{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T17:30:52Z","timestamp":1764783052313},"reference-count":23,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2008,4,4]],"date-time":"2008-04-04T00:00:00Z","timestamp":1207267200000},"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":[[2008,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report a 13\u2010year\u2010old boy with multisystem involvement secondary to accumulation of amylopectin\u2010like material. He was born to consanguineous parents at full term without any complications and his maternal perinatal history was uneventful. His parents were cousins. He had normal growth and development except for his weight. His sister died from an unexplained cardiomyopathy at the age of 8 years. Our patient's initial symptom was severe heart failure. Since he also had a complaint of muscle weakness, electromyography was performed which showed muscle involvement. The diagnosis was suggested by tissue biopsy of skeletal muscle showing intracellular, basophilic, diastase\u2010resistant, periodic acid\u2013Schiff\u2010positive inclusion bodies and was confirmed by the presence of a completed branching enzyme deficiency. Similar intracytoplasmic inclusion\u2010like bodies were also found in liver biopsy, but very few in number compared with the skeletal muscle. The patient died from an intercurrent infection. Postmortem endomyocardial biopsy revealed the same intracytoplasmic inclusions as described above affecting almost all myocardial cells. Ultrastructural examination of liver biopsy was nondiagnostic; however, myocardium showed prominent, large, intracytoplasmic deposits. Glycogen branching enzyme gene sequence was normal, andthus classical branching enzyme deficiency was excluded. Our patient represents the first molecular studyperformed on a patient in whom there was multiplesystem involvement secondary to accumulation of amylopectin\u2010like material. We suggest that this is an as yet undefined and different phenotype of glycogen storage disease associated with multisystemic involvement.<\/jats:p>","DOI":"10.1007\/s10545-008-0819-8","type":"journal-article","created":{"date-parts":[[2008,4,7]],"date-time":"2008-04-07T01:29:34Z","timestamp":1207531774000},"page":"255-259","source":"Crossref","is-referenced-by-count":2,"title":["Multisystem involvement in a patient due to accumulation of amylopectin\u2010like material with diminished branching enzyme activity"],"prefix":"10.1002","volume":"31","author":[{"given":"T. F.","family":"Eminoglu","sequence":"first","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition Gazi University Hospital Besevler Ankara 06510 Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Tumer","sequence":"additional","affiliation":[{"name":"Department of Metabolism and Nutrition Gazi University Hospital Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Okur","sequence":"additional","affiliation":[{"name":"Department of Metabolism and Nutrition Gazi University Hospital Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Olgunturk","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Gazi University Hospital Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Hasanoglu","sequence":"additional","affiliation":[{"name":"Department of Metabolism and Nutrition Gazi University Hospital Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. I.","family":"Gonul","sequence":"additional","affiliation":[{"name":"Department of Pathology Gazi University Hospital Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Dalgic","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology Gazi University Hospital Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,4,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880030602"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005568507267"},{"key":"e_1_2_5_4_1","first-page":"11","article-title":"Familial cirrhosis of the liver with storage of abnormal glycogen","volume":"5","author":"Andersen DH","year":"1956","journal-title":"Lab Invest"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0214571"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118517"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.56.2.725"},{"issue":"1","key":"e_1_2_5_8_1","first-page":"75","article-title":"Neuromuscular forms of glycogen branching enzyme deficiency","volume":"26","author":"Bruno C","year":"2007","journal-title":"Acta Myol"},{"key":"e_1_2_5_9_1","first-page":"1521","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Chen YT","year":"2001"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.1.51"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2005.00282.x"},{"key":"e_1_2_5_12_1","first-page":"1124","article-title":"Severe cardiomyopathy revealing amylopectinosis. Two cases in adolescents from the same family","volume":"23","author":"De La Blanchardiere A","year":"1994","journal-title":"Presse Med"},{"key":"e_1_2_5_13_1","first-page":"201","volume-title":"The Molecular and Genetic Basis of Neurological Disease","author":"DiMauro S","year":"1997"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840080219"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799348"},{"issue":"3","key":"e_1_2_5_16_1","first-page":"105","article-title":"Nervous system involvement in type IV glycogenosis","volume":"103","author":"McMaster KR","year":"1979","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605815"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.eurheartj.a060797"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.12.1739"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/103.2.315"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00334454"},{"issue":"1","key":"e_1_2_5_22_1","first-page":"837","article-title":"A study of the abnormal polysaccharide in a child with type IV glycogen storage disease [author's transl.]","volume":"38","author":"Scotto JM","year":"1981","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00294181"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)53204-X"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0819-8","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-008-0819-8","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0819-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:23:04Z","timestamp":1694751784000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-008-0819-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4,4]]},"references-count":23,"journal-issue":{"issue":"S2","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1007\/s10545-008-0819-8"],"URL":"https:\/\/doi.org\/10.1007\/s10545-008-0819-8","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,4,4]]}}}