{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T16:02:47Z","timestamp":1649174567004},"reference-count":16,"publisher":"FapUNIFESP (SciELO)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2013,5]]},"DOI":"10.1590\/0004-282x20130035","type":"journal-article","created":{"date-parts":[[2013,8,14]],"date-time":"2013-08-14T20:26:47Z","timestamp":1376512007000},"page":"273-274","source":"Crossref","is-referenced-by-count":0,"title":["Pompe disease: further challenges to pursue"],"prefix":"10.1590","volume":"71","author":[{"given":"Suely Kazue Nagahashi","family":"Marie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1016\/j.jpeds.2010.11.053","article-title":"Later-onset Pompe disease: early detection and early treatment initiation enabled by new born screening","volume":"158","author":"Chien YH","year":"2011","journal-title":"J Pediatr"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ymgme.2009.08.003","article-title":"Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants","volume":"99","author":"Kishnani PS","year":"2010","journal-title":"Mol Genet Metab"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"e448","DOI":"10.1542\/peds.113.5.e448","article-title":"Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk","volume":"113","author":"Van den Hout JM","year":"2004","journal-title":"Pediatrics"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1002\/ana.20019","article-title":"Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up","volume":"55","author":"Winkel LPF","year":"2004","journal-title":"Ann Neurol"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1056\/NEJMc0806809","article-title":"Elimination of antibodies to recombinant enzyme in Pompe's disease","volume":"360","author":"Mendelsohn NJ","year":"2009","journal-title":"N Engl J Med"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1590\/0004-282X20130022","article-title":"Muscle biopsy in Pompe disease","volume":"71","author":"Werneck LC","year":"2013","journal-title":"Arq Neuropsiquiatr"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/mus.20896","article-title":"Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease","volume":"37","author":"Drost MR","year":"2008","journal-title":"Muscle Nerve"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.ymgme.2003.08.022","article-title":"Enzyme replacement therapy in the mouse model of Pompe disease","volume":"80","author":"Raben N","year":"2003","journal-title":"Mol Genet Metab"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ymthe.2006.08.009","article-title":"Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease","volume":"14","author":"Fukuda T","year":"2006","journal-title":"Mol Ther"},{"key":"ref10","first-page":"546","author":"Raben N","year":"2007"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1007\/s00415-012-6636-x","article-title":"Enzyme replacement therapy in lateonset Pompe disease: a systematic literature review","volume":"260","author":"Toscano A","year":"2013","journal-title":"J Neurol"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1590\/S0004-282X2010000200008","article-title":"Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease","volume":"68","author":"Grzesiuk AK","year":"2010","journal-title":"Arq Neuropsiquiatr"},{"key":"ref13","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 SM","year":"2009","journal-title":"J Neurol"},{"key":"ref14","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 M","year":"2008","journal-title":"Hum Mutat"},{"key":"ref15","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 M","year":"2012","journal-title":"Hum Mutat"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.ymgme.2012.05.004","article-title":"Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients","volume":"106","author":"Palermo AT","year":"2012","journal-title":"Mol Genet Metab"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/anp\/v71n5\/0004-282X-anp-71-05-273.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,23]],"date-time":"2017-05-23T05:59:30Z","timestamp":1495519170000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-282X2013000500273&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["S0004-282X2013000500273"],"URL":"https:\/\/doi.org\/10.1590\/0004-282x20130035","relation":{},"ISSN":["0004-282X"],"issn-type":[{"value":"0004-282X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5]]}}}