s13023-015-0244-7","type":"journal-article","created":{"date-parts":[[2015,3,13]],"date-time":"2015-03-13T23:36:37Z","timestamp":1426289797000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency"],"prefix":"10.1186","volume":"10","author":[{"given":"Fr\u00e9d\u00e9rique","family":"Sabourdy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lionel","family":"Mourey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Le Trionnaire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Bednarek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Caillaud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Chaix","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie-Ange","family":"Delrue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Dusser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roselyne","family":"Garnotel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Guffon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9","family":"Megarbane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Ogier de Baulny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Michel","family":"P\u00e9despan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samia","family":"Pichard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vassili","family":"Valayannopoulos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Levade","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,3,15]]},"reference":[{"key":"244_CR1","doi-asserted-by":"crossref","first-page":"15C","DOI":"10.1042\/bj0930015C","volume":"93","author":"J Austin","year":"1964","unstructured":"Austin J, McAfee D, Armstrong D, O\u2019Rourke M, Shearer L, Bachhawat B. Abnormal sulphatase activities in two human diseases (metachromatic leucodystrophy and gargoylism). Biochem J. 1964;93:15C\u20137C.","journal-title":"Biochem J"},{"key":"244_CR2","first-page":"147","volume":"89","author":"J Austin","year":"1964","unstructured":"Austin J, McAfee D, Armstrong D, O\u2019Rourke M, Shearer L, Bachhawat B. Low sulfatase activities in metachromatic leukodystrophy (MLD). A controlled study of enzymes in 9 living and 4 autopsied patients with MLD. Trans Am Neurol Assoc. 1964;89:147\u201350.","journal-title":"Trans Am Neurol Assoc"},{"key":"244_CR3","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1203\/00006450-197912000-00002","volume":"13","author":"R Basner","year":"1979","unstructured":"Basner R, von Figura K, Glossl J, Klein U, Kresse H, Mlekusch W. Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis. Pediatr Res. 1979;13:1316\u20138.","journal-title":"Pediatr Res"},{"key":"244_CR4","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1111\/j.1471-4159.1974.tb12213.x","volume":"23","author":"Y Eto","year":"1974","unstructured":"Eto Y, Rampini S, Wiesmann U, Herschkowitz NN. Enzymic studies of sulphatases in tissues of the normal human and in metachromatic leukodystrophy with multiple sulphatase deficiencies: arylsulphatases A, B and C, cerebroside sulphatase, psychosine sulphatase and steroid sulphatases. J Neurochem. 1974;23:1161\u201370.","journal-title":"J Neurochem"},{"key":"244_CR5","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1159\/000469216","volume":"38","author":"Y Eto","year":"1987","unstructured":"Eto Y, Gomibuchi I, Umezawa F, Tsuda T. Pathochemistry, pathogenesis and enzyme replacement in multiple-sulfatase deficiency. Enzyme. 1987;38:273\u20139.","journal-title":"Enzyme"},{"key":"244_CR6","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/S0092-8674(03)00348-9","volume":"113","author":"MP Cosma","year":"2003","unstructured":"Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, et al. The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell. 2003;113:445\u201356.","journal-title":"Cell"},{"key":"244_CR7","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/S0092-8674(03)00347-7","volume":"113","author":"T Dierks","year":"2003","unstructured":"Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, et al. Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell. 2003;113:435\u201344.","journal-title":"Cell"},{"key":"244_CR8","first-page":"3725","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"J Hopwood","year":"2001","unstructured":"Hopwood J, Ballabio A. Multiple Sulfatase Deficiency and the Nature of the Sulfatase Family. In: Scriver, Beaudet, Valle, Sly, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. 2001. p. 3725\u201332.","edition":"8"},{"key":"244_CR9","doi-asserted-by":"crossref","first-page":"4506","DOI":"10.1073\/pnas.0700382104","volume":"104","author":"C Settembre","year":"2007","unstructured":"Settembre C, Annunziata I, Spampanato C, Zarcone D, Cobellis G, Nusco E, et al. Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. Proc Natl Acad Sci U S A. 2007;104:4506\u201311.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"Suppl 1","key":"244_CR10","first-page":"S34","volume":"47","author":"A Ballabio","year":"2009","unstructured":"Ballabio A. Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders. Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S34\u20138.","journal-title":"Int J Clin Pharmacol Ther"},{"key":"244_CR11","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1038\/mt.2010.299","volume":"19","author":"C Spampanato","year":"2011","unstructured":"Spampanato C, De Leonibus E, Dama P, Gargiulo A, Fraldi A, Sorrentino NC, et al. Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder. Mol Ther. 2011;19:860\u20139.","journal-title":"Mol Ther"},{"key":"244_CR12","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/j.cell.2005.03.001","volume":"121","author":"T Dierks","year":"2005","unstructured":"Dierks T, Dickmanns A, Preusser-Kunze A, Schmidt B, Mariappan M, von Figura K, et al. Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme. Cell. 2005;121:541\u201352.","journal-title":"Cell"},{"key":"244_CR13","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1107\/S0907444905013831","volume":"61","author":"D Roeser","year":"2005","unstructured":"Roeser D, Dickmanns A, Gasow K, Rudolph MG. De novo calcium\/sulfur SAD phasing of the human formylglycine-generating enzyme using in-house data. Acta Crystallogr D Biol Crystallogr. 2005;61:1057\u201366.","journal-title":"Acta Crystallogr D Biol Crystallogr"},{"key":"244_CR14","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1073\/pnas.0507592102","volume":"103","author":"D Roeser","year":"2006","unstructured":"Roeser D, Preusser-Kunze A, Schmidt B, Gasow K, Wittmann JG, Dierks T, et al. A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme. Proc Natl Acad Sci U S A. 2006;103:81\u20136.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"244_CR15","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.9504","volume":"28","author":"I Annunziata","year":"2007","unstructured":"Annunziata I, Bouche V, Lombardi A, Settembre C, Ballabio A. Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. Hum Mutat. 2007;28:928.","journal-title":"Hum Mutat"},{"key":"244_CR16","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1002\/humu.20040","volume":"23","author":"MP Cosma","year":"2004","unstructured":"Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, et al. Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat. 2004;23:576\u201381.","journal-title":"Hum Mutat"},{"key":"244_CR17","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/humu.9515","volume":"29","author":"L Schlotawa","year":"2008","unstructured":"Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gartner J. Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. Hum Mutat. 2008;29:205.","journal-title":"Hum Mutat"},{"key":"244_CR18","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/j.bbamcr.2008.11.015","volume":"1793","author":"T Dierks","year":"2009","unstructured":"Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B. Molecular basis of multiple sulfatase deficiency, mucolipidosis II\/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. Biochim Biophys Acta. 2009;1793:710\u201325.","journal-title":"Biochim Biophys Acta"},{"key":"244_CR19","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.ymgme.2005.07.004","volume":"86","author":"A Diaz-Font","year":"2005","unstructured":"Diaz-Font A, Santamaria R, Cozar M, Blanco M, Chamoles N, Coll MJ, et al. Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation. Mol Genet Metab. 2005;86:206\u201311.","journal-title":"Mol Genet Metab"},{"key":"244_CR20","doi-asserted-by":"crossref","first-page":"2610","DOI":"10.1093\/hmg\/ddn161","volume":"17","author":"A Fraldi","year":"2008","unstructured":"Fraldi A, Zito E, Annunziata F, Lombardi A, Cozzolino M, Monti M, et al. Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. Hum Mol Genet. 2008;17:2610\u201321.","journal-title":"Hum Mol Genet"},{"key":"244_CR21","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248\u20139.","journal-title":"Nat Methods"},{"key":"244_CR22","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","volume":"37","author":"FO Desmet","year":"2009","unstructured":"Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 2009;37:e67.","journal-title":"Nucleic Acids Res"},{"key":"244_CR23","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/bioinformatics\/bti770","volume":"22","author":"K Arnold","year":"2006","unstructured":"Arnold K, Bordoli L, Kopp J, Schwede T. The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics. 2006;22:195\u2013201.","journal-title":"Bioinformatics"},{"key":"244_CR24","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1002\/elps.1150181505","volume":"18","author":"N Guex","year":"1997","unstructured":"Guex N, Peitsch MC. SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis. 1997;18:2714\u201323.","journal-title":"Electrophoresis"},{"key":"244_CR25","doi-asserted-by":"crossref","first-page":"3381","DOI":"10.1093\/nar\/gkg520","volume":"31","author":"T Schwede","year":"2003","unstructured":"Schwede T, Kopp J, Guex N, Peitsch MC. SWISS-MODEL: an automated protein homology-modeling server. Nucleic Acids Res. 2003;31:3381\u20135.","journal-title":"Nucleic Acids Res"},{"key":"244_CR26","unstructured":"DeLano, WL. The PyMOL Molecular Graphics System [ www.pymol.org ]"},{"key":"244_CR27","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/ejhg.2010.219","volume":"19","author":"L Schlotawa","year":"2011","unstructured":"Schlotawa L, Ennemann EC, Radhakrishnan K, Schmidt B, Chakrapani A, Christen HJ, et al. SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. Eur J Hum Genet. 2011;19:253\u201361.","journal-title":"Eur J Hum Genet"},{"key":"244_CR28","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1055\/s-2001-12213","volume":"32","author":"GM Mancini","year":"2001","unstructured":"Mancini GM, van Diggelen OP, Huijmans JG, Stroink H, de Coo RF. Pitfalls in the diagnosis of multiple sulfatase deficiency. Neuropediatrics. 2001;32:38\u201340.","journal-title":"Neuropediatrics"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-015-0244-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13023-015-0244-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-015-0244-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,21]],"date-time":"2019-08-21T20:31:10Z","timestamp":1566419470000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.ojrd.com\/content\/10\/1\/31"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,15]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["244"],"URL":"https:\/\/doi.org\/10.1186\/s13023-015-0244-7","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,15]]},"article-number":"31"}}