{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T23:53:10Z","timestamp":1792194790666,"version":"4.4.0"},"reference-count":48,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,7,29]],"date-time":"2019-07-29T00:00:00Z","timestamp":1564358400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2019,7,29]],"date-time":"2019-07-29T00:00:00Z","timestamp":1564358400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ministry of Economic Affairs under TKI-allowance under TKI-programme Life Sciences & Health","award":["project number LSHM16008"],"award-info":[{"award-number":["project number LSHM16008"]}]},{"DOI":"10.13039\/100007637","name":"Administrative Department of Science, Technology and Innovation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007637","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2019,11]]},"DOI":"10.1002\/humu.23854","type":"journal-article","created":{"date-parts":[[2019,6,29]],"date-time":"2019-06-29T08:54:46Z","timestamp":1561798486000},"page":"1954-1967","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":64,"title":["Extension of the Pompe mutation database by linking disease\u2010associated variants to clinical severity"],"prefix":"10.1155","volume":"40","author":[{"given":"Monica Y.","family":"Ni\u00f1o","sequence":"first","affiliation":[{"name":"Department of Pediatrics Erasmus University Medical Center  Rotterdam The Netherlands"},{"name":"Department of Clinical Genetics Erasmus University Medical Center  Rotterdam The Netherlands"},{"name":"Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stijn L.M.","family":"in 't Groen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Erasmus University Medical Center  Rotterdam The Netherlands"},{"name":"Department of Clinical Genetics Erasmus University Medical Center  Rotterdam The Netherlands"},{"name":"Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atze J.","family":"Bergsma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Erasmus University Medical Center  Rotterdam The Netherlands"},{"name":"Department of Clinical Genetics Erasmus University Medical Center  Rotterdam The Netherlands"},{"name":"Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine A.M.E.","family":"Beek","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Erasmus University Medical Center  Rotterdam The Netherlands"},{"name":"Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marian","family":"Kroos","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Hoogeveen\u2010Westerveld","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ans T.","family":"Ploeg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Erasmus University Medical Center  Rotterdam The Netherlands"},{"name":"Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7042-2482","authenticated-orcid":false,"given":"W.W.M. Pim","family":"Pijnappel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Erasmus University Medical Center  Rotterdam The Netherlands"},{"name":"Department of Clinical Genetics Erasmus University Medical Center  Rotterdam The Netherlands"},{"name":"Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,29]]},"reference":[{"key":"e_1_2_7_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22705"},{"key":"e_1_2_7_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.ircmb.2017.07.008"},{"issue":"4","key":"e_1_2_7_1_4_1","first-page":"887","article-title":"Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II","volume":"56","author":"Boerkoel C. F.","year":"1995","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_7_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9898-5"},{"key":"e_1_2_7_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.07.277"},{"key":"e_1_2_7_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9206-3"},{"key":"e_1_2_7_1_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-6-249"},{"key":"e_1_2_7_1_9_1","doi-asserted-by":"publisher","DOI":"10.1089\/humc.2017.146"},{"key":"e_1_2_7_1_10_1","doi-asserted-by":"publisher","DOI":"10.1080\/15476286.2015.1068497"},{"key":"e_1_2_7_1_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt987"},{"key":"e_1_2_7_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1082-3"},{"key":"e_1_2_7_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22981"},{"key":"e_1_2_7_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13740"},{"key":"e_1_2_7_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.03.002"},{"key":"e_1_2_7_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9912-y"},{"key":"e_1_2_7_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9889-6"},{"key":"e_1_2_7_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35662"},{"key":"e_1_2_7_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.03.016"},{"key":"e_1_2_7_1_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.2"},{"key":"e_1_2_7_1_21_1","series-title":"Lysosomal Storage Disorders","volume-title":"The Online Metabolic and Molecular Bases of Inherited Disease","author":"Reuser A. J. J.","year":"2018"},{"key":"e_1_2_7_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02533-2"},{"key":"e_1_2_7_1_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.7.1081"},{"key":"e_1_2_7_1_24_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181b24e94"},{"key":"e_1_2_7_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.08.003"},{"key":"e_1_2_7_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22108"},{"key":"e_1_2_7_1_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20745"},{"key":"e_1_2_7_1_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.34"},{"key":"e_1_2_7_1_29_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004711"},{"key":"e_1_2_7_1_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0348-y"},{"key":"e_1_2_7_1_31_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1101135108"},{"key":"e_1_2_7_1_32_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc0806809"},{"key":"e_1_2_7_1_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.4"},{"key":"e_1_2_7_1_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.06.007"},{"key":"e_1_2_7_1_35_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0909859"},{"key":"e_1_2_7_1_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.11.046"},{"key":"e_1_2_7_1_37_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aam6375"},{"key":"e_1_2_7_1_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9451-8"},{"key":"e_1_2_7_1_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-017-01263-3"},{"key":"e_1_2_7_1_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.04.006"},{"key":"e_1_2_7_1_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.01.006"},{"key":"e_1_2_7_1_42_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005756"},{"key":"e_1_2_7_1_43_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-159058"},{"key":"e_1_2_7_1_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-009-5275-3"},{"key":"e_1_2_7_1_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1989.tb01782.x"},{"key":"e_1_2_7_1_46_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-11-252874"},{"key":"e_1_2_7_1_47_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-73"},{"key":"e_1_2_7_1_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtn.2017.03.002"},{"key":"e_1_2_7_1_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtn.2017.03.001"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23854","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.23854","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.23854","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.23854","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:57:03Z","timestamp":1672315023000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23854"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,29]]},"references-count":48,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["10.1002\/humu.23854"],"URL":"https:\/\/doi.org\/10.1002\/humu.23854","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,29]]},"assertion":[{"value":"2018-09-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}