{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T08:10:21Z","timestamp":1760170221292},"reference-count":39,"publisher":"Hindawi Limited","issue":"6","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":8278,"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":[[1993]]},"DOI":"10.1002\/humu.1380020605","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T23:10:14Z","timestamp":1118531414000},"page":"446-457","source":"Crossref","is-referenced-by-count":22,"title":["Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII"],"prefix":"10.1155","volume":"2","author":[{"given":"Benjamin M.","family":"Wu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William S.","family":"Sly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"10.1002\/humu.1380020605-BIB1","volume-title":"The molecular genetics of human \u03b2-glucuronidase in normal and mucopolysaccharidosis VII fibroblasts","author":"Bachinsky","year":"1991","unstructured":"(1991) The molecular genetics of human \u03b2-glucuronidase in normal and mucopolysaccharidosis VII fibroblasts. PhD thesis, St. Louis University, St. Louis, MO."},{"key":"10.1002\/humu.1380020605-BIB2","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1172\/JCI114010","volume":"83","author":"Birkenmeier","year":"1989","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.1380020605-BIB3","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1021\/bi00596a001","volume":"17","author":"Brot","year":"1978","journal-title":"Biochemistry"},{"key":"10.1002\/humu.1380020605-BIB4","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/0003-2697(87)90021-2","volume":"162","author":"Chomczynski","year":"1987","journal-title":"Anal Biochem"},{"key":"10.1002\/humu.1380020605-BIB5","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1083\/jcb.99.1.296","volume":"99","author":"Gabel","year":"1984","journal-title":"J Cell Biol"},{"key":"10.1002\/humu.1380020605-BIB6","first-page":"969","volume":"82","author":"Glaser","year":"1973","journal-title":"J Lab Clin Med"},{"key":"10.1002\/humu.1380020605-BIB7","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/0092-8674(81)90282-8","volume":"23","author":"Gluzman","year":"1981","journal-title":"Cell"},{"key":"10.1002\/humu.1380020605-BIB8","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/S0003-9861(73)80006-2","volume":"155","author":"Hall","year":"1973","journal-title":"Arch Biochem Biophys"},{"key":"10.1002\/humu.1380020605-BIB9","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1002\/ana.410140415","volume":"14","author":"Irani","year":"1983","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.1380020605-BIB10","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1002\/ajmg.1320420513","volume":"42","author":"Kagie","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.1380020605-BIB11","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.1093\/nar\/19.10.2793","volume":"19","author":"Klug","year":"1991","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.1380020605-BIB12","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/0165-022X(84)90040-X","volume":"10","author":"Kyhse-Andersen","year":"1984","journal-title":"J Biochem Biophys Methods"},{"key":"10.1002\/humu.1380020605-BIB13","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/B978-0-12-274010-7.50020-3","volume-title":"GUS Protocols: Using the GUS Gene as a Reporter of Gene Expression","author":"Kyle","year":"1992","unstructured":"(1992) \u03b2-Glucuronidase (GUS) assay in animal tissue. In (eds): GUS Protocols: Using the GUS Gene as a Reporter of Gene Expression. San Diego: Academic Press, pp 189-203."},{"key":"10.1002\/humu.1380020605-BIB14","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1038\/227680a0","volume":"227","author":"Laemmli","year":"1970","journal-title":"Nature (London)"},{"key":"10.1002\/humu.1380020605-BIB15","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1001\/archpedi.1985.02140030059029","volume":"139","author":"Lee","year":"1985","journal-title":"Amn J Dis Child"},{"key":"10.1002\/humu.1380020605-BIB16","author":"Liebaers","year":"1990","unstructured":"(1990) Hydrops foetalis due to \u03b2-glucuronidase deficiency. 2nd International Symposium on the Mucopolysaccharidoses and Related Diseases, University of Manchester, institute of Science and Technology."