{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:11Z","timestamp":1761717971873},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1983,5,5]],"date-time":"1983-05-05T00:00:00Z","timestamp":420940800000},"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":[[1984,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Multiple sulphatase deficiency was studied in 3 siblings \u2014 one pair of monozygotic twins and their sister. The children's psychomotor development was arrested at the age of 18 to 24 months, and the hypotonic syndrome combined with signs of spasticity appeared. There was marked hepatosplenomegaly, conspicuously dry scaly skin with the decortication syndrome developing and persisting in the presence of pronounced cachexia. Also present were numerous X\u2010ray abnormalities, metachromatically staining granules in the urine, and Alder\u2010Reilly's bodies in the blood leukocytes and in specimens of bone marrow. Liver, skin and muscle biopsies performed simultaneously revealed accumulations of water\u2010soluble mucopolysaccharides and deposits of sulphatides in the two twins. Enzyme assays demonstrated arylsulphatase A and B deficiency. The diagnosis was subsequently confirmed at all the three siblings' postmortem examinations.<\/jats:p>","DOI":"10.1007\/bf01805620","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T23:53:45Z","timestamp":1119916425000},"page":"38-40","source":"Crossref","is-referenced-by-count":13,"title":["Multiple sulphatase deficiency in homozygotic twins"],"prefix":"10.1002","volume":"7","author":[{"given":"S.","family":"Nev\u0161\u00edmalov\u00e1","sequence":"first","affiliation":[{"name":"Department of Neurology Charles University Medical Faculty  Katerinska 30 Prague 2 120 00 Czechoslovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Elleder","sequence":"additional","affiliation":[{"name":"1st Institute of Pathological Anatomy Charles University Medical Faculty  Prague Czechoslovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"\u0160m\u00edd","sequence":"additional","affiliation":[{"name":"1st Institute of Pathological Anatomy Charles University Medical Faculty  Prague Czechoslovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Zem\u00e1nkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Regional Institute of National Health  Ostrava Czechoslovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1983,5,5]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"120","volume-title":"Brain Lipids and Lipoproteins, and Leucodystrophies","author":"Austin J. 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Med."},{"key":"e_1_2_1_13_1","first-page":"185","volume-title":"Clinical and Biochemical Aspects on Inborn Metabolic Errors","author":"Tich\u00fd J.","year":"1979"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01805620","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01805620","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T16:59:55Z","timestamp":1694883595000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01805620"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,5,5]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1984,3]]}},"alternative-id":["10.1007\/BF01805620"],"URL":"https:\/\/doi.org\/10.1007\/bf01805620","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,5,5]]}}}