{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:26:46Z","timestamp":1777660006605,"version":"3.51.4"},"reference-count":9,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2010,11,1]],"date-time":"2010-11-01T00:00:00Z","timestamp":1288569600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2010,12,1]]},"abstract":"<jats:p>\n                    <jats:italic toggle=\"yes\">Aim:<\/jats:italic>\n                    To describe genetic features of five unrelated Thai families with infantile-onset Pompe disease caused by mutations in the acid \u03b1-glucosidase (\n                    <jats:italic toggle=\"yes\">GAA<\/jats:italic>\n                    ) gene.\n                    <jats:italic toggle=\"yes\">Methods:<\/jats:italic>\n                    Total RNA and genomic DNA were extracted from peripheral blood leukocytes, and mutation analysis of the entire coding regions of the\n                    <jats:italic toggle=\"yes\">GAA<\/jats:italic>\n                    gene was performed in our first patient. Polymerase chain reaction-restriction fragment length polymorphism analysis was also used for a particular mutation in subsequent patients.\n                    <jats:italic toggle=\"yes\">Results:<\/jats:italic>\n                    The mutation analysis revealed that all patients harbored the same mutation, c.1935C\u2009&gt;\u2009A (p.D645E), with three being homozygotes. The p.D645E, therefore, accounted for 80% (8 out of 10 alleles) of the mutations.\n                    <jats:italic toggle=\"yes\">Conclusions:<\/jats:italic>\n                    We identified five unrelated Thai patients with infantile-onset Pompe disease with no history of consanguinity. Finding of the most common mutation, p.D645E, in this study will help facilitate prenatal diagnosis of their family members and molecular diagnosis of future suspected patients. Analysis of common mutations could be the most effective strategy in identifying\n                    <jats:italic toggle=\"yes\">GAA<\/jats:italic>\n                    mutations responsible for Pompe disease in the Thai population.\n                  <\/jats:p>","DOI":"10.1089\/gtmb.2010.0038","type":"journal-article","created":{"date-parts":[[2010,11,1]],"date-time":"2010-11-01T16:08:41Z","timestamp":1288627721000},"page":"835-837","source":"Crossref","is-referenced-by-count":10,"title":["p.D645E of Acid \u03b1-Glucosidase Is the Most Common Mutation in Thai Patients with Infantile-Onset Pompe Disease"],"prefix":"10.1177","volume":"14","author":[{"given":"Pramuk","family":"Amarinthnukrowh","sequence":"first","affiliation":[{"name":"Center of Excellence for Medical Genetics","place":["Thailand"]},{"name":"King Chulalongkorn Memorial Hospital","place":["Thailand"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siraprapa","family":"Tongkobpetch","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics","place":["Thailand"]},{"name":"King Chulalongkorn Memorial Hospital","place":["Thailand"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Apichai","family":"Kongpatanayothin","sequence":"additional","affiliation":[{"name":"Chulalongkorn University","place":["Thailand"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanya","family":"Suphapeetiporn","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics","place":["Thailand"]},{"name":"King Chulalongkorn Memorial Hospital","place":["Thailand"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vorasuk","family":"Shotelersuk","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics","place":["Thailand"]},{"name":"King Chulalongkorn Memorial Hospital","place":["Thailand"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2010,11,1]]},"reference":[{"key":"e_1_3_3_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/301788"},{"key":"e_1_3_3_3_1","first-page":"3389","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Hirschhorn R","year":"2001","unstructured":"Hirschhorn R, , Reuser AJJ. 2001. Glycogen storage disease type II (GSDII) Scriver CR, , Beaudet AL, , Sly WS, , Valle D. The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill: New York, 3389-3420."},{"key":"e_1_3_3_4_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2720493"},{"key":"e_1_3_3_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.34"},{"key":"e_1_3_3_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02185782"},{"key":"e_1_3_3_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20374"},{"key":"e_1_3_3_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(03)00267-4"},{"key":"e_1_3_3_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<306::AID-HUMU8>3.0.CO;2-S"},{"key":"e_1_3_3_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb03465.x"}],"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/gtmb.2010.0038","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2010.0038","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2010.0038","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:21:16Z","timestamp":1777447276000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/gtmb.2010.0038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,1]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,12,1]]}},"alternative-id":["10.1089\/gtmb.2010.0038"],"URL":"https:\/\/doi.org\/10.1089\/gtmb.2010.0038","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,1]]}}}