{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:36:28Z","timestamp":1791293788612,"version":"4.1.0"},"reference-count":55,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Curr Neurol Neurosci Rep"],"published-print":{"date-parts":[[2007,1]]},"DOI":"10.1007\/s11910-007-0024-4","type":"journal-article","created":{"date-parts":[[2007,4,18]],"date-time":"2007-04-18T17:36:41Z","timestamp":1176917801000},"page":"71-77","source":"Crossref","is-referenced-by-count":49,"title":["Acid alpha-glucosidase deficiency (Pompe disease)"],"prefix":"10.1007","volume":"7","author":[{"given":"Tokiko","family":"Fukuda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul H.","family":"Plotz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Raben","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2007,4,16]]},"reference":[{"key":"24_CR1","first-page":"304","volume":"76","author":"J.C. Pompe","year":"1932","unstructured":"Pompe JC: Over idiopatische hypertrophie van het hart. Ned Tijdschr Geneeskd 1932, 76:304.","journal-title":"Ned Tijdschr Geneeskd"},{"key":"24_CR2","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1042\/bj0860011","volume":"86","author":"H.G. Hers","year":"1963","unstructured":"Hers HG: Alpha-glucosidase deficiency in generalize glycogen storage disease (Pompe\u2019s disease). Biochem J 1963, 86:11.","journal-title":"Biochem J"},{"key":"24_CR3","first-page":"100","volume":"101","author":"W.S. Sly","year":"2004","unstructured":"Sly WS: Enzyme replacement therapy for lysosomal storage disorders: successful transition from concept to clinical practice. Mo Med 2004, 101:100\u2013104.","journal-title":"Mo Med"},{"key":"24_CR4","first-page":"1559","volume-title":"Myology","author":"A.G. Engel","year":"2003","unstructured":"Acid maltase deficiency. In Myology. Edited by Engel AG, Franzini-Armstrong C. New York: McGraw-Hill; 2003:1559\u20131586."},{"key":"24_CR5","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","volume":"8","author":"P.S. Kishnani","year":"2006","unstructured":"Kishnani PS, Steiner RD, Bali D, et al.: Pompe disease diagnosis and management guideline. Genet Med 2006, 8:267\u2013288.","journal-title":"Genet Med"},{"key":"24_CR6","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1067\/mpd.2000.107112","volume":"137","author":"A.E. Slonim","year":"2000","unstructured":"Slonim AE, Bulone L, Ritz S, et al.: Identification of two subtypes of infantile acid maltase deficiency. J Pediatr 2000, 137:283\u2013285.","journal-title":"J Pediatr"},{"key":"24_CR7","doi-asserted-by":"crossref","first-page":"S35","DOI":"10.1016\/j.jpeds.2004.01.053","volume":"144","author":"P.S. 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":"24_CR8","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/(SICI)1096-8628(19980827)79:1<69::AID-AJMG16>3.0.CO;2-K","volume":"79","author":"F. Martiniuk","year":"1998","unstructured":"Martiniuk F, Chen A, Mack A, et al.: Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet 1998, 79:69\u201372.","journal-title":"Am J Med Genet"},{"key":"24_CR9","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1542\/peds.112.2.332","volume":"112","author":"H.M. Hout Van den","year":"2003","unstructured":"Van den Hout HM, 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":"24_CR10","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.jpeds.2005.11.033","volume":"148","author":"P.S. 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 2006, 148:671\u2013676.","journal-title":"J Pediatr"},{"key":"24_CR11","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1093\/brain\/awh384","volume":"128","author":"M.L. Hagemans","year":"2005","unstructured":"Hagemans ML, Winkel LP, Van Doorn PA, et al.: Clinical manifestation and natural course of late-onset Pompe\u2019s disease in 54 Dutch patients. Brain 2005, 128:671\u2013677.","journal-title":"Brain"},{"key":"24_CR12","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1007\/s00415-005-0922-9","volume":"252","author":"L.P. Winkel","year":"2005","unstructured":"Winkel LP, Hagemans ML, Van Doorn PA, et al.: The natural course of non-classic Pompe\u2019s disease; a review of 225 published cases. J Neurol 2005, 252:875\u2013884.","journal-title":"J Neurol"},{"key":"24_CR13","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1146\/annurev.bi.61.070192.001515","volume":"61","author":"S. Kornfeld","year":"1992","unstructured":"Kornfeld S: Structure and function of the mannose 6-phosphate\/insulinlike growth factor II receptors. Annu Rev Biochem 1992, 61:307\u2013330.","journal-title":"Annu Rev Biochem"},{"key":"24_CR14","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1038\/nrm1050","volume":"4","author":"P. Ghosh","year":"2003","unstructured":"Ghosh