{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T01:06:27Z","timestamp":1777424787341,"version":"3.51.4"},"reference-count":21,"publisher":"Elsevier BV","issue":"2-3","license":[{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2010,10]]},"DOI":"10.1016\/j.ymgme.2010.06.017","type":"journal-article","created":{"date-parts":[[2010,7,7]],"date-time":"2010-07-07T08:52:04Z","timestamp":1278492724000},"page":"246-252","source":"Crossref","is-referenced-by-count":38,"title":["Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways"],"prefix":"10.1016","volume":"101","author":[{"given":"Charles R.","family":"Roe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teodoro","family":"Bottiglieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary","family":"Wallace","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erland","family":"Arning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2010.06.017_bb0005","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1002\/ana.410440604","article-title":"Adult Polvglucosan Bodv Disease in Ashkenazi Jewish Patients Carrying the Tyr\"'Ser Mutation in the Glycogen-Branching Enzyme Gene","volume":"44","author":"Lossos","year":"1998","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2010.06.017_bb0010","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1093\/brain\/103.2.315","volume":"103","author":"Robitaille","year":"1980","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2010.06.017_bb0015","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1002\/mus.10520","article-title":"Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome","volume":"29","author":"Klein","year":"2004","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ymgme.2010.06.017_bb0020","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1002\/mus.20384","article-title":"Adult polyglucosan body disease: a case report of a manifesting heterozygote","volume":"32","author":"Ubogu","year":"2005","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ymgme.2010.06.017_bb0025","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/S0960-8966(06)80014-3","article-title":"Polyglucosan body myopathy: a new case","volume":"2","author":"Tonin","year":"1992","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ymgme.2010.06.017_bb0030","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1093\/clinchem\/43.7.1129","article-title":"Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles","volume":"43","author":"Rashed","year":"1997","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2010.06.017_bb0035","series-title":"Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual","first-page":"143","article-title":"Organic acid analysis","author":"Sweetman","year":"1991"},{"key":"10.1016\/j.ymgme.2010.06.017_bb0040","first-page":"9","article-title":"Amino acid analysis, using postcolumn ninhydrin detection, in a biotechnology laboratory","volume":"159","author":"Macchi","year":"2000","journal-title":"Meth. Mol. Biol."},{"key":"10.1016\/j.ymgme.2010.06.017_bb0045","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/0378-4347(91)80407-4","article-title":"Rapid high-performance liquid chromatographic assay for total homocysteine levels in human serum","volume":"565","author":"Ubbink","year":"1991","journal-title":"J. Chromatogr."},{"key":"10.1016\/j.ymgme.2010.06.017_bb0050","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1093\/clinchem\/46.10.1650","article-title":"Determination of S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid by stable-isotope dilution tandem mass spectrometry","volume":"46","author":"Struys","year":"2000","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2010.06.017_bb0055","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.ymgme.2004.05.001","article-title":"Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport","volume":"82","author":"Almeida","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2010.06.017_bb0060","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1373\/49.2.286","article-title":"Determination of choline, betaine, and dimethylglycine in plasma by a high-throughput method based on normal-phase chromatography-tandem mass spectrometry","volume":"49","author":"Holm","year":"2003","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2010.06.017_bb0065","doi-asserted-by":"crossref","first-page":"9","DOI":"10.2337\/diabetes.52.1.9","article-title":"Regulation of glycogen synthase bt glucose and glycogen \u2013 A possible role for AMP-activated protein kinase","volume":"52","author":"Halse","year":"2003","journal-title":"Diabetes"},{"key":"10.1016\/j.ymgme.2010.06.017_bb0070","doi-asserted-by":"crossref","first-page":"9509","DOI":"10.1074\/jbc.M411648200","article-title":"Constitutive activation of GSK3 down regulates glycogen synthase abundance and glycogen deposition in rat skeletal muscle cells","volume":"280","author":"MacAulay","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2010.06.017_bb0075","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1172\/JCI0215311","article-title":"Effective Dietary Treatment of Cardiomyopathy & Rhabdomyolysis in Long-Chain Fat Oxidation Disorders using an Anaplerotic Odd-Chain Triglyceride","volume":"110","author":"Roe","year":"2002","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2010.06.017_bb0080","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.ymgme.2004.09.007","article-title":"Pyruvate Carboxylase Deficiency: Immediate Clinical and Biochemical Improvement with Dietary Triheptanoin","volume":"84","author":"Mochel","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2010.06.017_bb0085","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1007\/s10545-006-0320-1","article-title":"Anaplerotic Molecules: Current and Future","volume":"29","author":"Brunengraber","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"issue":"4","key":"10.1016\/j.ymgme.2010.06.017_bb0090","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1212\/01.wnl.0000318283.42961.e9","article-title":"Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy","volume":"71","author":"Roe","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2010.06.017_bb0095","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1373\/clinchem.2006.085241","article-title":"Folate and methylation status in relation to phosphorylated tau protein (181P) and \u03b2-amyloid (1-42) in cerebrospinal fluid","volume":"53","author":"Obeid","year":"2007","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2010.06.017_bb0100","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1146\/annurev.nutr.26.061505.111156","article-title":"Choline: critical role during fetal development and dietary requirements in adults","volume":"26","author":"Zeisel","year":"2006","journal-title":"Annu. Rev. Nutr."},{"key":"10.1016\/j.ymgme.2010.06.017_bb0105","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/S0014-5793(03)00560-X","article-title":"Management of cellular energy by the AMP-activated protein kinase system","volume":"546","author":"Hardie","year":"2003","journal-title":"FEBS Lett."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719210002520?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719210002520?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,6,6]],"date-time":"2020-06-06T17:58:07Z","timestamp":1591466287000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719210002520"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10]]},"references-count":21,"journal-issue":{"issue":"2-3","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["S1096719210002520"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2010.06.017","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2010,10]]}}}