{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T22:18:48Z","timestamp":1792102728918,"version":"4.4.0"},"reference-count":85,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,1,17]],"date-time":"2012-01-17T00:00:00Z","timestamp":1326758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2012,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that is caused by acid \u03b1\u2010glucosidase (GAA) deficiency and is due to pathogenic sequence variations in the corresponding\n                    <jats:italic>GAA<\/jats:italic>\n                    gene. The correlation between genotypes and phenotypes is strict, in that patients with the most severe phenotype, classic infantile Pompe disease, have two pathogenic mutations, one in each\n                    <jats:italic>GAA<\/jats:italic>\n                    allele, that prevent the formation of GAA or totally obliterates its function. All patients with less progressive phenotypes have at least one sequence variation that allows normal or low level synthesis of GAA leading to the formation of analytically measurable, low level GAA activity in most cases. There is an overall trend of finding higher GAA enzyme levels in patients with onset of symptoms in adulthood when compared to patients who show clinical manifestations in early childhood, aged 0\u20135 years, with a rapidly progressive course, but who lack the severe characteristics of classic infantile Pompe disease. However, several cases have been reported of adult\u2010onset disease with very low GAA activity, which in all those cases corresponds with the\n                    <jats:italic>GAA<\/jats:italic>\n                    genotype. The clinical diversity observed within a large group of patients with functionally the same\n                    <jats:italic>GAA<\/jats:italic>\n                    genotype and the same c.\u201032\u201013C\u2009&gt;\u2009T haplotype demonstrates that modifying factors can have a substantial effect on the clinical course of Pompe disease, disturbing the\n                    <jats:italic>GAA<\/jats:italic>\n                    genotype\u2013phenotype correlation. The present day challenge is to identify these factors and explore them as therapeutic targets. \u00a9 2012 Wiley Periodicals, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.c.31318","type":"journal-article","created":{"date-parts":[[2012,1,17]],"date-time":"2012-01-17T15:58:12Z","timestamp":1326815892000},"page":"59-68","source":"Crossref","is-referenced-by-count":120,"title":["The genotype\u2013phenotype correlation in Pompe disease"],"prefix":"10.1002","volume":"160C","author":[{"given":"Marian","family":"Kroos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Hoogeveen\u2010Westerveld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ans","family":"van der Ploeg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold J.J.","family":"Reuser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,1,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200103000-00008"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200367"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21933"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/301788"},{"key":"e_1_2_5_6_1","first-page":"21","article-title":"Genetic heterogeneity in acid alpha\u2010glucosidase deficiency","volume":"35","author":"Beratis NG","year":"1983","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9896(199911)189:3<416::AID-PATH445>3.0.CO;2-6"},{"key":"e_1_2_5_8_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 CF","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1227\/00006123-198711000-00030"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.02.004"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.03.015"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-2222"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000022938"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.04.009"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00247-4"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.05.011"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000249183.39952.3e"},{"key":"e_1_2_5_18_1","doi-asserted-by":"crossref","first-page":"13507","DOI":"10.1016\/S0021-9258(18)92727-4","article-title":"Human lysosomal alpha\u2010glucosidase. Characterization of the catalytic site","volume":"266","author":"Hermans MM","year":"1991","journal-title":"J Biol Chem"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2890681"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.12.2213"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10286"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj0860011"},{"key":"e_1_2_5_23_1","first-page":"141","article-title":"Glycogenosis type II. Glycogendistribution in tissues","volume":"84","author":"Hers G","year":"1967","journal-title":"Arch Pathol"},{"key":"e_1_2_5_24_1","first-page":"85","article-title":"Frequency of mutations for glycogen storage disease type II in different populations: The delta525T and deltaexon 18 mutations are not generally \u201ccommon\u201d in white populations [letter; comment]","volume":"36","author":"Hirschhorn R","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_25_1","first-page":"3389","volume-title":"The metabolic and molecular bases of inherited disease","author":"Hirschhorn