{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T08:48:41Z","timestamp":1790153321243,"version":"4.0.1"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2003,4,11]],"date-time":"2003-04-11T00:00:00Z","timestamp":1050019200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2003,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pompe's disease (glycogen storage disease type II) is an autosomal recessive myopathy caused by lysosomal \u03b1\u2010glucosidase deficiency. Enzyme replacement therapy (ERT) is currently under development for this disease. We evaluated the morphological changes in muscle tissue of four children with infantile Pompe's disease who received recombinant human \u03b1\u2010glucosidase from rabbit milk for 72 weeks. The patients were 2.5\u20138 months of age at entry. Prior to treatment, all patients showed lysosomal glycogen storage in skeletal and smooth muscle cells, vascular endothelium, Schwann cells, and perineurium. The first response to treatment was noticed in vascular endothelium and in peripheral nerves after 12 weeks of treatment at an enzyme dose of 15\u201320 mg\/kg. Increasing the dose to 40 mg\/kg led, after 72 weeks of treatment, to a reduction of glycogen storage and substantial improvement of muscle architecture in the least affected patient. Not all patients responded equally well, possibly due to differences in degree of glycogen storage and concomitant muscle pathology at the start of treatment. We conclude that intravenous administration of recombinant human \u03b1\u2010glucosidase from rabbit milk can improve muscle morphology in classic infantile Pompe's disease when treatment is started before irreversible damage has occurred. Muscle Nerve 27: 743\u2013751, 2003<\/jats:p>","DOI":"10.1002\/mus.10381","type":"journal-article","created":{"date-parts":[[2003,5,20]],"date-time":"2003-05-20T11:35:04Z","timestamp":1053430504000},"page":"743-751","source":"Crossref","is-referenced-by-count":84,"title":["Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy"],"prefix":"10.1002","volume":"27","author":[{"given":"L\u00e9on P. F.","family":"Winkel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joep H. J.","family":"Kamphoven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannerieke J. M. 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