{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T12:11:01Z","timestamp":1725538261662},"publisher-location":"Dordrecht","reference-count":19,"publisher":"Springer Netherlands","isbn-type":[{"type":"print","value":"9789048128129"},{"type":"electronic","value":"9789048128136"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2009]]},"DOI":"10.1007\/978-90-481-2813-6_4","type":"book-chapter","created":{"date-parts":[[2009,9,25]],"date-time":"2009-09-25T18:30:53Z","timestamp":1253903453000},"page":"39-46","source":"Crossref","is-referenced-by-count":8,"title":["Phenotype Variations in Early Onset Pompe Disease: Diagnosis and Treatment Results with Myozyme\u00ae"],"prefix":"10.1007","author":[{"given":"Samuel Ignacio Pascual","family":"Pascual","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2009,9,14]]},"reference":[{"key":"4_CR1","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1097\/00125817-200103000-00008","volume":"3","author":"A Amalfitano","year":"2001","unstructured":"Amalfitano A, Bengur AR, Morse RP, et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I\/II clinical trial. Genet Med 2001; 3:132\u2013138.","journal-title":"Genet Med"},{"key":"4_CR2","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1016\/j.ymgme.2005.03.010","volume":"85","author":"Y An","year":"2005","unstructured":"An Y, Young SP, Kishnani PS, et al. Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Mol Genet Metab 2005; 85:247\u2013254.","journal-title":"Mol Genet Metab"},{"key":"4_CR3","doi-asserted-by":"publisher","first-page":"2145","DOI":"10.1093\/hmg\/8.12.2145","volume":"8","author":"AG Bijvoet","year":"1999","unstructured":"Bijvoet AG, Van Hirtum H, Kroos MA, et al. Human acid alphaglucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet 1999; 8:2145\u20132153.","journal-title":"Hum Mol Genet"},{"key":"4_CR4","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/j.cccn.2004.04.009","volume":"347","author":"NA Chamoles","year":"2004","unstructured":"Chamoles NA, Niizawa G, Blanco M, et al. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin Chim Acta 2004; 347:97\u2013102.","journal-title":"Clin Chim Acta"},{"key":"4_CR5","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1016\/j.ymgme.2007.05.011","volume":"92","author":"L Gort","year":"2007","unstructured":"Gort L, Coll MJ, Chab\u00e1s A. Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. Mol Genet Metab 2007; 92:183\u2013187.","journal-title":"Mol Genet Metab"},{"key":"4_CR6","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1016\/j.ymgme.2007.04.018","volume":"91","author":"ML Hawes","year":"2007","unstructured":"Hawes ML, Kennedy W, O\u2019Callaghan MW, et al. Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease. Mol Genet Metab 2007; 91:343\u2013351.","journal-title":"Mol Genet Metab"},{"key":"4_CR7","first-page":"3389","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"R Hirschhorn","year":"2000","unstructured":"Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Childs B, et al., eds. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York: McGraw-Hill; 2000: pp. 3389\u20133420.","edition":"8"},{"key":"4_CR8","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1212\/01.wnl.0000251268.41188.04","volume":"68","author":"P Kishnani","year":"2007","unstructured":"Kishnani P, Corzo D, Nicolino M, et al. Recombinant human acid alpha-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007; 68:99\u2013109.","journal-title":"Neurology"},{"key":"4_CR9","doi-asserted-by":"publisher","first-page":"S35","DOI":"10.1016\/j.jpeds.2004.01.053","volume":"144","author":"PS Kishnani","year":"2004","unstructured":"Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr 2004; 144:S35\u2013S43.","journal-title":"J Pediatr"},{"key":"4_CR10","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/j.jpeds.2005.11.033","volume":"148","author":"PS Kishnani","year":"2006","unstructured":"Kishnani PS, Hwu WL, Mandel H, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006a; 148:671\u2013676.","journal-title":"J Pediatr"},{"key":"4_CR11","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1016\/j.jpeds.2006.02.035","volume":"149","author":"PS Kishnani","year":"2006","unstructured":"Kishnani PS, Nicolino M, Voit T, et al. Chinese hamster ovary cell-derived recombinant human acid-glucosidase in infantile-onset Pompe disease. J Pediatr 2006b; 149:89\u201397.","journal-title":"J Pediatr"},{"key":"4_CR12","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1007\/s10545-007-0519-9","volume":"30","author":"DD Koeberl","year":"2007","unstructured":"Koeberl DD, Kishnani PS, Chen YT. Glycogen storage disease types I and II: treatment updates. J Inherit Metab Dis 2007; 30:159\u2013164.","journal-title":"J Inherit Metab Dis"},{"key":"4_CR13","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1212\/01.wnl.0000252798.25690.76","volume":"68","author":"MA Kroos","year":"2007","unstructured":"Kroos MA, Pomponio RJ, Hagemans ML, et al. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. Neurology 2007; 68:110\u2013115.","journal-title":"Neurology"},{"key":"4_CR14","doi-asserted-by":"publisher","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, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 2007; 17:698\u2013706.","journal-title":"Neuromuscul Disord"},{"key":"4_CR15","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1002\/mus.20473","volume":"33","author":"A Slonim","year":"2006","unstructured":"Slonim A, Boone L, Minikes J, et al. Benign course of glycogen storage disease type II in two brothers: nature or nurture? Muscle Nerve 2006; 33:571\u2013574.","journal-title":"Muscle Nerve"},{"key":"4_CR16","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1016\/S0140-6736(00)02533-2","volume":"356","author":"HH Den van","year":"2000","unstructured":"van Den HH, Reuser AJ, Vulto AG, et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 2000; 356:397\u2013398.","journal-title":"Lancet"},{"key":"4_CR17","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1542\/peds.112.2.332","volume":"112","author":"HMP Hout van den","year":"2003","unstructured":"van den Hout HMP, Hop W, van Diggelen OP, et al. The natural course of infantile Pompe\u2019s disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003; 112:332\u2013340.","journal-title":"Pediatrics"},{"key":"4_CR18","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1002\/mus.10381","volume":"27","author":"LPF Winkle","year":"2003","unstructured":"Winkle LPF, Kamphoven JHJ, van den Hout HMP, et al. Morphological changes in muscle tissue of patients with infantile Pompe\u2019s disease receiving enzyme replacement therapy. Muscle Nerve 2003; 27:743\u2013751.","journal-title":"Muscle Nerve"},{"key":"4_CR19","first-page":"241","volume":"84","author":"SP Young","year":"2005","unstructured":"Young SP, Corzo D, Kishnani P, et al. Diagnostic value of urinary and plasma glucose tetrasaccharides in infantile and late onset glycogen storage disease type II. Mol Genet Metab 2005; 84:241\u2013242.","journal-title":"Mol Genet Metab"}],"container-title":["Advances in Experimental Medicine and Biology","Inherited Neuromuscular Diseases"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-90-481-2813-6_4.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,25]],"date-time":"2020-11-25T11:37:26Z","timestamp":1606304246000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-90-481-2813-6_4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"ISBN":["9789048128129","9789048128136"],"references-count":19,"URL":"https:\/\/doi.org\/10.1007\/978-90-481-2813-6_4","relation":{},"ISSN":["0065-2598"],"issn-type":[{"type":"print","value":"0065-2598"}],"subject":[],"published":{"date-parts":[[2009]]}}}