{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T17:36:17Z","timestamp":1648834577678},"reference-count":28,"publisher":"Akademiai Kiado Zrt.","issue":"39","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2011,9]]},"abstract":"<jats:p>Pompe\u2019s disease is an autosomal recessive disease caused by deficiency of acid-alpha-glucosidase. Aims and Methods: Authors analyzed the phenotype of 11 Hungarian patients with Pompe\u2019s disease and evaluated clinical parameters and response to enzyme replacement therapy during a long-term follow-up in 8 patients. Results: One patient with atypical infantile form presented with cardiomyopathy and a very slow progression of motor deficits; after 2 years of enzyme replacement therapy no disability was present at the age 6 years. Another patient was asymptomatic at the age of 2.5 years. The adult onset form was characterized by slight to prominent limb-girdle myopathy with an age of onset between 20 and 50 years. In 3 of such cases respiratory insufficiency was also present. Conclusions: Hungarian patients with Pompe\u2019s disease presented with a wide phenotypic variability ranging from atypical early childhood form with slowly progressive course to late-onset limb-girdle myopathy with variable courses. Enzyme replacement therapy resulted in significant improvement in motor and respiratory functions in most of the patients. Orv. Hetil., 2011, 152, 1569\u20131575.<\/jats:p>","DOI":"10.1556\/oh.2011.29184","type":"journal-article","created":{"date-parts":[[2011,9,16]],"date-time":"2011-09-16T07:38:06Z","timestamp":1316158686000},"page":"1569-1575","source":"Crossref","is-referenced-by-count":0,"title":["Clinical manifestation, disease course and response to enzyme replacement therapy in Hungarian patients with Pompe\u2019s disease"],"prefix":"10.1556","volume":"152","author":[{"given":"Benjamin","family":"Bereznai","sequence":"first","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Neurol\u00f3giai Klinika, Molekul\u00e1ris Neurol\u00f3giai Klinikai \u00e9s Kutat\u00e1si K\u00f6zpont, Ritka Betegs\u00e9gek K\u00f6zpontja Budapest Balassa J\u00e1nos u. 6. 1083"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Trauninger","sequence":"additional","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Neurol\u00f3giai Klinika P\u00e9cs"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilona","family":"Gy\u00f6rgy","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Gyermekgy\u00f3gy\u00e1szati Int\u00e9zet Debrecen"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"Szakszon","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Gyermekgy\u00f3gy\u00e1szati Int\u00e9zet Debrecen"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zsuzsanna","family":"Alm\u00e1ssy","sequence":"additional","affiliation":[{"name":"Heim P\u00e1l Gyermekk\u00f3rh\u00e1z Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Endre","family":"P\u00e1l","sequence":"additional","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Neurol\u00f3giai Klinika P\u00e9cs"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1gnes","family":"Herczegfalvi","sequence":"additional","affiliation":[{"name":"Heim P\u00e1l Gyermekk\u00f3rh\u00e1z Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"V\u00e1rdi Visy","sequence":"additional","affiliation":[{"name":"Pest Megyei T\u00fcd\u0151gy\u00f3gyint\u00e9zet T\u00f6r\u00f6kb\u00e1lint"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zsolt","family":"Ill\u00e9s","sequence":"additional","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Neurol\u00f3giai Klinika P\u00e9cs"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1ria Judit","family":"Moln\u00e1r","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Neurol\u00f3giai Klinika, Molekul\u00e1ris Neurol\u00f3giai Klinikai \u00e9s Kutat\u00e1si K\u00f6zpont, Ritka Betegs\u00e9gek K\u00f6zpontja Budapest Balassa J\u00e1nos u. 6. 1083"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"atypb1","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1042\/bj0860011","volume":"86","year":"1963","journal-title":"J. Biochem."},{"key":"atypb2","doi-asserted-by":"crossref","first-page":"4526","DOI":"10.1073\/pnas.76.9.4526","volume":"76","year":"1979","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"atypb3","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1042\/bj2720493","volume":"272","year":"1990","journal-title":"J. Biochem."