{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:16:04Z","timestamp":1771002964807,"version":"3.50.1"},"reference-count":42,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2007,4,1]],"date-time":"2007-04-01T00:00:00Z","timestamp":1175385600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,4,1]],"date-time":"2007-04-01T00:00:00Z","timestamp":1175385600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2007,4,1]],"date-time":"2007-04-01T00:00:00Z","timestamp":1175385600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2007,4,1]],"date-time":"2007-04-01T00:00:00Z","timestamp":1175385600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2007,4,1]],"date-time":"2007-04-01T00:00:00Z","timestamp":1175385600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2007,4,1]],"date-time":"2007-04-01T00:00:00Z","timestamp":1175385600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2007,4,1]],"date-time":"2007-04-01T00:00:00Z","timestamp":1175385600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2007,4]]},"DOI":"10.1016\/j.ymgme.2006.12.003","type":"journal-article","created":{"date-parts":[[2007,1,26]],"date-time":"2007-01-26T17:45:09Z","timestamp":1169833509000},"page":"383-392","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"title":["A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats"],"prefix":"10.1016","volume":"90","author":[{"given":"John C.","family":"Fyfe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebeccah L.","family":"Kurzhals","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle G.","family":"Hawkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoya","family":"Yuhki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Urs","family":"Giger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas J.","family":"Van Winkle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark E.","family":"Haskins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donald F.","family":"Patterson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula S.","family":"Henthorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2006.12.003_bib1","series-title":"The Metabolic & Molecular Bases of Inherited Disease","first-page":"1521","article-title":"Glycogen storage diseases","author":"Chen","year":"2001"},{"key":"10.1016\/j.ymgme.2006.12.003_bib2","first-page":"11","article-title":"Familial cirrhosis of the liver with storage of abnormal glycogen","volume":"5","author":"Andersen","year":"1956","journal-title":"Lab. Invest."},{"key":"10.1016\/j.ymgme.2006.12.003_bib3","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1073\/pnas.56.2.725","article-title":"Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis","volume":"56","author":"Brown","year":"1966","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymgme.2006.12.003_bib4","doi-asserted-by":"crossref","first-page":"177","DOI":"10.2174\/1566524024605815","article-title":"The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies","volume":"2","author":"Moses","year":"2002","journal-title":"Curr. Mol. Med."},{"key":"10.1016\/j.ymgme.2006.12.003_bib5","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1172\/JCI118517","article-title":"Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene","volume":"97","author":"Bao","year":"1996","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2006.12.003_bib6","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1212\/01.WNL.0000138429.11433.0D","article-title":"Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)","volume":"63","author":"Bruno","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2006.12.003_bib7","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.nmd.2003.12.006","article-title":"Fatal infantile neuromuscular presentation of glycogen storage disease type IV","volume":"14","author":"Tay","year":"2004","journal-title":"Neuromusc. Disord."},{"key":"10.1016\/j.ymgme.2006.12.003_bib8","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1354\/vp.36-2-157","article-title":"Amylopectinosis in fetal and neonatal quarter horses","volume":"36","author":"Render","year":"1999","journal-title":"Vet. Pathol."},{"key":"10.1016\/j.ymgme.2006.12.003_bib9","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1111\/j.1939-1676.2001.tb01593.x","article-title":"Glycogen branching enzyme deficiency in quarter horse foals","volume":"15","author":"Valberg","year":"2001","journal-title":"J. Vet. Intern. Med."},{"key":"10.1016\/j.ymgme.2006.12.003_bib10","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1007\/s00335-004-2369-1","article-title":"Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV","volume":"15","author":"Ward","year":"2004","journal-title":"Mamm. Genome"},{"key":"10.1016\/j.ymgme.2006.12.003_bib11","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1203\/00006450-199212000-00020","article-title":"Glycogen storage disease type IV: inherited deficiency of branching enzyme activity in cats","volume":"32","author":"Fyfe","year":"1992","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2006.12.003_bib12","first-page":"5","article-title":"A case presentation and discussion of type IV glycogen storage disease in a Norwegian forest cat","volume":"7","author":"Coates","year":"1996","journal-title":"Prog. Vet. Neurol."},{"key":"10.1016\/j.ymgme.2006.12.003_bib13","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1006\/geno.1994.1460","article-title":"IL-2R( gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease","volume":"23","author":"Henthorn","year":"1994","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2006.12.003_bib14","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/S0888-7543(05)80233-2","article-title":"Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison to human ARSB, and gene localization to feline chromosome A1","volume":"14","author":"Jackson","year":"1992","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2006.12.003_bib15","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1093\/jhered\/esg008","article-title":"Second-generation integrated genetic linkage\/radiation hybrid maps of the domestic cat (Felis catus)","volume":"94","author":"Menotti-Raymond","year":"2003","journal-title":"J. Hered."},{"key":"10.1016\/j.ymgme.2006.12.003_bib16","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1006\/geno.1999.5825","article-title":"Molecular basis of feline (-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII","volume":"58","author":"Fyfe","year":"1999","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2006.12.003_bib17","series-title":"Molecular Cloning: A Laboratory Manual","author":"Sambrook","year":"1989"},{"key":"10.1016\/j.ymgme.2006.12.003_bib18","series-title":"PCR Protocols: A Guide to Methods and Applications","first-page":"146","article-title":"Sample preparation from blood cells and other fluids","author":"Kawasaki","year":"1990"},{"key":"10.1016\/j.ymgme.2006.12.003_bib19","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1002\/1097-4598(200009)23:9<1316::AID-MUS2>3.0.CO;2-I","article-title":"Insights into muscle diseases gained by phosphorus magnetic resonance spectroscopy","volume":"23","author":"Argov","year":"2000","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ymgme.2006.12.003_bib20","doi-asserted-by":"crossref","first-page":"3389","DOI":"10.1093\/nar\/25.17.3389","article-title":"Gapped BLAST and PSI-BLAST: a new generation of protein database search programs","volume":"25","author":"Altschul","year":"1997","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2006.12.003_bib21","first-page":"656","article-title":"BLAT---the BLAST-like alignment tool","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res."