{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T05:36:37Z","timestamp":1792733797844,"version":"4.5.0"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2010,1,27]],"date-time":"2010-01-27T00:00:00Z","timestamp":1264550400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","award":["152001005"],"award-info":[{"award-number":["152001005"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Screening of blood films for the presence of periodic acid\u2010Schiff (PAS)\u2010positive lymphocyte vacuoles is sometimes used to support the diagnosis of Pompe disease, but the actual diagnostic value is still unknown. We collected peripheral blood films from 65 untreated Pompe patients and 51 controls. Lymphocyte vacuolization was quantified using three methods: percentage vacuolated lymphocytes, percentage PAS\u2010positive lymphocytes, and a PAS score depending on staining intensity. Diagnostic accuracy of the tests was assessed using receiver operating characteristic (ROC) curves. All three methods fully discerned classic infantile patients from controls. The mean values of patients with milder forms of Pompe disease were significantly higher than those of controls, but full separation was not obtained. The area under the ROC curve was 0.98 for the percentage vacuolated lymphocytes (optimal cutoff value 3; sensitivity 91%, specificity 96%) and 0.99 for the percentage PAS\u2010positive lymphocytes and PAS score (optimal cutoff value 9; sensitivity 100%, specificity 98%). Our data indicate that PAS\u2010stained blood films can be used as a reliable screening tool to support a diagnosis of Pompe disease. The percentage of PAS\u2010positive lymphocytes is convenient for use in clinical practice but should always be interpreted in combination with other clinical and laboratory parameters.<\/jats:p>","DOI":"10.1007\/s10545-009-9027-4","type":"journal-article","created":{"date-parts":[[2010,1,26]],"date-time":"2010-01-26T15:05:17Z","timestamp":1264518317000},"page":"133-139","source":"Crossref","is-referenced-by-count":35,"title":["PAS\u2010positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease"],"prefix":"10.1002","volume":"33","author":[{"given":"Marloes L. C.","family":"Hagemans","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Division of Metabolic Diseases and Genetics Erasmus MC University Medical Center\u2010 Sophia Children's Hospital Rotterdam The Netherlands"},{"name":"Department of Paediatrics, Division of Metabolic Diseases and Genetics Erasmus MC\u2010Sophia Dr. Molewaterplein 60 Rotterdam 3015 GJ The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolinda L.","family":"Stigter","sequence":"additional","affiliation":[{"name":"Department of Paediatric Oncology\/Hematology Erasmus MC University Medical Center\u2010 Sophia Children's Hospital Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carine I.","family":"van Capelle","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Metabolic Diseases and Genetics Erasmus MC University Medical Center\u2010 Sophia Children's Hospital Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine A. 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