{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T14:27:47Z","timestamp":1769610467015,"version":"3.49.0"},"reference-count":5,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,3,4]],"date-time":"2016-03-04T00:00:00Z","timestamp":1457049600000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pompe disease (OMIM no 232300) is an autosomal recessive inherited metabolic disorder, caused by glycogen accumulation in the lysosome due to deficiency of the lysosomal acid 03B1\u2010glucosidase enzyme. Here we report the case of an 8\u2010month\u2010old girl of consanguineous Turkish parents, who was diagnosed with the infantile form of Pompe disease. Two different uncommon homozygote mutations (c.32\u201013\u2009T\u2009&gt;\u2009G homozygote and c.1856G\u2009&gt;\u2009A homozygote) were detected. The patient had a more progressive clinical course than expected. We emphasize the rare combination of genetic mutations in this Turkish family with Pompe disease.<\/jats:p>","DOI":"10.1111\/ped.12873","type":"journal-article","created":{"date-parts":[[2016,3,6]],"date-time":"2016-03-06T01:37:35Z","timestamp":1457228255000},"page":"241-243","source":"Crossref","is-referenced-by-count":3,"title":["Combination of two different homozygote mutations in Pompe disease"],"prefix":"10.1111","volume":"58","author":[{"given":"Alev","family":"Arslan","sequence":"first","affiliation":[{"name":"Division of Pediatric Cardiology Kayseri Education and Research Hospital  Kayseri Turkey"},{"name":"Department of Pediatrics Division of Pediatric Cardiology Adana Application and Research Hospital, Baskent University  Adana Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hatice Gamze","family":"Poyrazo\u011flu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology Kayseri Education and Research Hospital  Kayseri Turkey"},{"name":"Department of Pediatrics, Division of Pediatric Neurology F\u0131rat University Medical Faculty  Elazig Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aslihan","family":"Kiraz","sequence":"additional","affiliation":[{"name":"Departments of Genetics Kayseri Education and Research Hospital  Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alper","family":"\u00d6zcan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kayseri Education and Research Hospital  Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Halid","family":"I\u015f\u0131k","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kayseri Education and Research Hospital  Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayse Bet\u00fcl","family":"Ergul","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kayseri Education and Research Hospital  Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neslihan \u00d6nenli","family":"Mungan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition \u00c7ukurova University Medical Faculty  Adana Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berthold","family":"Streubel","sequence":"additional","affiliation":[{"name":"Human Genetics Generations Laboratory  Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[{"name":"Human Genetics Intergen Laboratory  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasemin","family":"Altuner Torun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kayseri Education and Research Hospital  Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,3,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000252798.25690.76"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt987"},{"key":"e_1_2_6_5_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. 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