{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T16:52:19Z","timestamp":1781196739779,"version":"3.54.1"},"reference-count":7,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1981,12,1]],"date-time":"1981-12-01T00:00:00Z","timestamp":376012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1981,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This male infant was first brought to attention in the neonatal period because he presented clinical and radiological evidence of multiple bone deformities. He was readmitted at 2 1\/2 months for hydrocephaly, hepatosplenomegaly and poor somatic and psychomotor development. In addition, coarse facies, corneal opacities and stiff joints were noticed. Bone X\u2010ray anomalies and vacuolized lymphocytes supported the clinical presumption of lysosomal storage disorder. The diagnosis of multiple sulphatase deficiency rests on the presence of MPS and sulphatides in the urine, the finding of a mixed storage process in conjunctival biopsy and the demonstration of deficiencies in arylsulphatases A, B, C, iduronate sulphatase and heparan sulphatase in serum, leukocytes and cultured fibroblasts.<\/jats:p>","DOI":"10.1007\/bf02263612","type":"journal-article","created":{"date-parts":[[2005,12,8]],"date-time":"2005-12-08T17:09:31Z","timestamp":1134061771000},"page":"103-104","source":"Crossref","is-referenced-by-count":28,"title":["Multiple sulphatase deficiency with early onset"],"prefix":"10.1002","volume":"4","author":[{"given":"E.","family":"Vamos","sequence":"first","affiliation":[{"name":"Laboratory of Cytogenetics and Biochemical Genetics, Department of Pediatrics, Department of Ophthalmology and Department of Pediatric Radiology University Hospital St\u2010Pierre  Rue Haute 322 Brussels 1000 Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Liebaers","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics and Biochemical Genetics, Department of Pediatrics, Department of Ophthalmology and Department of Pediatric Radiology University Hospital St\u2010Pierre  Rue Haute 322 Brussels 1000 Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Bousard","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics and Biochemical Genetics, Department of Pediatrics, Department of Ophthalmology and Department of Pediatric Radiology University Hospital St\u2010Pierre  Rue Haute 322 Brussels 1000 Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Libert","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics and Biochemical Genetics, Department of Pediatrics, Department of Ophthalmology and Department of Pediatric Radiology University Hospital St\u2010Pierre  Rue Haute 322 Brussels 1000 Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Perlmutter","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics and Biochemical Genetics, Department of Pediatrics, Department of Ophthalmology and Department of Pediatric Radiology University Hospital St\u2010Pierre  Rue Haute 322 Brussels 1000 Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1981,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197912000-00002"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1974.00490320041005"},{"key":"e_1_2_1_4_1","first-page":"249","article-title":"Presence of arylsulfatase A in multiple sulfatase deficiency disorder fibroblasts","volume":"30","author":"Fluharty A. L.","year":"1978","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","unstructured":"Hall C. W. Liebaers I. Di Natale P.andNeufeld E. F.Enzymic diagnosis of the genetic mucopolysaccharide storage disorder.Meth. Enzymol.(1978)439\u2013455.","DOI":"10.1016\/0076-6879(78)50048-7"},{"key":"e_1_2_1_6_1","first-page":"528","volume-title":"Heritable Disorders of Connective Tissue","author":"McKusick V. A.","year":"1972"},{"key":"e_1_2_1_7_1","volume-title":"Ann. Radiol.","author":"Perlmutter\u2010Cremer N.","year":"1980"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","unstructured":"Suzuki K.Enzymic diagnosis of sphingolipidoses.Meth. Enzymol.(1978)456\u2013487.","DOI":"10.1016\/0076-6879(78)50049-9"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF02263612","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF02263612","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T15:29:38Z","timestamp":1694878178000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF02263612"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,12]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1981,12]]}},"alternative-id":["10.1007\/BF02263612"],"URL":"https:\/\/doi.org\/10.1007\/bf02263612","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1981,12]]}}}