{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:12:50Z","timestamp":1761718370291,"version":"3.40.5"},"reference-count":78,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2015,4,1]],"date-time":"2015-04-01T00:00:00Z","timestamp":1427846400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2015,4]]},"DOI":"10.1016\/j.gene.2015.02.023","type":"journal-article","created":{"date-parts":[[2015,2,12]],"date-time":"2015-02-12T01:51:09Z","timestamp":1423705869000},"page":"124-131","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["Novel GAA mutations in patients with Pompe disease"],"prefix":"10.1016","volume":"561","author":[{"given":"Lauro Thiago","family":"Tura\u00e7a","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglas Oliveira Soares","family":"de Faria","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra Obikawa","family":"Kyosen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valber Dias","family":"Teixeira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabiana Louise","family":"Motta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliana Gilbert","family":"Pessoa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Rodrigues e Silva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandro Soares","family":"de Almeida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e2nia","family":"D'Almeida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Ver\u00f4nica","family":"Munoz Rojas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Maria","family":"Martins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o Bosco","family":"Pesquero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2015.02.023_bb0245","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.gene.2015.02.023_bb0240","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1111\/j.1399-0004.2005.00557.x","article-title":"Two clinical forms of glycogen-storage disease type II in two generations of the same family","volume":"69","author":"Amartino","year":"2006","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0190","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/sj.ejhg.5200367","article-title":"Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling","volume":"7","author":"Ausems","year":"1999","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0345","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/S0960-8966(00)00123-1","article-title":"Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families","volume":"10","author":"Ausems","year":"2000","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.gene.2015.02.023_bb0420","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1086\/301788","article-title":"The African origin of the common mutation in African American patients with glycogen-storage disease type II","volume":"62","author":"Becker","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0285","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/S0887-8994(02)00413-7","article-title":"l-Alanine supplementation in late infantile glycogen storage disease type II","volume":"27","author":"Bodamer","year":"2002","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.gene.2015.02.023_bb0325","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","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0175","doi-asserted-by":"crossref","first-page":"1469","DOI":"10.6061\/clinics\/2013(11)14","article-title":"Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry","volume":"68","author":"Brand","year":"2013","journal-title":"Clinics (Sao Paulo)"},{"key":"10.1016\/j.gene.2015.02.023_bb0205","doi-asserted-by":"crossref","first-page":"439","DOI":"10.33588\/rn.3305.2001056","article-title":"Familial Pitt-Rogers-Danks: two new cases","volume":"33","author":"Cabrera Lopez","year":"2001","journal-title":"Rev. Neurol."},{"key":"10.1016\/j.gene.2015.02.023_bb0035","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/s00247-007-0428-y","article-title":"Fractures in children with Pompe disease: a potential long-term complication","volume":"37","author":"Case","year":"2007","journal-title":"Pediatr. Radiol."},{"key":"10.1016\/j.gene.2015.02.023_bb0120","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.cccn.2004.04.009","article-title":"Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper","volume":"347","author":"Chamoles","year":"2004","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.gene.2015.02.023_bb0200","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.jpeds.2009.03.015","article-title":"Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease","volume":"155","author":"Chen","year":"2009","journal-title":"J. Pediatr."},{"key":"10.1016\/j.gene.2015.02.023_bb0065","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1002\/mus.22202","article-title":"Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation","volume":"44","author":"Dubrovsky","year":"2011","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.gene.2015.02.023_bb0045","first-page":"91","article-title":"Non-muscle involvement in late-onset glycogenosis II","volume":"32","author":"Filosto","year":"2013","journal-title":"Acta Myol."},{"key":"10.1016\/j.gene.2015.02.023_bb0150","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s10545-006-0265-4","article-title":"Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders","volume":"29","author":"Gelb","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.gene.2015.02.023_bb0040","doi-asserted-by":"crossref","first-page":"2139","DOI":"10.1212\/01.WNL.0000165979.46537.56","article-title":"Disease severity in children and adults with Pompe disease related to age and disease duration","volume":"64","author":"Hagemans","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2015.02.023_bb0050","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1093\/brain\/awh384","article-title":"Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients","volume":"128","author":"Hagemans","year":"2005","journal-title":"Brain"},{"key":"10.1016\/j.gene.2015.02.023_bb0060","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1007\/s00415-006-0434-2","article-title":"Fatigue: an important feature of late-onset Pompe disease","volume":"254","author":"Hagemans","year":"2007","journal-title":"J. Neurol."