{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,15]],"date-time":"2024-09-15T14:48:51Z","timestamp":1726411731032},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1984,9,1]],"date-time":"1984-09-01T00:00:00Z","timestamp":462844800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Skeletal Radiol"],"published-print":{"date-parts":[[1984,9]]},"DOI":"10.1007\/bf00361081","type":"journal-article","created":{"date-parts":[[2004,10,31]],"date-time":"2004-10-31T13:39:44Z","timestamp":1099229984000},"page":"153-161","source":"Crossref","is-referenced-by-count":4,"title":["Mucolipidosis I"],"prefix":"10.1007","volume":"12","author":[{"given":"C. R.","family":"Staalman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. D.","family":"Bakker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","first-page":"219","volume":"47","author":"HD Bakker","year":"1979","unstructured":"Bakker HD, Abeling NGGM, Gennip AH van, Penning-Milborn JTh, Kamerling JP, Kleijer WJ (1979) Een patient met mucolipidosis type I: een lysosomale stapelingsziekte. Tijd Kindergeneeskd 47:219","journal-title":"Tijd Kindergeneeskd"},{"key":"CR2","first-page":"172","volume":"3","author":"M B\u00e9rard","year":"1968","unstructured":"B\u00e9rard M, Toga M, Bernard R, Dubois D, Mariani R, Hassoun J (1968) Pathological findings in one case of neuronal and mesenchymal storage disease. Its relationship to lipidoses and to mucopolysaccharidoses. Pathol Europ 3:172","journal-title":"Pathol Europ"},{"key":"CR3","volume-title":"Sialic acids; chemistry, metabolism and function","author":"M Cantz","year":"1983","unstructured":"Cantz M (1983) Sialidoses. In: Schauer R (ed) Sialic acids; chemistry, metabolism and function. Springer Verlag, Wien New York"},{"key":"CR4","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1111\/j.1432-1033.1979.tb13091.x","volume":"97","author":"M Cantz","year":"1979","unstructured":"Cantz M, Messer H (1979) Oligosaccharide and ganglioside neuraminidase activities of mucolipidosis I (sialidosis) and mucolipidosis II (I-cell disease) fibroblasts. Eur J Biochem 97:113","journal-title":"Eur J Biochem"},{"key":"CR5","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1016\/0006-291X(77)90363-1","volume":"74","author":"M Cantz","year":"1977","unstructured":"Cantz M, Gehler J, Spranger J (1977) Mucolipidosis I: increased sialic acid content and deficiency of an ?-N-acetylneuraminidase in cultured fibroblasts. Biochem Biophys Res Commun 74:732","journal-title":"Biochem Biophys Res Commun"},{"key":"CR6","first-page":"391","volume":"32","author":"P Durand","year":"1977","unstructured":"Durand P, Gatti R, Cavalieri S, Borrone C, Tondeur M, Michalski J-C, Strecker G (1977) Sialidosis (mucolipidosis I). Helv Paediatr Acta 32:391","journal-title":"Helv Paediatr Acta"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1007\/BF02222956","volume":"24","author":"G Hurler","year":"1919","unstructured":"Hurler G (1919) \u00dcber einen Typ multipler Abartungen, vorwiegend am Skelettsystem. Z Kinderheilk 24:220","journal-title":"Z Kinderheilk"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/ajmg.1320010105","volume":"1","author":"ThE Kelly","year":"1977","unstructured":"Kelly ThE, Graetz G (1977) Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease. Am J Med Genet 1:31","journal-title":"Am J Med Genet"},{"key":"CR9","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1001\/archpedi.1981.02130320017006","volume":"135","author":"ThE Kelly","year":"1981","unstructured":"Kelly ThE, Bartoshesky L, Harris DJ, McCauley RGK, Feingold M, Schott G (1981) Mucolipidosis I (Acid neuraminidase deficiency). Am J Dis Child 135:703","journal-title":"Am J Dis Child"},{"key":"CR10","first-page":"1","volume":"31","author":"JA Lowden","year":"1979","unstructured":"Lowden JA, O'Brien JS (1979) Sialidosis. A review of human neuraminidase deficiency. Am J Hum Genet 31:1","journal-title":"Am J Hum Genet"},{"key":"CR11","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1016\/0006-291X(77)91124-X","volume":"79","author":"JS O'Brien","year":"1977","unstructured":"O'Brien JS (1977) Neuraminidase deficiency in the cherryred spot-myoclonus syndrome. Biochem Biophys Res Commun 79:1136","journal-title":"Biochem Biophys Res Commun"},{"key":"CR12","volume-title":"The hand in radiological diagnosis","author":"AK Poznanski","year":"1974","unstructured":"Poznanski AK (1974) The hand in radiological diagnosis. WB Saunders, Philadelphia London"},{"key":"CR13","volume-title":"Klinik der Mukopolysaccharidosen","author":"SU Rampini","year":"1976","unstructured":"Rampini SU (1976) Klinik der Mukopolysaccharidosen. Ferdinand Enke, Stuttgart"},{"key":"CR14","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1002\/ana.410030309","volume":"3","author":"I Rapin","year":"1978","unstructured":"Rapin I, Goldfischer S, Katzman R, Engel J, O'Brien JS (1978) The cherry-red spot-myoclonus syndrome. Ann Neurol 3:234","journal-title":"Ann Neurol"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1007\/BF00278928","volume":"9","author":"JW Spranger","year":"1970","unstructured":"Spranger JW, Wiedemann H-R (1970) The genetic mucolipidoses. Diagnosis and differential diagnosis. Hum Genet 9:113","journal-title":"Hum Genet"},{"key":"CR16","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/BF00439910","volume":"103","author":"J Spranger","year":"1968","unstructured":"Spranger J, Wiedemann H-R, Tolksdorf M, Graucob E, Caesar R (1968) Lipomucopolysaccharidose. Eine neue Speicherkrankheit. Z Kinderheilk 103:285","journal-title":"Z Kinderheilk"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/ajmg.1320010104","volume":"1","author":"J Spranger","year":"1977","unstructured":"Spranger J, Gehler J, Cantz M (1977) Mucolipidosis I?a sialidosis. Am J Med Genet 1:21","journal-title":"Am J Med Genet"},{"key":"CR18","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1111\/j.1399-0004.1978.tb01194.x","volume":"13","author":"GH Thomas","year":"1978","unstructured":"Thomas GH, Tipton RE, Ch'ien LT, Reynolds LW, Miller CS (1978) Sialidase (?-N-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia. Clin Genet 13:369","journal-title":"Clin Genet"},{"key":"CR19","unstructured":"Verhe\u00ffen FW, Janse HC, Diggelen OP van, Bakker HD, Loonen MCP, Durand P, Galjaard H (in press) Two genetically different Mu-NANA neuraminidases in human leucocytes. Biochem Biophys Res Commun"}],"container-title":["Skeletal Radiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00361081.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00361081\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00361081","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,8]],"date-time":"2019-04-08T21:02:30Z","timestamp":1554757350000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00361081"}},"subtitle":["Roentgenographic Follow-up"],"short-title":[],"issued":{"date-parts":[[1984,9]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1984,9]]}},"alternative-id":["BF00361081"],"URL":"https:\/\/doi.org\/10.1007\/bf00361081","relation":{},"ISSN":["0364-2348","1432-2161"],"issn-type":[{"type":"print","value":"0364-2348"},{"type":"electronic","value":"1432-2161"}],"subject":[],"published":{"date-parts":[[1984,9]]}}}