{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T07:28:20Z","timestamp":1702452500418},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,12,1]],"date-time":"2005-12-01T00:00:00Z","timestamp":1133395200000},"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":[[2005,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We performed mutation analysis in 12 Hungarian type I glycogen storage disease (GSD I) patients in order to determine the mutation spectrum. All patients were clinically classified as GSD Ia. Nine patients carried biallelic <jats:italic>G6PC<\/jats:italic> mutations (p.Q27fsX35, p.D38V, p.W70X, p.K76N, p.W77R, p.R83C, p.E110Q, p.G222R), with E110Q reported only in Hungary. However, three patients displayed two common <jats:italic>G6PT1<\/jats:italic> (<jats:italic>SLC37A4<\/jats:italic>) mutations (p.L348fsX400, p.C183R) which were originally described in association with GSD Inon\u2010a. Review of the literature and our data show that <jats:italic>G6PT1<\/jats:italic> mutations are not associated with neutropenia and related clinical findings in approximately 10% of these cases. Homozygosity for the truncating <jats:italic>G6PT1<\/jats:italic> mutation p.L348fsX400 can be observed with and without neutropenia, indicating that one or more modifiers of the action of <jats:italic>G6PT1<\/jats:italic> exist. Our data are suitable to provide DNA\u2010based and thus noninvasive confirmation of diagnosis in Hungarian patients with this disorder.<\/jats:p>","DOI":"10.1007\/s10545-005-0186-7","type":"journal-article","created":{"date-parts":[[2006,1,25]],"date-time":"2006-01-25T09:35:29Z","timestamp":1138181729000},"page":"939-944","source":"Crossref","is-referenced-by-count":5,"title":["Mutation spectrum of type I glycogen storage disease in Hungary"],"prefix":"10.1002","volume":"28","author":[{"given":"G.","family":"Miltenberger\u2010Miltenyi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Molecular and Clinical Pharmacology Innsbruck Medical University Schoepfstrasse 41 Innsbruck A\u20106020 Austria"}]},{"given":"L.","family":"Szonyi","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics Semmelweis University Budapest Hungary"}]},{"given":"L.","family":"Balogh","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics Semmelweis University Budapest Hungary"}]},{"given":"G.","family":"Utermann","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Molecular and Clinical Pharmacology Innsbruck Medical University Schoepfstrasse 41 Innsbruck A\u20106020 Austria"}]},{"given":"A. R.","family":"Janecke","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Molecular and Clinical Pharmacology Innsbruck Medical University Schoepfstrasse 41 Innsbruck A\u20106020 Austria"}]}],"member":"311","published-online":{"date-parts":[[2005,12]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1521","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Chen YT","year":"2001"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.25.3199"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg263"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605798"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30232"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(99)01248-X"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072085"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005339616074"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3179"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200007)16:1<89::AID-HUMU17>3.0.CO;2-A"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.107472"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8211187"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02679989"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-005-1657-4"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971031)72:3<286::AID-AJMG6>3.0.CO;2-P"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000484762"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051281"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110486200"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005495131118"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1013956611607"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000042987.43395.c6"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200366"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.105232"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200009000-00011"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0186-7","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0186-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T02:16:46Z","timestamp":1694744206000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-0186-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12]]},"references-count":24,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2005,12]]}},"alternative-id":["10.1007\/s10545-005-0186-7"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-0186-7","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,12]]}}}