{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T13:41:19Z","timestamp":1773236479846,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,12,23]],"date-time":"2009-12-23T00:00:00Z","timestamp":1261526400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004329","name":"Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pompe disease is a rare, autosomal\u2010recessive disorder which results from a defect in the lysosomal enzyme acid \u03b1\u2010glucosidase (GAA). The onset of this disease is highly variable, with infantile types being the most severe. Traditionally, lymphocytes, fibroblasts or muscle biopsies were necessary for enzyme activity measurement, because these materials do not express maltase\u2010glucoamylase (MGA) that interferes with the assay. Recently, acarbose was found to inhibit MGA activity selectively, so that dried blood became accessible for GAA assessment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aim<\/jats:title><jats:p>To evaluate the diagnostic efficacy of GAA measurement in dried blood specimens (DBSs) in comparison with lymphocytes. If DBSs provided reliable results, the diagnosis of Pompe disease could be facilitated, and high\u2010throughput screening would become possible.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>GAA activity was measured in DBSs of known patients at pH 3.8 (with and without acarbose) and at pH 7.0. Additionally, lymphocytes were obtained from the same patients, and the enzyme activity was determined at pH 4 to pH 7. In total, seven infantile patients and 29 patients with late\u2010onset variants were investigated. All patients were reliably identified by both methods. Furthermore, a simplified protocol was established for neonatal screening.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The fluorometric technique for the assessment of GAA activity in DBS provides a reliable diagnosis for all variants of Pompe disease. The assay protocol could be simplified for neonatal screening, without increasing the false positive rate significantly or burdening the laboratory with time\u2010consuming procedures.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-009-9003-z","type":"journal-article","created":{"date-parts":[[2009,12,22]],"date-time":"2009-12-22T08:55:23Z","timestamp":1261472123000},"page":"43-50","source":"Crossref","is-referenced-by-count":32,"title":["Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes\u2014possibility for newborn screening"],"prefix":"10.1002","volume":"33","author":[{"given":"Zoltan","family":"Lukacs","sequence":"first","affiliation":[{"name":"Institute of Clinical Chemistry University Medical Center of Hamburg\u2010Eppendorf Hamburg Germany"},{"name":"Department of Pediatrics University Medical Center of Hamburg\u2010Eppendorf Hamburg Germany"},{"name":"Metabolic Laboratory\/Institute of Clinical Chemistry University Medical Center of Hamburg\u2010Eppendorf Martinistr. 52 Hamburg 20246 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulina","family":"Nieves Cobos","sequence":"additional","affiliation":[{"name":"Institute of Clinical Chemistry University Medical Center of Hamburg\u2010Eppendorf Hamburg Germany"},{"name":"Department of Pediatrics University Medical Center of Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugen","family":"Mengel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Mainz Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralf","family":"Hartung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Mainz Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Beck","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Mainz Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcus","family":"Deschauer","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Halle\u2010Wittenberg Halle Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelika","family":"Keil","sequence":"additional","affiliation":[{"name":"Institute of Clinical Chemistry University Medical Center of Hamburg\u2010Eppendorf Hamburg Germany"},{"name":"Department of Pediatrics University Medical Center of Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e9","family":"Santer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Medical Center of Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,12,23]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"Pompe disease","author":"Baethmann M","year":"2008"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31818da93f"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cccn.2004.04.009"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-2222"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2008.107722"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198004000-00017"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000217785.19262.9e"},{"key":"e_1_2_6_9_1","doi-asserted-by":"crossref","unstructured":"JoshiPR Gl\u00e4serD SchmidtSet al (2008)Molecular diagnosis of German patients with late\u2010onset glycogen storage disease type II.J Inherit Metab 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