P, Dahms NM, Kornfeld S: Mannose 6-phosphate receptors: new twists in the tale. Nat Rev Mol Cell Biol 2003, 4:202\u2013212.","journal-title":"Nat Rev Mol Cell Biol"},{"key":"24_CR15","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1016\/S0021-9258(18)53985-5","volume":"268","author":"H.A. Wisselaar","year":"1993","unstructured":"Wisselaar HA, Kroos MA, Hermans MM, et al.: Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation. J Biol Chem 1993, 268:2223\u20132231.","journal-title":"J Biol Chem"},{"key":"24_CR16","doi-asserted-by":"crossref","first-page":"6780","DOI":"10.1074\/jbc.M404008200","volume":"280","author":"R.J. Moreland","year":"2005","unstructured":"Moreland RJ, Jin X, Zhang XK, et al.: Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor. J Biol Chem 2005, 280:6780\u20136791.","journal-title":"J Biol Chem"},{"key":"24_CR17","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/S0140-6736(00)02533-2","volume":"356","author":"H. Hout Van den","year":"2000","unstructured":"Van den Hout H., 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":"24_CR18","doi-asserted-by":"crossref","first-page":"e448","DOI":"10.1542\/peds.113.5.e448","volume":"113","author":"J.M. Hout Van den","year":"2004","unstructured":"Van den Hout JM, Kamphoven JH, Winkel LP, et al.: Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 2004, 113:e448\u2013e457.","journal-title":"Pediatrics"},{"key":"24_CR19","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1055\/s-2005-837543","volume":"36","author":"L. Klinge","year":"2005","unstructured":"Klinge L, Straub V, Neudorf U, Voit T: Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study. Neuropediatrics 2005, 36:6\u201311.","journal-title":"Neuropediatrics"},{"key":"24_CR20","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1002\/ana.20019","volume":"55","author":"L.P. Winkel","year":"2004","unstructured":"Winkel LP, Van den Hout JM, Kamphoven JH, et al.: Enzyme replacement therapy in late-onset Pompe\u2019s disease: a three-year follow-up. Ann Neurol 2004, 55:495\u2013502.","journal-title":"Ann Neurol"},{"key":"24_CR21","first-page":"132","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":"24_CR22","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.jpeds.2006.02.035","volume":"149","author":"P. Kishnani","year":"2006","unstructured":"Kishnani P, Nicolino M, Voit T, et al.: Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr 2006, 149:89\u201397.","journal-title":"J Pediatr"},{"key":"24_CR23","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1097\/01.gim.0000195896.04069.5f","volume":"8","author":"A.K. Ansong","year":"2006","unstructured":"Ansong AK, Li JS, Nozik-Grayck E, et al.: Electrocardiographic response to enzyme replacement therapy for Pompe disease. Genet Med 2006, 8:297\u2013301.","journal-title":"Genet Med"},{"key":"24_CR24","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1097\/01.gim.0000217786.79173.a8","volume":"8","author":"A.L. Cook","year":"2006","unstructured":"Cook AL, Kishnani PS, Carboni MP, et al.: Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease. Genet Med 2006, 8:313\u2013317.","journal-title":"Genet Med"},{"key":"24_CR25","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1002\/mus.10381","volume":"27","author":"L.P. Winkel","year":"2003","unstructured":"Winkel LP, Kamphoven JH, Van Den Hout HJ, 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":"24_CR26","doi-asserted-by":"crossref","unstructured":"Thurberg BL, Lynch Maloney C, Vaccaro C, et al.: Characterization of pre-and post-treatment pathology after enzyme replacement therapy for pompe disease. Lab Invest 2006, In press.","DOI":"10.1038\/labinvest.3700484"},{"key":"24_CR27","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/BF02889849","volume":"45","author":"J.L. Griffin","year":"1984","unstructured":"Griffin JL: Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture. Virchows Arch B Cell Pathol Incl Mol Pathol 1984, 45:23\u201336.","journal-title":"Virchows Arch B Cell Pathol Incl Mol Pathol"},{"key":"24_CR28","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/BF02889850","volume":"45","author":"J.L. Griffin","year":"1984","unstructured":"Griffin JL: Infantile acid maltase deficiency. II. Muscle fiber hypertrophy and the ultrastructure of end-stage fibers. Virchows Arch B Cell Pathol Incl Mol Pathol 1984, 45:37\u201350.","journal-title":"Virchows Arch B Cell Pathol Incl Mol Pathol"},{"key":"24_CR29","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1093\/brain\/93.3.599","volume":"93","author":"A.G. Engel","year":"1970","unstructured":"Engel