{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T23:58:17Z","timestamp":1793145497419,"version":"4.5.0"},"reference-count":66,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":7548,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[1995]]},"DOI":"10.1002\/humu.1380060403","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T10:05:01Z","timestamp":1118484301000},"page":"288-302","source":"Crossref","is-referenced-by-count":168,"title":["Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications"],"prefix":"10.1155","volume":"6","author":[{"given":"Hamish S.","family":"Scott","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna","family":"Bunge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Gal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lome A.","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. Phillip","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J.","family":"Hopwood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"10.1002\/humu.1380060403-BIB1","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1089\/hum.1992.3.4-371","volume":"3","author":"Anson","year":"1992","journal-title":"Human Gene Therapy"},{"key":"10.1002\/humu.1380060403-BIB2","first-page":"787","volume":"50","author":"Ashton","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380060403-BIB3","doi-asserted-by":"crossref","first-page":"2048","DOI":"10.1073\/pnas.69.8.2048","volume":"69","author":"Bach","year":"1972","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380060403-BIB4","first-page":"330","volume":"53","author":"Bach","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380060403-BIB5","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/0022-2836(91)90528-E","volume":"217","author":"Bordo","year":"1991","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.1380060403-BIB6","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/0885-4505(92)90028-W","volume":"47","author":"Brooks","year":"1992","journal-title":"Biochem Med Metab Biol"},{"key":"10.1002\/humu.1380060403-BIB7","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1002\/humu.1380060119","volume":"6","author":"Bunge","year":"1995","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.1380060403-BIB8","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1093\/hmg\/3.6.861","volume":"3","author":"Bunge","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.1380060403-BIB9","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1006\/geno.1994.1621","volume":"24","author":"Clarke","year":"1994","journal-title":"Genomics"},{"key":"10.1002\/humu.1380060403-BIB10","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1002\/humu.1380030316","volume":"3","author":"Clarke","year":"1994","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.1380060403-BIB11","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1093\/hmg\/2.8.1311","volume":"2","author":"Clarke","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.1380060403-BIB12","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1042\/bj2590199","volume":"259","author":"Clements","year":"1989","journal-title":"Biochem J"},{"key":"10.1002\/humu.1380060403-BIB13","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1159\/000112332","volume":"6","author":"Conzelmann","year":"1984","journal-title":"Dev Neurosci"},{"key":"10.1002\/humu.1380060403-BIB14","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1002\/humu.1380010104","volume":"1","author":"Eisensmith","year":"1992","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.1380060403-BIB15","first-page":"571","volume":"51","author":"Gandelman","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380060403-BIB16","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/pd.1970050209","volume":"5","author":"Gatti","year":"1985","journal-title":"Prenat Diagn"},{"key":"10.1002\/humu.1380060403-BIB17","first-page":"190","volume-title":"Heparin: Chemical and biological properties, clinical applications","author":"Hopwood","year":"1989","unstructured":"(1989) Enzymes that degrade heparin and heparan sulphate In (eds) Heparin: Chemical and biological properties, clinical applications. London: Edward Arnold, pp 190-229."