R","year":"2001"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1988.tb02998.x"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.12.2231"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1996.tb00433.x"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00455-009-9252-x"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.12.006"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2003.12.018"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.02.035"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000218152.87434.f3"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251268.41188.04"},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.10.009"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:5<380::AID-HUMU6>3.0.CO;2-A"},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.02.012"},{"key":"e_1_2_5_38_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000252798.25690.76"},{"key":"e_1_2_5_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20745"},{"key":"e_1_2_5_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.34"},{"key":"e_1_2_5_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.03.004"},{"key":"e_1_2_5_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.12.014"},{"key":"e_1_2_5_43_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.8.1122"},{"key":"e_1_2_5_44_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000313367.09469.13"},{"key":"e_1_2_5_45_1","first-page":"115","article-title":"Molecular study on the infantile form of Pompe disease in Chinese in Taiwan","volume":"37","author":"Lin CY","year":"1996","journal-title":"Chung\u2010Hua Min Kuo Hsiao Erh Ko i Hsueh Hui Tsa Chih"},{"key":"e_1_2_5_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799482"},{"key":"e_1_2_5_47_1","doi-asserted-by":"publisher","DOI":"10.1089\/dna.1990.9.85"},{"key":"e_1_2_5_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980827)79:1<69::AID-AJMG16>3.0.CO;2-K"},{"key":"e_1_2_5_49_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.27.2.178"},{"key":"e_1_2_5_50_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1998.2800"},{"key":"e_1_2_5_51_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M404008200"},{"key":"e_1_2_5_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.06.002"},{"key":"e_1_2_5_53_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-009-5219-y"},{"key":"e_1_2_5_54_1","first-page":"67","article-title":"Molecular genetics of late onset glycogen storage disease II in Italy","volume":"26","author":"Pittis MG","year":"2007","journal-title":"Acta Myol"},{"key":"e_1_2_5_55_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20753"},{"key":"e_1_2_5_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0149-2918(08)00364-0"},{"key":"e_1_2_5_57_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880181415"},{"key":"e_1_2_5_58_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.7.995"},{"key":"e_1_2_5_59_1","first-page":"45","article-title":"Role of autophagy in the pathogenesis of Pompe disease","volume":"26","author":"Raben N","year":"2007","journal-title":"Acta Myol"},{"key":"e_1_2_5_60_1","doi-asserted-by":"publisher","DOI":"10.1177\/24.4.1063791"},{"key":"e_1_2_5_61_1","first-page":"132","article-title":"Biochemical, immunological, and cell genetic studies in glycogenosis type II","volume":"30","author":"Reuser AJJ","year":"1978","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_62_1","doi-asserted-by":"crossref","first-page":"8336","DOI":"10.1016\/S0021-9258(17)39477-2","article-title":"Defects in synthesis, phosphorylation, and maturation of acid alpha\u2010glucosidase in glycogenosis type II","volume":"260","author":"Reuser AJ","year":"1985","journal-title":"J Biol Chem"},{"key":"e_1_2_5_63_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113008"},{"key":"e_1_2_5_64_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880181414"},{"key":"e_1_2_5_65_1","doi-asserted-by":"publisher","DOI":"10.1517\/17530050903460300"},{"key":"e_1_2_5_66_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9209-0"},{"key":"e_1_2_5_67_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<306::AID-HUMU8>3.0.CO;2-S"},{"key":"e_1_2_5_68_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.01.006"},{"key":"e_1_2_5_69_1","doi-asserted-by":"publisher","DOI":"10.3109\/01676830.2010.546932"},{"key":"e_1_2_5_70_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.107112"},{"key":"e_1_2_5_71_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20473"},{"key":"e_1_2_5_72_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20665"},{"key":"e_1_2_5_73_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1310"},{"key":"e_1_2_5_74_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2009.32"},{"key":"e_1_2_5_75_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1989.tb01782.x"},{"key":"e_1_2_5_76_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0191-9"},{"key":"e_1_2_5_77_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9144-0"},{"key":"e_1_2_5_78_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02533-2"},{"key":"e_1_2_5_79_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1994.2360"},{"key":"e_1_2_5_80_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61555-X"},{"key":"e_1_2_5_81_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0909859"},{"key":"e_1_2_5_82_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0714-0"},{"key":"e_1_2_5_83_1","doi-asserted-by":"publisher","DOI":"10.3109\/01913129309041303"},{"key":"e_1_2_5_84_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380316"},{"key":"e_1_2_5_85_1","doi-asserted-by":"publisher","DOI":"10.3928\/01913913-20100106-08"},{"key":"e_1_2_5_86_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.188"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31318","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31318","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T15:57:11Z","timestamp":1694447831000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31318"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1,17]]},"references-count":85,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,2,15]]}},"alternative-id":["10.1002\/ajmg.c.31318"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31318","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1,17]]}}}