AG: Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain 1970, 93:599\u2013616.","journal-title":"Brain"},{"key":"24_CR30","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1002\/mus.880170614","volume":"17","author":"G. Vita","year":"1994","unstructured":"Vita G, Migliorato A, Toscano A, et al.: Immunocytochemistry of muscle cytoskeletal proteins in acid maltase deficiency. Muscle Nerve 1994, 17:655\u2013661.","journal-title":"Muscle Nerve"},{"key":"24_CR31","first-page":"90","volume":"22","author":"C. Angelini","year":"2003","unstructured":"Angelini C, Cenacchi G, Nascimbeni AC, Fulizio L: Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation. Acta Myol 2003, 22:90\u201396.","journal-title":"Acta Myol"},{"key":"24_CR32","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s00401-005-1026-4","volume":"110","author":"M.C. Sharma","year":"2005","unstructured":"Sharma MC, Schultze C, von Moers A, et al.: Delayed or late-onset type II glycogenosis with globular inclusions. Acta Neuropathol (Berl) 2005, 110:151\u2013157.","journal-title":"Acta Neuropathol (Berl)"},{"issue":"Suppl2","key":"24_CR33","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1038\/sj.cdd.4401765","volume":"12","author":"T. Yorimitsu","year":"2005","unstructured":"Yorimitsu T, Klionsky DJ: Autophagy: molecular machinery for self-eating. Cell Death Differ 2005, 12(Suppl 2):1542\u20131552.","journal-title":"Cell Death Differ"},{"key":"24_CR34","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/S0960-8966(02)00186-4","volume":"13","author":"M. Orth","year":"2003","unstructured":"Orth M, Mundegar RR: Effect of acid maltase deficiency on the endosomal\/lysosomal system and glucose transporter 4. Neuromuscul Disord 2003, 13:49\u201354.","journal-title":"Neuromuscul Disord"},{"key":"24_CR35","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.ymgme.2003.08.022","volume":"80","author":"N. Raben","year":"2003","unstructured":"Raben N, Danon M, Gilbert AL, et al.: Enzyme replacement therapy in the mouse model of Pompe disease. Mol Genet Metab 2003, 80:159\u2013169.","journal-title":"Mol Genet Metab"},{"key":"24_CR36","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.ymthe.2004.09.017","volume":"11","author":"N. Raben","year":"2005","unstructured":"Raben N, Fukuda T, Gilbert AL, et al.: Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther 2005, 11:48\u201356.","journal-title":"Mol Ther"},{"key":"24_CR37","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1002\/ana.20807","volume":"9","author":"T. Fukuda","year":"2006","unstructured":"Fukuda T, Ewan L, Bauer M, et al.: Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol 2006, 9:700\u2013708.","journal-title":"Ann Neurol"},{"key":"24_CR38","first-page":"2","volume":"5","author":"T. Fukuda","year":"2006","unstructured":"Fukuda T, Roberts A, Ahearn M, et al.: Autophagy and lysosomes in Pompe disease. Autophagy 2006, 5:2.","journal-title":"Autophagy"},{"key":"24_CR39","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1089\/ars.2006.8.197","volume":"8","author":"A. Terman","year":"2006","unstructured":"Terman A, Brunk UT: Oxidative stress, accumulation of biological \u2018garbage\u2019, and aging. Antioxid Redox Signal 2006, 8:197\u2013204.","journal-title":"Antioxid Redox Signal"},{"key":"24_CR40","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/S0925-4439(02)00229-6","volume":"1637","author":"R.P. Hesselink","year":"2003","unstructured":"Hesselink RP, Wagenmakers AJ, Drost MR, van der Vusse GJ: Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II. Biochim Biophys Acta 2003, 1637:164\u2013170.","journal-title":"Biochim Biophys Acta"},{"key":"24_CR41","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1002\/mus.20482","volume":"33","author":"R.P. Hesselink","year":"2006","unstructured":"Hesselink RP, Schaart G, Wagenmakers AJ, et al.: Age-related morphological changes in skeletal muscle cells of acid alpha-glucosidase knockout mice. Muscle Nerve 2006, 33:505\u2013513.","journal-title":"Muscle Nerve"},{"key":"24_CR42","doi-asserted-by":"crossref","unstructured":"Fukuda T, Ahearn M, Roberts A, et al.: Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease. Mol Ther 2006, In press.","DOI":"10.1016\/j.ymthe.2006.08.009"},{"key":"24_CR43","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1196\/annals.1354.005","volume":"1067","author":"A. Terman","year":"2006","unstructured":"Terman A: Catabolic insufficiency and aging. Ann N Y Acad Sci 2006, 1067:27\u201336.","journal-title":"Ann N Y Acad Sci"},{"key":"24_CR44","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/0006-291X(78)91207-X","volume":"85","author":"J.C. Dreyfus","year":"1978","unstructured":"Dreyfus