{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:47:41Z","timestamp":1787496461690,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":3325,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1995,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We performed a clinical, biochemical, and genetic study in 16 patients from 11 families with adult\u2010onset acid maltase deficiency. All patients were compound heterozygotes and carried the IVS1(\u2013 13T\u2192G) transversion on one allele; the second allele harbored either a deletion of a T at position 525 in exon 2 (7 probands, 64%) or a deletion of exon 18 (1 proband, 9%). Detrioration of handicap was related to age, and decrease in vital capacity to duration of the symptomatic stage. Respiratory insufficiency was never the first manifestation. The levels of activity of serum creatine kinase and of \u03b2\u2010glucosidase in peripheral blood cells or muscle were helpful for the diagnosis, but did not have prognostic value. The adult form of acid maltase deficiency appears to be both clinically and genetically rather homogeneous; decrease of \u03b2\u2010glucosidase activity is the final common pathway leading to destruction of muscle fibers and progression of muscle weakness over a period of years.<\/jats:p>","DOI":"10.1002\/ana.410380316","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T11:27:05Z","timestamp":1104578825000},"page":"450-454","source":"Crossref","is-referenced-by-count":66,"title":["Genotype\u2010phenotype correlation in adult\u2010onset acid maltase deficiency"],"prefix":"10.1002","volume":"38","author":[{"given":"John H. J.","family":"Wokke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margreet G. E. 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