},{"key":"10.1002\/humu.1380020605-BIB17","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/pd.1970110612","volume":"11","author":"Lissens","year":"1991","journal-title":"Prenatal Diagnosis"},{"key":"10.1002\/humu.1380020605-BIB18","doi-asserted-by":"crossref","first-page":"5707","DOI":"10.1093\/nar\/12.14.5707","volume":"12","author":"Lopata","year":"1984","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.1380020605-BIB19","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.1093\/nar\/11.5.1295","volume":"11","author":"Luthman","year":"1983","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.1380020605-BIB20","author":"Mahuran","year":"1991","unstructured":"(1991) Linking genotype with phenotype in Tay-Sachs disease: Characterization of mutant hexosaminidase A expressed in COS cells. Proceedings of the 8th International Congress of Human Genetics, The Washington Convention Center, Washington, DC."},{"key":"10.1002\/humu.1380020605-BIB21","doi-asserted-by":"crossref","first-page":"2423","DOI":"10.1093\/nar\/19.9.2423","volume":"19","author":"Marton","year":"1991","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.1380020605-BIB22","volume-title":"Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes","author":"McKusick","year":"1988","unstructured":"(1988) Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes. Baltimore: The Johns Hopkins University Press."},{"key":"10.1002\/humu.1380020605-BIB23","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/0076-6879(83)01005-8","volume":"101","author":"Messing","year":"1983","journal-title":"Methods Enzymol"},{"key":"10.1002\/humu.1380020605-BIB24","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/0888-7543(90)90552-6","volume":"7","author":"Miller","year":"1990","journal-title":"Genomics"},{"key":"10.1002\/humu.1380020605-BIB25","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/0378-1119(89)90209-6","volume":"79","author":"Miyazaki","year":"1989","journal-title":"Gene"},{"key":"10.1002\/humu.1380020605-BIB26","doi-asserted-by":"crossref","first-page":"9679","DOI":"10.1093\/nar\/14.24.9679","volume":"14","author":"Nakamaye","year":"1986","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.1380020605-BIB27","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/S0022-3476(82)80707-5","volume":"101","author":"Nelson","year":"1982","journal-title":"J Pediatr"},{"key":"10.1002\/humu.1380020605-BIB28","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.1380020605-BIB29","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1073\/pnas.84.3.685","volume":"84","author":"Oshima","year":"1987","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380020605-BIB30","doi-asserted-by":"crossref","first-page":"4718","DOI":"10.1016\/S0021-9258(19)39621-8","volume":"265","author":"P\u00e4\u00e4bo","year":"1990","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.1380020605-BIB31","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1042\/bj2500547","volume":"250","author":"Powell","year":"1988","journal-title":"Biochem J"},{"key":"10.1002\/humu.1380020605-BIB32","doi-asserted-by":"crossref","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","volume":"74","author":"Sanger","year":"1977","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380020605-BIB33","first-page":"517","volume":"52","author":"Shipley","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020605-BIB34","first-page":"1174","volume-title":"Cecil Textbook of Medicine","author":"Sly","year":"1988","unstructured":"(1988) The Mucopolysaccharidoses. In (eds): Cecil Textbook of Medicine, 18th ed. Philadelphia: W. B. Saunders, pp 1174-1177."},{"key":"10.1002\/humu.1380020605-BIB35","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/S0022-3476(73)80162-3","volume":"82","author":"Sly","year":"1973","journal-title":"J Pediatr"},{"key":"10.1002\/humu.1380020605-BIB36","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1128\/JVI.45.2.773-781.1983","volume":"45","author":"Sprague","year":"1983","journal-title":"J Virol"},{"key":"10.1002\/humu.1380020605-BIB37","first-page":"89","volume":"48","author":"Tomatsu","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020605-BIB38","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/0378-1119(90)90019-N","volume":"89","author":"Tomatsu","year":"1990","journal-title":"Gene"},{"key":"10.1002\/humu.1380020605-BIB39","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1016\/0003-9861(92)90724-B","volume":"294","author":"Waheed","year":"1992","journal-title":"Arch Biochem Biophys"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.1380020605","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.1380020605","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:48:32Z","timestamp":1672332512000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.1380020605"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993]]},"references-count":39,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1993]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.1380020605","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993]]}}}