},{"key":"10.1002\/humu.1380060403-BIB18","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1002\/humu.1380020603","volume":"2","author":"Hopwood","year":"1993","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.1380060403-BIB19","first-page":"381","volume":"7","author":"Hopwood","year":"1990","journal-title":"Mol Biol Med"},{"key":"10.1002\/humu.1380060403-BIB20","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1007\/BF00711520","volume":"16","author":"Hopwood","year":"1993","journal-title":"J Inherit Met Dis"},{"key":"10.1002\/humu.1380060403-BIB21","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1007\/BF02222956","volume":"24","author":"Hurler","year":"1919","journal-title":"Z. Kinderheilkd"},{"key":"10.1002\/humu.1380060403-BIB22","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1006\/prep.1994.1035","volume":"5","author":"Kakkis","year":"1994","journal-title":"Protein Expression and Purification"},{"key":"10.1002\/humu.1380060403-BIB23","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1038\/ng1193-274","volume":"5","author":"Kiesewetter","year":"1993","journal-title":"Nature Genetics"},{"key":"10.1002\/humu.1380060403-BIB24","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1007\/BF00711517","volume":"16","author":"Krasnopolskaya","year":"1993","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.1380060403-BIB25","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1099\/00221287-139-6-1235","volume":"139","author":"Lee","year":"1993","journal-title":"J Gen Microbiol"},{"key":"10.1002\/humu.1380060403-BIB26","first-page":"221","volume":"284","author":"Lowry","year":"1971","journal-title":"(letter) N Engl J Med"},{"key":"10.1002\/humu.1380060403-BIB27","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/BF00206770","volume":"85","author":"Lowry","year":"1990","journal-title":"Hum Genet"},{"key":"10.1002\/humu.1380060403-BIB28","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1128\/AEM.56.4.1017-1024.1990","volume":"56","author":"Luthi","year":"1990","journal-title":"Appl Env Microbiol"},{"key":"10.1002\/humu.1380060403-BIB29","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1007\/BF01233067","volume":"17","author":"MacDonald","year":"1991","journal-title":"Som Cell Molec Genet"},{"key":"10.1002\/humu.1380060403-BIB30","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1002\/ajmg.1320470732","volume":"47","author":"McDowell","year":"1993","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.1380060403-BIB31","first-page":"521","volume-title":"Heritable Disorders of Connective Tissue","author":"McKusick","year":"1972","unstructured":"(1972) The mucopolysaccharidoses In Heritable Disorders of Connective Tissue, 4th ed, Saint Louis: C.V. Mosby, pp 521-686."},{"key":"10.1002\/humu.1380060403-BIB32","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1016\/S0140-6736(72)91159-2","volume":"I","author":"McKusick","year":"1972","journal-title":"Lancet"},{"key":"10.1002\/humu.1380060403-BIB33","first-page":"751","volume-title":"The Metabolic Basis of Inherited Disease","author":"McKusick","year":"1983","unstructured":"(1983) The mucopolysaccharide storage diseases In (eds): The Metabolic Basis of Inherited Disease, 5th ed. New York: McGraw-Hill, pp 751-777."},{"key":"10.1002\/humu.1380060403-BIB34","first-page":"999","volume":"40","author":"Menon","year":"1994","journal-title":"Cell Mol Biol"},{"key":"10.1002\/humu.1380060403-BIB35","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/S0888-7543(05)80182-X","volume":"14","author":"Menon","year":"1992","journal-title":"Genomics"},{"key":"10.1002\/humu.1380060403-BIB36","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1002\/humu.1380020113","volume":"2","author":"Moskowitz","year":"1993a","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.1380060403-BIB37","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1002\/humu.1380020215","volume":"2","author":"Moskowitz","year":"1993b","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.1380060403-BIB38","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1146\/annurev.bi.60.070191.001353","volume":"60","author":"Neufeld","year":"1991","journal-title":"Annu Rev Biochem"},{"key":"10.1002\/humu.1380060403-BIB39","first-page":"1565","volume-title":"The Metabolic Basis of Inherited Disease","author":"Neufeld","year":"1989","unstructured":"(1989) The mucopolysaccharidoses In (eds). The Metabolic Basis of Inherited Disease, 6th ed. New York: McGraw Hill, pp 1565-1587."},{"key":"10.1002\/humu.1380060403-BIB40","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1016\/0002-9394(62)91975-X","volume":"53","author":"Scheie","year":"1962","journal-title":"Amer J Ophthal"},{"key":"10.1002\/humu.1380060403-BIB41","author":"Scott","year":"1992","unstructured":"(1992) The molecular genetics of mucopolysaccharidosis type I, PhD thesis, University of Adelaide."},{"key":"10.1002\/humu.1380060403-BIB42","first-page":"802","volume":"47","author":"Scott","year":"1990","journal-title":"Am J Hum Genet."