},{"key":"10.1016\/j.gene.2015.02.023_bb0300","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1002\/humu.1380020406","article-title":"Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II","volume":"2","author":"Hermans","year":"1993","journal-title":"Hum. Mutat."},{"issue":"Pt 3","key":"10.1016\/j.gene.2015.02.023_bb0305","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1042\/bj2890687","article-title":"The conservative substitution Asp-645\u2013>Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II","volume":"289","author":"Hermans","year":"1993","journal-title":"Biochem. J."},{"key":"10.1016\/j.gene.2015.02.023_bb0290","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/humu.10286","article-title":"Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype\u2013phenotype correlation in glycogen storage disease type II","volume":"23","author":"Hermans","year":"2004","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2015.02.023_bb0210","first-page":"3389","article-title":"Glycogen Storage Disease Type II: Acid Alpha-glucosidase (Acid Maltase) Deficiency","author":"Hirschhorn","year":"2001"},{"key":"10.1016\/j.gene.2015.02.023_bb0235","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1007\/s00431-006-0315-9","article-title":"Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease","volume":"166","author":"Hoeksma","year":"2007","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.gene.2015.02.023_bb0030","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1097\/01.gim.0000204462.42910.b8","article-title":"Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome","volume":"8","author":"Howell","year":"2006","journal-title":"Genet. Med."},{"key":"10.1016\/j.gene.2015.02.023_bb0295","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1093\/hmg\/3.7.1081","article-title":"A de novo 13nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)","volume":"3","author":"Huie","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0315","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1093\/hmg\/3.12.2231","article-title":"Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (\u221213T\u2013>G) mutation in a majority of patients and a novel IVS10 (+1GT\u2013>CT) mutation","volume":"3","author":"Huie","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0385","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1111\/j.1469-1809.1996.tb00433.x","article-title":"Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4)","volume":"60","author":"Huie","year":"1996","journal-title":"Ann. Hum. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0335","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1086\/339691","article-title":"Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II","volume":"70","author":"Huie","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0145","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1097\/01.gim.0000217785.19262.9e","article-title":"The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease","volume":"8","author":"Jack","year":"2006","journal-title":"Genet. Med."},{"key":"10.1016\/j.gene.2015.02.023_bb0160","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.ymgme.2006.12.006","article-title":"Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots","volume":"90","author":"Kallwass","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2015.02.023_bb0005","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","article-title":"Pompe disease diagnosis and management guideline","volume":"8","author":"Kishnani","year":"2006","journal-title":"Genet. Med."},{"key":"10.1016\/j.gene.2015.02.023_bb0020","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.jpeds.2005.11.033","article-title":"A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease","volume":"148","author":"Kishnani","year":"2006","journal-title":"J. Pediatr."},{"key":"10.1016\/j.gene.2015.02.023_bb0090","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.jpeds.2006.02.035","article-title":"Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease","volume":"149","author":"Kishnani","year":"2006","journal-title":"J. Pediatr."},{"key":"10.1016\/j.gene.2015.02.023_bb0080","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1212\/01.wnl.0000251268.41188.04","article-title":"Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease","volume":"68","author":"Kishnani","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2015.02.023_bb0075","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1203\/PDR.0b013e3181b24e94","article-title":"Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease","volume":"66","author":"Kishnani","year":"2009","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.gene.2015.02.023_bb0070","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1055\/s-2005-837543","article-title":"Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study","volume":"36","author":"Klinge","year":"2005","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.gene.2015.02.023_bb0350","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/j.nmd.2004.02.012","article-title":"A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn","volume":"14","author":"Kroos","year":"2004","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.gene.2015.02.023_bb0135","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1212\/01.wnl.0000252798.25690.76","article-title":"Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype","volume":"68","author":"Kroos","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2015.02.023_bb0330","doi-asserted-by":"crossref","first-page":"E13","DOI":"10.1002\/humu.20745","article-title":"Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating","volume":"29","author":"Kroos","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2015.02.023_bb0410","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/ejhg.2008.34","article-title":"p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?","volume":"16","author":"Kroos","year":"2008","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0225","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/ajmg.c.31318","article-title":"The genotype\u2013phenotype correlation in Pompe disease","volume":"160","author":"Kroos","year":"2012","journal-title":"Am. J. Med. Genet. C: Semin. Med. