{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T21:06:30Z","timestamp":1768079190923,"version":"3.49.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,4,19]],"date-time":"2009-04-19T00:00:00Z","timestamp":1240099200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2009,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Enzyme analysis for Pompe disease in leukocytes has been greatly improved by the introduction of acarbose, a powerful inhibitor of interfering \u03b1\u2010glucosidases, which are present in granulocytes but not in lymphocytes. Here we show that the application of acarbose in the enzymatic assay employing the artificial substrate 4\u2010methylumbelliferyl\u2010\u03b1\u2010<jats:sc>d<\/jats:sc>\u2010glucoside (MU\u2010\u03b1Glc) is insufficient to clearly distinguish patients from healthy individuals in all cases. Also, the ratios of the activities without\/with acarbose only marginally discriminated Pompe patients and healthy individuals. By contrast, when the natural substrate glycogen is used, the activity in leukocytes from patients (<jats:italic>n<\/jats:italic>\u2009=\u200982) with Pompe disease is at most 17% of the lowest control value. The use of artificial substrate in an assay with isolated lymphocytes instead of total leukocytes is a poor alternative as blood samples older than one day invariably yield lymphocyte preparations that are contaminated with granulocytes. To diagnose Pompe disease in leukocytes we recommend the use of glycogen as substrate in the presence of acarbose. This assay unequivocally excludes Pompe disease. To also exclude pseudo\u2010deficiency of acid \u03b1\u2010glucosidase caused by the sequence change c.271G&gt;A (p.D91N or GAA2; homozygosity in approximately 1:1000 caucasians), a second assay employing MU\u2010\u03b1Glc substrate plus acarbose or DNA analysis is required.<\/jats:p>","DOI":"10.1007\/s10545-009-1082-3","type":"journal-article","created":{"date-parts":[[2009,4,21]],"date-time":"2009-04-21T15:22:05Z","timestamp":1240327325000},"page":"416-423","source":"Crossref","is-referenced-by-count":25,"title":["Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates"],"prefix":"10.1002","volume":"32","author":[{"given":"O. P.","family":"van Diggelen","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Centre Rotterdam The Netherlands"},{"name":"Department of Clinical Genetics Erasmus MC PO Box 2040 Ee 2402 Rotterdam 3000 CA The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. F.","family":"Oemardien","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Centre Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. A. M. E.","family":"van der Beek","sequence":"additional","affiliation":[{"name":"Department of Neurology Erasmus University Medical Centre Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. A.","family":"Kroos","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Centre Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. K.","family":"Wind","sequence":"additional","affiliation":[{"name":"Department of Immunology Erasmus University Medical Centre Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y. V.","family":"Voznyi","sequence":"additional","affiliation":[{"name":"Institute of Organic Chemistry Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Burke","sequence":"additional","affiliation":[{"name":"The Enzyme Laboratory, Department of Chemical Pathology Great Ormond Street Hospital London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Jackson","sequence":"additional","affiliation":[{"name":"Supra\u2010regional Assay Service for Genetic Enzyme Defects Guys Hospital London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. G.","family":"Winchester","sequence":"additional","affiliation":[{"name":"Biochemistry Research Group, UCL Institute of Child Health University College London London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. J. J.","family":"Reuser","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Centre Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,4,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31818da91e"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-2222"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2008.107722"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2008.111864"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2008.12.006"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0265-4"},{"key":"e_1_2_6_8_1","first-page":"3389","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Hirschhorn R","year":"2001"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000217785.19262.9e"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.12.006"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2004.035907"},{"key":"e_1_2_6_12_1","first-page":"440","article-title":"Identification of the base\u2010pair substitution responsible for a human acid \u03b1\u2010glucosidase allele with lower \u201caffinity\u201d for glycogen (GAA 2) and transient gene expression in deficient cells","volume":"47","author":"Martiniuk F","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.10.016"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1975.tb00629.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1989.tb01782.x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61555-X"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(90)90339-T"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.006"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000217781.66786.9b"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2008.104711"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1082-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T18:09:48Z","timestamp":1694801388000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-1082-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4,19]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,6]]}},"alternative-id":["10.1007\/s10545-009-1082-3"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-1082-3","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,4,19]]}}}