},{"key":"atypb4","doi-asserted-by":"crossref","first-page":"E13","DOI":"10.1002\/humu.20745","volume":"29","year":"2008","journal-title":"Hum. Mutat."},{"key":"atypb5","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1542\/peds.112.2.332","volume":"112","year":"2003","journal-title":"Pediatrics"},{"key":"atypb6","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1093\/brain\/awh384","volume":"128","year":"2005","journal-title":"Brain"},{"key":"atypb7","doi-asserted-by":"crossref","first-page":"S35","DOI":"10.1016\/j.jpeds.2004.01.053","volume":"144","year":"2004","journal-title":"J. Pediatr."},{"key":"atypb8","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1212\/WNL.52.4.851","volume":"52","year":"1999","journal-title":"Neurology"},{"key":"atypb9","doi-asserted-by":"crossref","first-page":"2139","DOI":"10.1212\/01.WNL.0000165979.46537.56","volume":"64","year":"2005","journal-title":"Neurology"},{"key":"atypb10","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1183\/09031936.05.00020005","volume":"26","year":"2005","journal-title":"Eur. Respir. J."},{"key":"atypb11","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1093\/clinchem\/47.8.1378","volume":"47","year":"2001","journal-title":"Clin. Chem."},{"key":"atypb12","doi-asserted-by":"crossref","first-page":"145","DOI":"10.2174\/1566524024605789","volume":"2","year":"2002","journal-title":"Curr. Mol. Med."},{"key":"atypb13","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1002\/humu.20374","volume":"27","year":"2006","journal-title":"Hum. Mutat."},{"key":"atypb14","first-page":"299","volume":"62","year":"2009","journal-title":"Ideggy\u00f3gy. Sz."},{"key":"atypb15","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004399900075","volume":"105","year":"1999","journal-title":"Hum. Genet."},{"key":"atypb16","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/sj.ejhg.5200367","volume":"7","year":"1999","journal-title":"Eur. J. Hum. Genet."},{"key":"atypb17","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","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"atypb18","first-page":"231","volume":"62","year":"2009","journal-title":"Ideggy\u00f3gy. Sz."},{"key":"atypb19","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1007\/s00415-005-0922-9","volume":"252","year":"2005","journal-title":"J. Neurol."},{"key":"atypb20","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1212\/01.wnl.0000252798.25690.76","volume":"68","year":"2007","journal-title":"Neurology"},{"key":"atypb21","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","volume":"372","year":"2008","journal-title":"Lancet"},{"key":"atypb22","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/S0140-6736(00)02533-2","volume":"356","year":"2000","journal-title":"Lancet"},{"key":"atypb23","first-page":"155","volume":"71","year":"2008","journal-title":"Neurology"},{"key":"atypb24","doi-asserted-by":"crossref","first-page":"S25","DOI":"10.1016\/S0149-2918(08)80032-X","volume":"30","year":"2008","journal-title":"Clinical Therapeutics"},{"key":"atypb25","doi-asserted-by":"crossref","first-page":"S12","DOI":"10.1212\/WNL.0b013e31818da93f","volume":"71","year":"2008","journal-title":"Neurology"},{"key":"atypb26","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1007\/s12325-008-0086-y","volume":"25","year":"2008","journal-title":"Adv. Ther."},{"key":"atypb27","unstructured":"Trauninger A.Enzyme replacement therapy induces T-cell responses in late-onset Pompe diseaseMuscle Nerve2011"},{"key":"atypb28","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.1212\/WNL.57.7.1290","volume":"57","year":"2001","journal-title":"Neurology"}],"container-title":["Orvosi Hetilap"],"original-title":[],"language":"hu","link":[{"URL":"https:\/\/www.akademiai.com\/doi\/pdf\/10.1556\/OH.2011.29184","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,6,24]],"date-time":"2020-06-24T01:18:34Z","timestamp":1592961514000},"score":1,"resource":{"primary":{"URL":"https:\/\/akjournals.com\/doi\/10.1556\/oh.2011.29184"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9]]},"references-count":28,"journal-issue":{"issue":"39","published-print":{"date-parts":[[2011,9]]}},"alternative-id":["10.1556\/OH.2011.29184"],"URL":"https:\/\/doi.org\/10.1556\/oh.2011.29184","relation":{},"ISSN":["0030-6002","1788-6120"],"issn-type":[{"value":"0030-6002","type":"print"},{"value":"1788-6120","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9]]}}}