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0280","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1002\/humu.22108","article-title":"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","volume":"33","author":"Kroos","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2015.02.023_bb0415","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.ymgme.2009.03.004","article-title":"High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population","volume":"97","author":"Kumamoto","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2015.02.023_bb0010","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1212\/WNL.55.8.1122","article-title":"Juvenile and adult-onset acid maltase deficiency in France: genotype\u2013phenotype correlation","volume":"55","author":"Laforet","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2015.02.023_bb0355","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1212\/01.WNL.0000048661.95327.BF","article-title":"Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene","volume":"60","author":"Lam","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2015.02.023_bb0180","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/BF01799482","article-title":"Pompe's disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity","volume":"10","author":"Lin","year":"1987","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.gene.2015.02.023_bb0265","first-page":"440","article-title":"Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower \u201caffinity\u201d for glycogen (GAA 2) and transient gene expression in deficient cells","volume":"47","author":"Martiniuk","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0270","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1089\/dna.1990.9.85","article-title":"Sequence of the cDNA and 5\u2032-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences","volume":"9","author":"Martiniuk","year":"1990","journal-title":"DNA Cell Biol."},{"key":"10.1016\/j.gene.2015.02.023_bb0185","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/(SICI)1096-8628(19980827)79:1<69::AID-AJMG16>3.0.CO;2-K","article-title":"Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease","volume":"79","author":"Martiniuk","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0310","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.ymgme.2007.07.006","article-title":"Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II","volume":"92","author":"McCready","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2015.02.023_bb0195","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1006\/mgme.1998.2800","article-title":"Altered trafficking and turnover of LAMP-1 in Pompe disease-affected cells","volume":"66","author":"Meikle","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2015.02.023_bb0255","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/1746-1596-5-65","article-title":"Reference values for lysosomal enzymes activities using dried blood spots samples \u2014 a Brazilian experience","volume":"5","author":"Muller","year":"2010","journal-title":"Diagn. Pathol."},{"key":"10.1016\/j.gene.2015.02.023_bb0380","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1111\/j.1469-1809.1982.tb00700.x","article-title":"Extension of human acid alpha-glucosidase polymorphism by isoelectric focusing in polyacrylamide gel","volume":"46","author":"Nickel","year":"1982","journal-title":"Ann. Hum. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0125","doi-asserted-by":"crossref","first-page":"1881","DOI":"10.1007\/s00415-009-5219-y","article-title":"Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations","volume":"256","author":"Oba-Shinjo","year":"2009","journal-title":"J. Neurol."},{"key":"10.1016\/j.gene.2015.02.023_bb0130","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.nmd.2006.09.004","article-title":"Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations","volume":"17","author":"Palmer","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.gene.2015.02.023_bb0365","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1038\/sj.mt.6300074","article-title":"Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease","volume":"15","author":"Parenti","year":"2007","journal-title":"Mol. Ther."},{"key":"10.1016\/j.gene.2015.02.023_bb0140","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.jns.2006.09.012","article-title":"Two new missense mutations of GAA in late onset glycogen storage disease type II","volume":"251","author":"Park","year":"2006","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.gene.2015.02.023_bb0340","first-page":"67","article-title":"Molecular genetics of late onset glycogen storage disease II in Italy","volume":"26","author":"Pittis","year":"2007","journal-title":"Acta Myol."},{"key":"10.1016\/j.gene.2015.02.023_bb0370","doi-asserted-by":"crossref","first-page":"E27","DOI":"10.1002\/humu.20753","article-title":"Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease","volume":"29","author":"Pittis","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2015.02.023_bb0400","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1093\/hmg\/5.7.995","article-title":"A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II)","volume":"5","author":"Raben","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0220","doi-asserted-by":"crossref","first-page":"145","DOI":"10.2174\/1566524024605789","article-title":"Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease)","volume":"2","author":"Raben","year":"2002","journal-title":"Curr. Mol. Med."