{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T05:47:44Z","timestamp":1696571264943},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2006,12,1]],"date-time":"2006-12-01T00:00:00Z","timestamp":1164931200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nervenarzt"],"published-print":{"date-parts":[[2006,12]]},"DOI":"10.1007\/s00115-006-2184-x","type":"journal-article","created":{"date-parts":[[2006,11,14]],"date-time":"2006-11-14T13:44:58Z","timestamp":1163511898000},"page":"1487-1491","source":"Crossref","is-referenced-by-count":5,"title":["Sp\u00e4tmanifestation einer Polyglykosank\u00f6rpermyopathie"],"prefix":"10.1007","volume":"77","author":[{"given":"M.","family":"Jeub","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Kappes-Horn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Kornblum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"2184_CR1","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1172\/JCI118517","volume":"97","author":"Bao","year":"1996","unstructured":"Bao Y, Kishnani P, Wu JY et al. (1996) Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest 97:941\u2013948","journal-title":"J Clin Invest"},{"key":"2184_CR2","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/0960-8966(95)00031-3","volume":"6","author":"Bornemann","year":"1996","unstructured":"Bornemann A, Besser R, Shin YS et al. (1996) A mild adult myopathic variant of type IV glycogenosis. Neuromuscul Disord 6:95\u201396","journal-title":"Neuromuscul Disord"},{"key":"2184_CR3","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1001\/archneur.1971.00490020089011","volume":"25","author":"Brunberg","year":"1971","unstructured":"Brunberg JA, McCormick WF, Schochet SS (1971) Type III glycogenosis: An adult with diffuse weakness and muscle wasting. Arch Neurol 25:171\u2013178","journal-title":"Arch Neurol"},{"key":"2184_CR4","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/ana.410330114","volume":"33","author":"Bruno","year":"1993","unstructured":"Bruno C, Servidei S, Shanske S et al. (1993) Glycogen branching enzyme deficiency in adult polyglycosan body disease. Ann Neurol 33:88\u201393","journal-title":"Ann Neurol"},{"key":"2184_CR5","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1212\/01.WNL.0000138429.11433.0D","volume":"63","author":"Bruno","year":"2004","unstructured":"Bruno C, van Diggelen OP, Cassandrini D et al. (2004) Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology 63:1053\u20131058","journal-title":"Neurology"},{"key":"2184_CR6","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1002\/mus.880140203","volume":"14","author":"Cafferty","year":"1991","unstructured":"Cafferty MS, Lovelace RE, Hays AP et al. (1991) Polyglycosan body disease. Muscle Nerve 14:102\u2013107","journal-title":"Muscle Nerve"},{"key":"2184_CR7","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1001\/archneur.1984.04050210025008","volume":"41","author":"Cornelio","year":"1984","unstructured":"Cornelio F, Bresolin N, Singer PA et al. (1984) Clinical varieties of neuromuscular disease in debrancher deficiency. Arch Neurol 41:1027\u20131032","journal-title":"Arch Neurol"},{"key":"2184_CR8","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1002\/ana.410050504","volume":"5","author":"DiMauro","year":"1979","unstructured":"DiMauro S, Hartwig GB, Hays A et al. (1979) Debrancher deficiency: neuromuscular disorder in 5 adults. Ann Neurol 5:422\u2013436","journal-title":"Ann Neurol"},{"key":"2184_CR9","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1007\/s10038-005-0291-3","volume":"50","author":"Endo","year":"2005","unstructured":"Endo Y, Fateen E, Aoyama Y et al. (2005) Molecular characterization of Egyptian patients with glycogen storage disease type IIIa. J Hum Genet 50:538\u2013542","journal-title":"J Hum Genet"},{"key":"2184_CR10","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1002\/mus.10520","volume":"29","author":"Klein","year":"2004","unstructured":"Klein CJ, Boes CJ, Chapin JE et al. (2004) Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve 29:323\u2013328","journal-title":"Muscle Nerve"},{"key":"2184_CR11","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1002\/ana.410300505","volume":"30","author":"Lossos","year":"1991","unstructured":"Lossos A, Barash V, Soffer D et al. (1991) Hereditary branching enzyme dysfunction in adult polyglycosan body disease: a possible metabolic cause in two patients. Ann Neurol 30:655\u2013662","journal-title":"Ann