},{"key":"10.1016\/j.ymgme.2006.12.003_bib22","doi-asserted-by":"crossref","first-page":"W577","DOI":"10.1093\/nar\/gki591","article-title":"DINAMelt web server for nucleic acid melting prediction","volume":"33","author":"Markham","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2006.12.003_bib23","doi-asserted-by":"crossref","first-page":"3406","DOI":"10.1093\/nar\/gkg595","article-title":"Mfold web server for nucleic acid folding and hybridization prediction","volume":"31","author":"Zuker","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2006.12.003_bib24","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1093\/oxfordjournals.molbev.a026361","article-title":"Patterns of diversity among SINE elements isolated from three Y-chromosome genes in carnivores","volume":"17","author":"Slattery","year":"2000","journal-title":"Mol. Biol. Evol."},{"key":"10.1016\/j.ymgme.2006.12.003_bib25","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/S0022-2836(05)80360-2","article-title":"Basic local alignment search tool","volume":"215","author":"Altschul","year":"1990","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.ymgme.2006.12.003_bib26","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1089\/10665270050081478","article-title":"A greedy algorithm for aligning DNA sequences","volume":"7","author":"Zhang","year":"2000","journal-title":"J. Comput. Biol."},{"key":"10.1016\/j.ymgme.2006.12.003_bib27","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1016\/S0092-8674(01)00583-9","article-title":"When the message goes awry: disease-producing mutations that influence mRNA content and performance","volume":"107","author":"Mendell","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.ymgme.2006.12.003_bib28","series-title":"The Principles of Human Biochemical Genetics","author":"Harris","year":"1980"},{"key":"10.1016\/j.ymgme.2006.12.003_bib29","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1002\/humu.10212","article-title":"Human gene mutation database (HGMD): 2003 update","volume":"21","author":"Stenson","year":"2003","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2006.12.003_bib30","first-page":"R437","article-title":"Glucose homeostasis in a carnivore (cat) and in rats feds a high-protein diet","volume":"239","author":"Kettlehut","year":"1980","journal-title":"Am. J. Physiol."},{"key":"10.1016\/j.ymgme.2006.12.003_bib31","series-title":"Control of Glycogen Metabolism","first-page":"203","article-title":"Enzymic control of glycogen structure","author":"Smith","year":"1968"},{"key":"10.1016\/j.ymgme.2006.12.003_bib32","doi-asserted-by":"crossref","first-page":"1739","DOI":"10.1212\/WNL.56.12.1739","article-title":"Surprises of genetic engineering: a possible model of polyglucosan body disease","volume":"56","author":"Raben","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2006.12.003_bib33","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.jmb.2005.02.043","article-title":"Alu retrotransposition-mediated deletion","volume":"348","author":"Callinan","year":"2005","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.ymgme.2006.12.003_bib34","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1007\/s00439-005-1321-0","article-title":"A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease","volume":"117","author":"Chen","year":"2005","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2006.12.003_bib35","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1073\/pnas.0506940103","article-title":"Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog","volume":"103","author":"Clark","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymgme.2006.12.003_bib36","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1006\/mgme.1999.2864","article-title":"Alu repeats and human disease","volume":"67","author":"Deininger","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2006.12.003_bib37","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1093\/hmg\/ddi151","article-title":"SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs","volume":"14","author":"Pele","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2006.12.003_bib38","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1086\/378594","article-title":"An Alu transposition model for the origin and expansion of human segmental duplications","volume":"73","author":"Bailey","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2006.12.003_bib39","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/humu.20133","article-title":"Meta-analysis of gross insertions causing human genetic disease: novel mutation mechanisms and the role of replication slippage","volume":"25","author":"Chen","year":"2005","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2006.12.003_bib40","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1002\/humu.20230","article-title":"Intrachromosomal serial replication slippage in trans give rise to diverse genomic rearrangements involving inversions","volume":"25","author":"Chen","year":"2005","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2006.12.003_bib41","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/sj.gt.3301728","article-title":"Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors","volume":"9","author":"Beaty","year":"2002","journal-title":"Gene Ther."},{"key":"10.1016\/j.ymgme.2006.12.003_bib42","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1002\/mus.880111210","article-title":"Metabolic myopathy in canine muscle-type phosphofructokinase deficiency studied by P\u2013NMR","volume":"11","author":"Giger","year":"1988","journal-title":"Muscle Nerve"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719206003854?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719206003854?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T19:04:49Z","timestamp":1723835089000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719206003854"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,4]]},"references-count":42,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2007,4]]}},"alternative-id":["S1096719206003854"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2006.12.003","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2007,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2006.12.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2006 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}