{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T05:04:21Z","timestamp":1783487061632,"version":"3.55.0"},"reference-count":16,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2017,11]]},"DOI":"10.1016\/j.ymgme.2017.08.007","type":"journal-article","created":{"date-parts":[[2017,8,26]],"date-time":"2017-08-26T02:31:01Z","timestamp":1503714661000},"page":"117-121","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":24,"title":["Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency"],"prefix":"10.1016","volume":"122","author":[{"given":"Nicolai","family":"Preisler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoffer Rasmus","family":"Vissing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0145-1084","authenticated-orcid":false,"given":"Karen Lindhardt","family":"Madsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Heinicke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydia Jane","family":"Sharp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Phillips","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Romain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sun Young","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Newby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phil","family":"Wyrick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Mancias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Galbo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald Gerald","family":"Haller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2017.08.007_bb0005","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1007\/s10545-014-9771-y","article-title":"Exercise in muscle glycogen storage diseases","volume":"38","author":"Preisler","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2017.08.007_bb0010","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1056\/NEJMc0901158","article-title":"Muscle glycogenosis due to phosphoglucomutase 1 deficiency","volume":"361","author":"Stojkovic","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2017.08.007_bb0015","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1007\/s10545-012-9525-7","article-title":"A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene","volume":"36","author":"Perez","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2017.08.007_bb0020","doi-asserted-by":"crossref","first-page":"4151","DOI":"10.1093\/hmg\/dds123","article-title":"Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing","volume":"21","author":"Timal","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2017.08.007_bb0025","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1056\/NEJMoa1206605","article-title":"Multiple phenotypes in phosphoglucomutase 1 deficiency","volume":"370","author":"Tegtmeyer","year":"2014","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2017.08.007_bb0030","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.jpeds.2016.04.021","article-title":"Defining the phenotype and assessing severity in phosphoglucomutase-1 deficiency","volume":"175","author":"Wong","year":"2016","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2017.08.007_bb0035","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1001\/archneur.59.9.1395","article-title":"Spontaneous \u201csecond wind\u201d and glucose-induced second \u201csecond wind\u201d in McArdle disease: oxidative mechanisms","volume":"59","author":"Haller","year":"2002","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ymgme.2017.08.007_bb0040","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1212\/WNL.0000000000001518","article-title":"Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III","volume":"84","author":"Preisler","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2017.08.007_bb0045","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1002\/ana.10725","article-title":"A diagnostic cycle test for McArdle's disease","volume":"54","author":"Vissing","year":"2003","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2017.08.007_bb0050","doi-asserted-by":"crossref","first-page":"E1235","DOI":"10.1210\/jc.2013-1651","article-title":"Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency","volume":"98","author":"Preisler","year":"2013","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ymgme.2017.08.007_bb0055","doi-asserted-by":"crossref","first-page":"2503","DOI":"10.1056\/NEJMoa031836","article-title":"The effect of oral sucrose on exercise tolerance in patients with McArdle's disease","volume":"349","author":"Vissing","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2017.08.007_bb0060","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/j.nmd.2017.01.014","article-title":"PGM1 deficiency: substrate use during exercise and effect of treatment with galactose","volume":"27","author":"Voermans","year":"2017","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ymgme.2017.08.007_bb0065","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/8904_2015_471","article-title":"News on clinical details and treatment in PGM1-CDG","volume":"26","author":"Schrapers","year":"2016","journal-title":"JIMD Rep"},{"key":"10.1016\/j.ymgme.2017.08.007_bb0070","doi-asserted-by":"crossref","first-page":"1545","DOI":"10.1093\/brain\/awp065","article-title":"Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease","volume":"132","author":"Vissing","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2017.08.007_bb0075","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ymgme.2014.06.002","article-title":"Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG","volume":"112","author":"Morava","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.08.007_bb0080","doi-asserted-by":"crossref","DOI":"10.1038\/gim.2017.41","article-title":"Oral D-galactose supplementation in PGM1-CDG","author":"Wong","year":"2017","journal-title":"Genet. Med."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217304079?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217304079?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,7,10]],"date-time":"2022-07-10T01:24:57Z","timestamp":1657416297000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719217304079"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["S1096719217304079"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.08.007","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2017,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.08.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}