JC, Poenaru L: Alpha glucosidases in white blood cells, with reference to the detection of acid alpha 1\u20134 glucosidase deficiency. Biochem Biophys Res Commun 1978, 85:615\u2013622.","journal-title":"Biochem Biophys Res Commun"},{"key":"24_CR45","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1093\/clinchem\/46.9.1318","volume":"46","author":"K. Umapathysivam","year":"2000","unstructured":"Umapathysivam K, Whittle AM, Ranieri E, et al.: Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. Clin Chem 2000, 46:1318\u20131325.","journal-title":"Clin Chem"},{"key":"24_CR46","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1002\/(SICI)1098-1004(1999)13:5<380::AID-HUMU6>3.0.CO;2-A","volume":"13","author":"T.M. Ko","year":"1999","unstructured":"Ko TM, Hwu WL, Lin YW, et al.: Molecular genetic study of Pompe disease in Chinese patients in Taiwan. Hum Mutat 1999, 13:380\u2013384.","journal-title":"Hum Mutat"},{"key":"24_CR47","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1093\/clinchem\/47.8.1378","volume":"47","author":"K. Umapathysivam","year":"2001","unstructured":"Umapathysivam K, Hopwood JJ, Meikle PJ: Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem 2001, 47:1378\u20131383.","journal-title":"Clin Chem"},{"key":"24_CR48","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.cccn.2004.04.009","volume":"347","author":"N.A. 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":"24_CR49","doi-asserted-by":"crossref","first-page":"1785","DOI":"10.1373\/clinchem.2004.035907","volume":"50","author":"Y. Li","year":"2004","unstructured":"Li Y, Scott CR, Chamoles NA, Ghavami A, et al.: Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem 2004, 50:1785\u20131796.","journal-title":"Clin Chem"},{"key":"24_CR50","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/0009-8981(85)90295-5","volume":"148","author":"Y.S. Shin","year":"1985","unstructured":"Shin YS, Endres W, Unterreithmeier J, et al.: Diagnosis of Pompe\u2019s disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells. Clin Chim Acta 1985, 148:9\u201319.","journal-title":"Clin Chim Acta"},{"key":"24_CR51","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1097\/01.gim.0000217781.66786.9b","volume":"8","author":"H. Zhang","year":"2006","unstructured":"Zhang H, Kallwass H, Young SP, et al.: Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genet Med 2006, 8:302\u2013306.","journal-title":"Genet Med"},{"key":"24_CR52","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.ymgme.2005.10.016","volume":"88","author":"T. Okumiya","year":"2006","unstructured":"Okumiya T, Keulemans JL, Kroos MA, et al.: A new diagnostic assay for glycogen storage disease type II in mixed leukocytes. Mol Genet Metab 2006, 88:22\u201328.","journal-title":"Mol Genet Metab"},{"key":"24_CR53","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1097\/01.gim.0000217785.19262.9e","volume":"8","author":"R.M. Jack","year":"2006","unstructured":"Jack RM, Gordon C, Scott CR, et al.: The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease. Genet Med 2006, 8:307\u2013312.","journal-title":"Genet Med"},{"key":"24_CR54","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1111\/j.1469-1809.1989.tb01782.x","volume":"53","author":"D.M. Swallow","year":"1989","unstructured":"Swallow DM, Kroos M, Van der Ploeg AT, et al.: An investigation of the properties and possible clinical significance of the lysosomal alpha-glucosidase GAA*2 allele. Ann Hum Genet 1989, 53:177\u2013184.","journal-title":"Ann Hum Genet"},{"key":"24_CR55","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.ymgme.2006.02.013","volume":"88","author":"P.J. Meikle","year":"2006","unstructured":"Meikle PJ, Grasby DJ, Dean CJ, et al.: Newborn screening for lysosomal storage disorders. Mol Genet Metab 2006, 88:307\u2013314.","journal-title":"Mol Genet Metab"}],"container-title":["Current Neurology and Neuroscience Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11910-007-0024-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11910-007-0024-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11910-007-0024-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T17:55:10Z","timestamp":1628790910000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11910-007-0024-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,1]]},"references-count":55,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,1]]}},"alternative-id":["24"],"URL":"https:\/\/doi.org\/10.1007\/s11910-007-0024-4","relation":{},"ISSN":["1528-4042","1534-6293"],"issn-type":[{"value":"1528-4042","type":"print"},{"value":"1534-6293","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,1]]}}}