Neurol"},{"key":"2184_CR12","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1002\/ana.410440604","volume":"44","author":"Lossos","year":"1998","unstructured":"Lossos A, Meiner Z, Barash V et al. (1998) Adult polyglycosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol 44:867\u2013872","journal-title":"Ann Neurol"},{"key":"2184_CR13","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1002\/humu.9426","volume":"27","author":"Lucchiari","year":"2006","unstructured":"Lucchiari S, Pagliarani S, Salani S et al. (2006) Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. Hum Mutat 27:600\u2013601","journal-title":"Hum Mutat"},{"key":"2184_CR14","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/humu.9177","volume":"22","author":"Lucchiari","year":"2003","unstructured":"Lucchiari S, Donati MA, Melis D et al. (2003) Mutational analysis of the AGL gene: five novel mutations in GSD III patients. Hum Mutat 22:377","journal-title":"Hum Mutat"},{"key":"2184_CR15","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1212\/WNL.43.4.785","volume":"43","author":"McDonald","year":"1993","unstructured":"McDonald TD, Faust PL, Bruno C et al. (1993) Polyglycosan body disease simulating amyotrophic lateral sclerosis. Neurology 43:785\u2013790","journal-title":"Neurology"},{"key":"2184_CR16","first-page":"105","volume":"103","author":"McMaster","year":"1979","unstructured":"McMaster KR, Powers JM, Hennigar GR Jr. et al. (1979) Nervous system involvement in type IV glycogenosis. Arch Pathol Lab Med 103:105\u2013111","journal-title":"Arch Pathol Lab Med"},{"key":"2184_CR17","doi-asserted-by":"crossref","first-page":"1698","DOI":"10.1093\/oxfordjournals.eurheartj.a060797","volume":"16","author":"Nase","year":"1995","unstructured":"Nase S, Kunze KP, Sigmund M et al. (1995) A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy. Eur Heart J 16:1698\u20131704","journal-title":"Eur Heart J"},{"key":"2184_CR18","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1038\/sj.ejhg.5200632","volume":"9","author":"Santer","year":"2001","unstructured":"Santer R, Kinner M, Steuerwald U et al. (2001) Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. Eur J Hum Genet 9:388\u2013391","journal-title":"Eur J Hum Genet"},{"key":"2184_CR19","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0022-3476(87)80341-4","volume":"11","author":"Servidei","year":"1987","unstructured":"Servidei S, Riepe RE, Langston C et al. (1987) Severe cardiopathy in branching enzyme deficiency. J Pediatr 11:51\u201356","journal-title":"J Pediatr"},{"key":"2184_CR20","doi-asserted-by":"crossref","first-page":"167","DOI":"10.2174\/1566524024605752","volume":"2","author":"Shen","year":"2002","unstructured":"Shen JJ, Chen YT (2002) Molecular characterization of glycogen storage disease type III. Curr Mol Med 2:167\u2013175","journal-title":"Curr Mol Med"},{"key":"2184_CR21","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1172\/JCI118799","volume":"98","author":"Shen","year":"1996","unstructured":"Shen J, Bao Y, Liu HM et al. (1996) Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J Clin Invest 98:352\u2013357","journal-title":"J Clin Invest"},{"key":"2184_CR22","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1007\/BF01799498","volume":"13","author":"Smit","year":"1990","unstructured":"Smit GP, Fernandes J, Leonard JV et al. (1990) The long-term outcome of patients with glycogen storage diseases. J Inherit Metab Dis 13:411\u2013418","journal-title":"J Inherit Metab Dis"},{"key":"2184_CR23","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/S0022-3476(72)80144-6","volume":"80","author":"Zellweger","year":"1972","unstructured":"Zellweger H, Mueller S, Ionasescu V et al. (1972) Glycogenosis IV. A new cause of infantile hypotonia. J Pediatr 80:842\u2013844","journal-title":"J Pediatr"}],"container-title":["Der Nervenarzt"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00115-006-2184-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00115-006-2184-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00115-006-2184-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,23]],"date-time":"2019-05-23T05:08:25Z","timestamp":1558588105000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00115-006-2184-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12]]},"references-count":23,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["2184"],"URL":"https:\/\/doi.org\/10.1007\/s00115-006-2184-x","relation":{},"ISSN":["0028-2804","1433-0407"],"issn-type":[{"value":"0028-2804","type":"print"},{"value":"1433-0407","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,12]]}}}