{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:30:04Z","timestamp":1762003804652},"reference-count":32,"publisher":"Hindawi Limited","issue":"4","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.1380020406","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T23:08:40Z","timestamp":1118531320000},"page":"268-273","source":"Crossref","is-referenced-by-count":29,"title":["Two mutations affecting the transport and maturation of lysosomal \u03b1-glucosidase in an adult case of glycogen storage disease type II"],"prefix":"10.1155","volume":"2","author":[{"given":"Monique M. P.","family":"Hermans","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marian A.","family":"Kroos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"De Graaff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ben A.","family":"Oostra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnold J. J.","family":"Reuser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"10.1002\/humu.1380020406-BIB1","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1172\/JCI109247","volume":"62","author":"Beratis","year":"1978","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.1380020406-BIB2","first-page":"21","volume":"35","author":"Beratis","year":"1983","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020406-BIB3","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1042\/bj2850915","volume":"285","author":"Chantret","year":"1992","journal-title":"Biochem J"},{"key":"10.1002\/humu.1380020406-BIB4","first-page":"45","volume":"47","author":"Chou","year":"1978","journal-title":"Adv Enzymol"},{"key":"10.1002\/humu.1380020406-BIB5","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/0378-1119(90)90421-M","volume":"95","author":"Dohmen","year":"1990","journal-title":"Gene"},{"key":"10.1002\/humu.1380020406-BIB6","first-page":"1629","volume-title":"Basic and Clinical Myology","author":"Engel","year":"1986","unstructured":"(1986) Acid maltase deficiency. In (eds): Basic and Clinical Myology. New York: McGraw-Hill, pp 1629-1650."},{"key":"10.1002\/humu.1380020406-BIB7","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1093\/nar\/16.1.369","volume":"16","author":"Green","year":"1988","journal-title":"Nucl Acids Res"},{"key":"10.1002\/humu.1380020406-BIB8","doi-asserted-by":"crossref","first-page":"4937","DOI":"10.1016\/S0021-9258(19)85585-0","volume":"255","author":"Hasilik","year":"1980a","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.1380020406-BIB9","doi-asserted-by":"crossref","first-page":"4946","DOI":"10.1016\/S0021-9258(19)85586-2","volume":"255","author":"Hasilik","year":"1980b","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.1380020406-BIB10","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/0006-291X(91)91906-S","volume":"179","author":"Hermans","year":"1991a","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.1380020406-BIB11","doi-asserted-by":"crossref","first-page":"13507","DOI":"10.1016\/S0021-9258(18)92727-4","volume":"266","author":"Hermans","year":"1991b","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.1380020406-BIB12","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1042\/bj2890687","volume":"289","author":"Hermans","year":"1993","journal-title":"Biochem J"},{"key":"10.1002\/humu.1380020406-BIB13","doi-asserted-by":"crossref","first-page":"1697","DOI":"10.1002\/j.1460-2075.1988.tb02998.x","volume":"7","author":"Hoefsloot","year":"1988","journal-title":"EMBO J"},{"key":"10.1002\/humu.1380020406-BIB14","first-page":"45","volume":"46","author":"Hoefsloot","year":"1990a","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020406-BIB15","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1042\/bj2720485","volume":"272","author":"Hoefsloot","year":"1990b","journal-title":"Biochem J"},{"key":"10.1002\/humu.1380020406-BIB16","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1042\/bj2720493","volume":"272","author":"Hoefsloot","year":"1990c","journal-title":"Biochem J"},{"key":"10.1002\/humu.1380020406-BIB17","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/0092-8674(86)90739-7","volume":"46","author":"Hunziker","year":"1986","journal-title":"Cell"},{"key":"10.1002\/humu.1380020406-BIB18","first-page":"657","volume":"202","author":"Kinsella","year":"1991","journal-title":"J Biochem"},{"key":"10.1002\/humu.1380020406-BIB19","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1093\/nar\/19.5.1154","volume":"19","author":"Marchuk","year":"1991","journal-title":"Nucl Acids Res"},{"key":"10.1002\/humu.1380020406-BIB20","doi-asserted-by":"crossref","first-page":"9641","DOI":"10.1073\/pnas.83.24.9641","volume":"83","author":"Martiniuk","year":"1986","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380020406-BIB21","first-page":"73","volume":"47","author":"Martiniuk","year":"1990a","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020406-BIB22","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1089\/dna.1990.9.85","volume":"9","author":"Martiniuk","year":"1990b","journal-title":"DNA Cell Biol"},{"key":"10.1002\/humu.1380020406-BIB23","first-page":"1215","volume-title":"In Mendelian Inheritance in Man","author":"McKusick","year":"1990","unstructured":"(1990) In Mendelian Inheritance in Man. Baltimore: The John Hopkins University Press, pp 1215-1218."},{"key":"10.1002\/humu.1380020406-BIB24","first-page":"132","volume":"30","author":"Reuser","year":"1978","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020406-BIB25","doi-asserted-by":"crossref","first-page":"8336","DOI":"10.1016\/S0021-9258(17)39477-2","volume":"260","author":"Reuser","year":"1985","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.1380020406-BIB26","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1172\/JCI113008","volume":"79","author":"Reuser","year":"1987","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.1380020406-BIB27","volume-title":"In Molecular Cloning: A Laboratory Manual","author":"Sambrook","year":"1989","unstructured":"(1989) In Molecular Cloning: A Laboratory Manual. Cold Spring Harbor, NY: Cold Spring Harbor Press."},{"key":"10.1002\/humu.1380020406-BIB28","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1093\/brain\/108.4.845","volume":"108","author":"Trend","year":"1985","journal-title":"Brain"},{"key":"10.1002\/humu.1380020406-BIB29","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1007\/BF00314479","volume":"235","author":"Van der Ploeg","year":"1988","journal-title":"J Neurol"},{"key":"10.1002\/humu.1380020406-BIB30","author":"Willemsen","year":"1993","unstructured":"(1993) Synthesis and in situ localization of lysosomal \u03b1-glucosidase in muscle of an unusual variant of glycogen storage disease type II. Ultrastruc Pathol (in press)."},{"key":"10.1002\/humu.1380020406-BIB31","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1016\/S0021-9258(18)53985-5","volume":"268","author":"Wisselaar","year":"1993","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.1380020406-BIB32","first-page":"635","volume":"49","author":"Zhong","year":"1991","journal-title":"Am J Hum Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.1380020406","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.1380020406","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:48:23Z","timestamp":1672332503000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.1380020406"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993]]},"references-count":32,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1993]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.1380020406","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993]]}}}