{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T22:52:26Z","timestamp":1772059946227,"version":"3.50.1"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology"],"published-print":{"date-parts":[[1999,3]]},"DOI":"10.1212\/wnl.52.4.851","type":"journal-article","created":{"date-parts":[[2012,5,13]],"date-time":"2012-05-13T13:38:48Z","timestamp":1336916328000},"page":"851-851","source":"Crossref","is-referenced-by-count":66,"title":["A diagnostic protocol for adult-onset glycogen storage disease type II"],"prefix":"10.1212","volume":"52","author":[{"given":"M.G. E. M.","family":"Ausems","sequence":"first","affiliation":[{"name":"From the Center for Medical Genetics (Drs. Ausems and Ploos van Amstel)University Hospital Utrecht; Department of Clinical Genetics (P. Lochman and Drs. van Diggelen and Reuser), Erasmus University, Academic Hospital Rotterdam; and Rudolf Magnus Institute of the Neurosciences (Dr. Wokke), Laboratory of Neuromuscular Disorders and Department of Neurology, University Hospital Utrecht, the Netherlands."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Lochman","sequence":"additional","affiliation":[{"name":"From the Center for Medical Genetics (Drs. Ausems and Ploos van Amstel)University Hospital Utrecht; Department of Clinical Genetics (P. Lochman and Drs. van Diggelen and Reuser), Erasmus University, Academic Hospital Rotterdam; and Rudolf Magnus Institute of the Neurosciences (Dr. Wokke), Laboratory of Neuromuscular Disorders and Department of Neurology, University Hospital Utrecht, the Netherlands."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.P.","family":"van Diggelen","sequence":"additional","affiliation":[{"name":"From the Center for Medical Genetics (Drs. Ausems and Ploos van Amstel)University Hospital Utrecht; Department of Clinical Genetics (P. Lochman and Drs. van Diggelen and Reuser), Erasmus University, Academic Hospital Rotterdam; and Rudolf Magnus Institute of the Neurosciences (Dr. Wokke), Laboratory of Neuromuscular Disorders and Department of Neurology, University Hospital Utrecht, the Netherlands."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.K. Ploos","family":"van Amstel","sequence":"additional","affiliation":[{"name":"From the Center for Medical Genetics (Drs. Ausems and Ploos van Amstel)University Hospital Utrecht; Department of Clinical Genetics (P. Lochman and Drs. van Diggelen and Reuser), Erasmus University, Academic Hospital Rotterdam; and Rudolf Magnus Institute of the Neurosciences (Dr. Wokke), Laboratory of Neuromuscular Disorders and Department of Neurology, University Hospital Utrecht, the Netherlands."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.J. J.","family":"Reuser","sequence":"additional","affiliation":[{"name":"From the Center for Medical Genetics (Drs. Ausems and Ploos van Amstel)University Hospital Utrecht; Department of Clinical Genetics (P. Lochman and Drs. van Diggelen and Reuser), Erasmus University, Academic Hospital Rotterdam; and Rudolf Magnus Institute of the Neurosciences (Dr. Wokke), Laboratory of Neuromuscular Disorders and Department of Neurology, University Hospital Utrecht, the Netherlands."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.H. J.","family":"Wokke","sequence":"additional","affiliation":[{"name":"From the Center for Medical Genetics (Drs. Ausems and Ploos van Amstel)University Hospital Utrecht; Department of Clinical Genetics (P. Lochman and Drs. van Diggelen and Reuser), Erasmus University, Academic Hospital Rotterdam; and Rudolf Magnus Institute of the Neurosciences (Dr. Wokke), Laboratory of Neuromuscular Disorders and Department of Neurology, University Hospital Utrecht, the Netherlands."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","unstructured":"Hirschhorn  R.  Glycogen storage disease type II: acid \u03b1-glucosidase (acid maltase) deficiency.   In:  Scriver  CR Beaudet  AL Sly  W Valle  E eds. The metabolic and molecular bases of inherited disease. 7th ed. New York:McGraw-Hill 1994:2443\u20132464."},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380316"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.47.5.549"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1097\/00007611-199305000-00015"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00546391"},{"key":"e_1_3_2_7_2","first-page":"182","volume":"2","year":"1983","unstructured":"McComas CF, Schochet SS, Morris HH, Romansky SG, Gutmann L. The constellation of adult acid maltase deficiency : clinical, electrophysiologic, and morphologic features. Clin Neuropathol 1983;2:182\u2013187.","journal-title":"Clin Neuropathol"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(89)90050-6"},{"key":"e_1_3_2_9_2","first-page":"440","volume":"47","year":"1990","unstructured":"Martiniuk F, Bodkin M, Tzall S, Hirschhorn R. Identification of the base pair substitution responsible for a human acid alpha glucosidase allele with lower \u201caffinity\u201d for glycogen (GAA2) and transient gene expression in deficient cells. Am J Hum Genet 1990;47:440\u2013445.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1975.tb00629.x"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0303-8467(94)90070-1"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/full\/10.1212\/WNL.52.4.851","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T10:38:10Z","timestamp":1711535890000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.52.4.851"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,3]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1999,3]]}},"alternative-id":["10.1212\/WNL.52.4.851"],"URL":"https:\/\/doi.org\/10.1212\/wnl.52.4.851","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,3]]}}}