},{"key":"10.1002\/humu.1380060403-BIB43","doi-asserted-by":"crossref","first-page":"9695","DOI":"10.1073\/pnas.88.21.9695","volume":"88","author":"Scott","year":"1991a","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380060403-BIB44","doi-asserted-by":"crossref","first-page":"6348","DOI":"10.1093\/nar\/19.22.6348-a","volume":"19","author":"Scott","year":"1991b","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.1380060403-BIB45","doi-asserted-by":"crossref","first-page":"5796","DOI":"10.1093\/nar\/19.20.5796-a","volume":"19","author":"Scott","year":"1991c","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.1380060403-BIB46","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1016\/0888-7543(92)90053-U","volume":"13","author":"Scott","year":"1992a","journal-title":"Genomics"},{"key":"10.1002\/humu.1380060403-BIB47","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/humu.1380010204","volume":"1","author":"Scott","year":"1992b","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.1380060403-BIB48","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1007\/BF00220095","volume":"90","author":"Scott","year":"1992c","journal-title":"Hum Genet"},{"key":"10.1002\/humu.1380060403-BIB49","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1002\/humu.1380010412","volume":"1","author":"Scott","year":"1992d","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.1380060403-BIB50","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1007\/BF02265303","volume":"38","author":"Scott","year":"1992e","journal-title":"Hum Genet"},{"key":"10.1002\/humu.1380060403-BIB51","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1016\/S0888-7543(05)80145-4","volume":"14","author":"Scott","year":"1992f","journal-title":"Genomics"},{"key":"10.1002\/humu.1380060403-BIB52","first-page":"973","volume":"53","author":"Scott","year":"1993a","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380060403-BIB53","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1093\/hmg\/2.9.1471","volume":"2","author":"Scott","year":"1993b","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.1380060403-BIB54","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/0092-8674(94)90302-6","volume":"78","author":"Shiang","year":"1994","journal-title":"Cell"},{"key":"10.1002\/humu.1380060403-BIB55","doi-asserted-by":"crossref","first-page":"12937","DOI":"10.1073\/pnas.91.26.12937","volume":"91","author":"Shull","year":"1994","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380060403-BIB56","doi-asserted-by":"crossref","first-page":"6570","DOI":"10.1016\/S0021-9258(19)50465-3","volume":"267","author":"Stoltzfus","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.1380060403-BIB57","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1007\/BF00711533","volume":"16","author":"Taylor","year":"1994","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.1380060403-BIB58","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/humu.1380060111","volume":"6","author":"Tieu","year":"1995","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.1380060403-BIB59","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1002\/humu.1380030330","volume":"3","author":"Tieu","year":"1994","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.1380060403-BIB60","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1042\/bj3040043","volume":"304","author":"Unger","year":"1994","journal-title":"Biochem J"},{"key":"10.1002\/humu.1380060403-BIB61","doi-asserted-by":"crossref","first-page":"4683","DOI":"10.1093\/nar\/14.11.4683","volume":"14","author":"von Heijne","year":"1986","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.1380060403-BIB62","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1016\/0888-7543(91)90039-H","volume":"11","author":"Weber","year":"1991","journal-title":"Genomics"},{"key":"10.1002\/humu.1380060403-BIB63","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/ajmg.1320280136","volume":"28","author":"Whitley","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.1380060403-BIB64","first-page":"a101","volume":"52","author":"Whitley","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380060403-BIB65","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1126\/science.169.3940.72","volume":"169","author":"Wiesmann","year":"1970","journal-title":"Science"},{"key":"10.1002\/humu.1380060403-BIB66","author":"Yamagishi","year":"1996","unstructured":"(1996) Mucopolysaccharidosis Type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. Hum Mutat (in press)."}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.1380060403","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.1380060403","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:49:42Z","timestamp":1672314582000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.1380060403"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995]]},"references-count":66,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1995]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.1380060403","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995]]}}}