{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T17:45:44Z","timestamp":1759599944275},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,8,1]],"date-time":"2006-08-01T00:00:00Z","timestamp":1154390400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2006,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We present seven cases of Pompe disease (McKusick 232300; glycogen storage disease type II; acid maltase deficiency) from Greece. The onset of symptoms varied from early childhood to late adulthood, and the patients had quite variable duration of disease. All but one of them had muscle weakness and all had mildly to highly elevated serum creatine kinase. The diagnosis in all cases was confirmed by the finding of acid \u03b1\u2010glucosidase (EC 3.2.1.3\/20) deficiency in cultured skin fibroblasts. Thirteen mutant alleles were identified and nine different pathogenic mutations were encountered. Four were new: c.2071_2072insAGCCG leads to frameshift and total loss of function; c.1856G &gt; A (p.Ser619Asn) leads to 90\u201395% loss of function; and the splice\u2010site mutations c.1552\u22123C &gt; G and c.2331+4A &gt; G reduce the number of correct splicing events by more than 90%. The splice\u2010site mutation c.\u201032\u201013T &gt; G (IVS1\u201013T &gt; G) was encountered four times and seems equally common among Greek and other caucasians. The other mutations: c.925G &gt; A (p.Gly309Arg), c.[307T &gt; G; 271G &gt; A] (p.Cys103Gly; Asp91Asn), c.271del and c.1655T &gt; C (p.Leu552Pro) have been reported earlier. Our study highlights the heterogeneity of Pompe disease in Greece and provides tools for diagnosis and carrier detection.<\/jats:p>","DOI":"10.1007\/s10545-006-0280-5","type":"journal-article","created":{"date-parts":[[2006,7,12]],"date-time":"2006-07-12T04:46:46Z","timestamp":1152679606000},"page":"556-563","source":"Crossref","is-referenced-by-count":14,"title":["Seven cases of Pompe disease from Greece"],"prefix":"10.1002","volume":"29","author":[{"given":"M.","family":"Kroos","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Manta","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Mavridou","sequence":"additional","affiliation":[{"name":"Department of Enzymology and Cellular Function Institute of Child Health Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Muntoni","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Hammersmith Hospital London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Halley","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"van den Helm","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Zaifeiriou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Thessaloniki Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"van der Ploeg","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases and Genetics Erasmus MC\u2010Sophia Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Reuser","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Michelakakis","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.4.851"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(02)00413-7"},{"key":"e_1_2_1_4_1","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 CF","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","first-page":"1521","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Chen Y\u2010T","year":"2001"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1147-1"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1997.7811"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:3<209::AID-HUMU5>3.0.CO;2-C"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10286"},{"key":"e_1_2_1_10_1","first-page":"85","article-title":"Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally \u201ccommon\u201d in white populations [letter; 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