},{"key":"10.1016\/j.gene.2015.02.023_bb0275","doi-asserted-by":"crossref","first-page":"S61","DOI":"10.1002\/mus.880181414","article-title":"Glycogenosis type II (acid maltase deficiency)","volume":"3","author":"Reuser","year":"1995","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.gene.2015.02.023_bb0100","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.nurt.2008.08.009","article-title":"Therapeutic approaches in glycogen storage disease type II\/Pompe disease","volume":"5","author":"Schoser","year":"2008","journal-title":"Neurotherapeutics"},{"key":"10.1016\/j.gene.2015.02.023_bb0390","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<306::AID-HUMU8>3.0.CO;2-S","article-title":"Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect","volume":"11","author":"Shieh","year":"1998","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2015.02.023_bb0105","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s00415-009-5275-3","article-title":"Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial","volume":"257","author":"Strothotte","year":"2010","journal-title":"J. Neurol."},{"key":"10.1016\/j.gene.2015.02.023_bb0405","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1007\/s10038-007-0191-9","article-title":"Structural and biochemical studies on Pompe disease and a \u201cpseudodeficiency of acid alpha-glucosidase\u201d","volume":"52","author":"Tajima","year":"2007","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0230","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/jhg.2012.32","article-title":"New mutations in the GLA gene in Brazilian families with Fabry disease","volume":"57","author":"Turaca","year":"2012","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2015.02.023_bb0115","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.nmd.2008.04.009","article-title":"Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease","volume":"18","author":"van Capelle","year":"2008","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.gene.2015.02.023_bb0095","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1016\/j.nmd.2010.07.277","article-title":"Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study","volume":"20","author":"van Capelle","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.gene.2015.02.023_bb0085","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/S0140-6736(00)02533-2","article-title":"Recombinant human alpha-glucosidase from rabbit milk in Pompe patients","volume":"356","author":"Van den Hout","year":"2000","journal-title":"Lancet"},{"key":"10.1016\/j.gene.2015.02.023_bb0110","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1056\/NEJMoa0909859","article-title":"A randomized study of alglucosidase alfa in late-onset Pompe's disease","volume":"362","author":"van der Ploeg","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.gene.2015.02.023_bb0320","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1007\/s00415-008-0714-0","article-title":"Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II","volume":"255","author":"Wan","year":"2008","journal-title":"J. Neurol."},{"key":"10.1016\/j.gene.2015.02.023_bb0170","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1590\/0004-282X20130022","article-title":"Muscle biopsy in Pompe disease","volume":"71","author":"Werneck","year":"2013","journal-title":"Arq. Neuropsiquiatr."},{"key":"10.1016\/j.gene.2015.02.023_bb0165","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ymgme.2007.09.006","article-title":"Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting","volume":"93","author":"Winchester","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2015.02.023_bb0055","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1007\/s00415-005-0922-9","article-title":"The natural course of non-classic Pompe's disease; a review of 225 published cases","volume":"252","author":"Winkel","year":"2005","journal-title":"J. Neurol."},{"key":"10.1016\/j.gene.2015.02.023_bb0395","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1002\/ana.410380316","article-title":"Genotype\u2013phenotype correlation in adult-onset acid maltase deficiency","volume":"38","author":"Wokke","year":"1995","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.gene.2015.02.023_bb0015","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1002\/mus.21025","article-title":"Clinical features of late-onset Pompe disease: a prospective cohort study","volume":"38","author":"Wokke","year":"2008","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.gene.2015.02.023_bb0155","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1097\/01.gim.0000217781.66786.9b","article-title":"Comparison of maltose and acarbose as inhibitors of maltase\u2013glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease","volume":"8","author":"Zhang","year":"2006","journal-title":"Genet. Med."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111915001584?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111915001584?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,5,18]],"date-time":"2025-05-18T21:57:31Z","timestamp":1747605451000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111915001584"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4]]},"references-count":78,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["S0378111915001584"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2015.02.023","relation":{},"ISSN":["0378-1119"],"issn-type":[{"type":"print","value":"0378-1119"}],"subject":[],"published":{"date-parts":[[2015,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel GAA mutations in patients with Pompe disease","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2015.02.023","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}