{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,4]],"date-time":"2022-04-04T14:04:26Z","timestamp":1649081066094},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2014,6,30]],"date-time":"2014-06-30T00:00:00Z","timestamp":1404086400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Biol Rep"],"published-print":{"date-parts":[[2014,9]]},"DOI":"10.1007\/s11033-014-3500-3","type":"journal-article","created":{"date-parts":[[2014,6,29]],"date-time":"2014-06-29T02:50:27Z","timestamp":1404010227000},"page":"6211-6214","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease)"],"prefix":"10.1007","volume":"41","author":[{"given":"Omid","family":"Aryani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masoumeh Dehghan","family":"Manshadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahdi","family":"Tondar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elham","family":"Khalili","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Behnam","family":"Kamalidehghan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatemeh","family":"Ahmadipour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Somayeh","family":"Fani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massoud","family":"Houshmand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,6,30]]},"reference":[{"key":"3500_CR1","first-page":"3389","volume-title":"The metabolic and molecular bases of inherited disease","author":"R Hirschhorn","year":"2001","unstructured":"Hirschhorn R, Reuser AJ (2001) Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver C, Beaudet A, Sly W (eds) The metabolic and molecular bases of inherited disease. McGraw Hill, New York, pp 3389\u20133420"},{"issue":"6","key":"3500_CR2","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/sj.ejhg.5200367","volume":"7","author":"M Ausems","year":"1999","unstructured":"Ausems M, Verbiest J, Hermans M, Kroos M, Beemer F, Wokke J, Sandkuijl L, Reuser A, Van der Ploeg A (1999) Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet EJHG 7(6):713","journal-title":"Eur J Hum Genet EJHG"},{"issue":"6","key":"3500_CR3","doi-asserted-by":"crossref","first-page":"E13","DOI":"10.1002\/humu.20745","volume":"29","author":"M Kroos","year":"2008","unstructured":"Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A (2008) Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat 29(6):E13\u2013E26","journal-title":"Hum Mutat"},{"issue":"1","key":"3500_CR4","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1042\/bj0860011","volume":"86","author":"H Hers","year":"1963","unstructured":"Hers H (1963) \u03b1-Glucosidase deficiency in generalized glycogen-storage disease (Pompe\u2019s disease). Biochem J 86(1):11","journal-title":"Biochem J"},{"issue":"3","key":"3500_CR5","first-page":"450","volume":"81","author":"I Salafsky","year":"1973","unstructured":"Salafsky I, Nadler H (1973) A fluorometric assay of alpha-glucosidase and its application in the study of Pompe\u2019s disease. J Lab Clin Med 81(3):450","journal-title":"J Lab Clin Med"},{"issue":"5","key":"3500_CR6","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.jpeds.2005.11.033","volume":"148","author":"PS Kishnani","year":"2006","unstructured":"Kishnani PS, Hwu W-L, Mandel H, Nicolino M, Yong F, Corzo D (2006) A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 148(5):671\u2013676","journal-title":"J Pediatr"},{"issue":"6","key":"3500_CR7","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1021\/bi00808a017","volume":"9","author":"BI Brown","year":"1970","unstructured":"Brown BI, Brown DH, Jeffrey PL (1970) Simultaneous absence of \u03b1-1, 4-glucosidase and \u03b1-1, 6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease. Biochemistry 9(6):1423\u20131428","journal-title":"Biochemistry"},{"issue":"4","key":"3500_CR8","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1111\/j.1469-1809.1975.tb00629.x","volume":"38","author":"DM Swallow","year":"1975","unstructured":"Swallow DM, Corney G, Harris H, Hirschhorn R (1975) Acid \u03b1-glucosidase: a new polymorphism in man demonstrable by \u2018affinity\u2019electrophoresis. Ann Hum Genet 38(4):391\u2013406","journal-title":"Ann Hum Genet"},{"issue":"2","key":"3500_CR9","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1016\/0003-9861(84)90408-9","volume":"231","author":"F Martiniuk","year":"1984","unstructured":"Martiniuk F, Honig J, Hirschhorn R (1984) Further studies of the structure of human placental acid \u03b1-glucosidase. Arch Biochem Biophys 231(2):454\u2013460","journal-title":"Arch Biochem Biophys"},{"issue":"24","key":"3500_CR10","doi-asserted-by":"crossref","first-page":"9641","DOI":"10.1073\/pnas.83.24.9641","volume":"83","author":"F Martiniuk","year":"1986","unstructured":"Martiniuk F, Mehler M, Pellicer A, Tzall S, La Badie G, Hobart C, Ellenbogen A, Hirschhorn R (1986) Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients. Proc Natl Acad Sci 83(24):9641\u20139644","journal-title":"Proc Natl Acad Sci"},{"issue":"2","key":"3500_CR11","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1089\/dna.1990.9.85","volume":"9","author":"F Martiniuk","year":"1990","unstructured":"Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R (1990) Sequence of the cDNA and 5\u2032-flanking region for human acid \u03b1-glucosidase, detection of an intron in the 5\u2032 untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences. DNA Cell Biol 9(2):85\u201394","journal-title":"DNA Cell Biol"},{"issue":"6","key":"3500_CR12","doi-asserted-by":"crossref","first-page":"1697","DOI":"10.1002\/j.1460-2075.1988.tb02998.x","volume":"7","author":"L Hoefsloot","year":"1988","unstructured":"Hoefsloot L, Hoogeveen-Westerveld M, Kroos M, Van Beeumen J, Reuser A, Oostra B (1988) Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. EMBO J 7(6):1697","journal-title":"EMBO J"},{"issue":"4","key":"3500_CR13","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1023\/A:1005394706622","volume":"20","author":"M Kroos","year":"1997","unstructured":"Kroos M, Waitfield A, Joosse M, Winchester B, Reuser A, MacDermot K (1997) A novel acid \u03b1-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II. J Inherit Metab Dis 20(4):556\u2013558","journal-title":"J Inherit Metab Dis"},{"key":"3500_CR14","unstructured":"Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Stephens K, Leslie N, Tinkle BT (2013) Glycogen Storage Disease Type II (Pompe Disease)"},{"issue":"3","key":"3500_CR15","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1093\/brain\/91.3.435","volume":"91","author":"P Hudgson","year":"1968","unstructured":"Hudgson P, Gardner-Medwin D, Worsfold M, Pennington R, Walton JN (1968) Adult myopathy from glycogen storage disease due to acid maltase deficiency. Brain 91(3):435\u2013462","journal-title":"Brain"},{"issue":"1","key":"3500_CR16","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/humu.10286","volume":"23","author":"MM Hermans","year":"2004","unstructured":"Hermans MM, Dv Leenen, Kroos MA, Beesley CE, Van der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP (2004) Twenty-two novel mutations in the lysosomal \u03b1-glucosidase gene (GAA) underscore the genotype\u2013phenotype correlation in glycogen storage disease type II. Hum Mutat 23(1):47\u201356","journal-title":"Hum Mutat"},{"issue":"9","key":"3500_CR17","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1016\/j.nmd.2007.06.002","volume":"17","author":"W M\u00fcller-Felber","year":"2007","unstructured":"M\u00fcller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, Walter MC, Baethmann M, Schlotter-Weigel B, Lochm\u00fcller H (2007) Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 17(9):698\u2013706","journal-title":"Neuromuscul Disord"},{"issue":"8","key":"3500_CR18","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1002\/humu.22108","volume":"33","author":"M Kroos","year":"2012","unstructured":"Kroos M, Hoogeveen-Westerveld M, Michelakakis H, Pomponio R, Van der Ploeg A, Halley D, Reuser A, Augoustides-Savvopoulou P, Ausems M, Llona JB (2012) Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. Hum Mutat 33(8):1161\u20131165","journal-title":"Hum Mutat"}],"container-title":["Molecular Biology Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-014-3500-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11033-014-3500-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-014-3500-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,11]],"date-time":"2019-08-11T20:56:52Z","timestamp":1565557012000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11033-014-3500-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,30]]},"references-count":18,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["3500"],"URL":"https:\/\/doi.org\/10.1007\/s11033-014-3500-3","relation":{},"ISSN":["0301-4851","1573-4978"],"issn-type":[{"value":"0301-4851","type":"print"},{"value":"1573-4978","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,30]]}}}