{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T09:41:43Z","timestamp":1776246103445,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2001,4,1]],"date-time":"2001-04-01T00:00:00Z","timestamp":986083200000},"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":[[2001,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pompe disease is a metabolic myopathy caused by deficiency of lysosomal acid \u03b1\u2010glucosidase. In this report we review the first 36 weeks of a clinical study on the safety and efficacy of enzyme therapy aimed at correcting the deficiency. Four patients with infantile Pompe disease were enrolled. They received recombinant human \u03b1\u2010glucosidase from transgenic rabbit milk. The product is generally well tolerated and reaches the primary target tissues. Normalization of \u03b1\u2010glucosidase activity in skeletal muscle was obtained and degradation of PAS\u2010positive material was seen in tissue sections. The clinical condition of all patients improved. The effect on heart was most significant, with an impressive reduction of the left ventricular mass index (LVMI). Motor function improved. The positive preliminary results stimulate continuation and extension of efforts towards the realization of enzyme therapy for Pompe disease.<\/jats:p>","DOI":"10.1023\/a:1010383421286","type":"journal-article","created":{"date-parts":[[2002,12,23]],"date-time":"2002-12-23T17:41:19Z","timestamp":1040665279000},"page":"266-274","source":"Crossref","is-referenced-by-count":138,"title":["Enzyme therapy for Pompe disease with recombinant human \u03b1\u2010glucosidase from rabbit milk"],"prefix":"10.1002","volume":"24","author":[{"given":"J. M. P.","family":"Van den Hout","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Diseases Sophia Children's Hospital, University Hospital Rotterdam  The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. J. J.","family":"Reuser","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Rotterdam  The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. B. C.","family":"de Klerk","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Diseases Sophia Children's Hospital, University Hospital Rotterdam  The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. F.","family":"Arts","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Sophia Children's Hospital University Hospital Rotterdam  The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. A. M.","family":"Smeitink","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Diseases Sophia Children's Hospital, University Hospital Rotterdam  The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. T.","family":"Van der Ploeg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Diseases Sophia Children's Hospital, University Hospital Rotterdam  The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,4]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1139","article-title":"An electron microscopic and biochemical study of type II glycogenosis","volume":"13","author":"Baudhuin P","year":"1964","journal-title":"Lab Invest"},{"key":"e_1_2_1_3_1","volume-title":"Bayley Scales of Infant Development","author":"Bayley N","year":"1993"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.11.1815"},{"key":"e_1_2_1_5_1","first-page":"184","article-title":"Enzyme replacement in Pompe dis\u2010ease: an attempt with puri\u00a2ed human acid a\u2010glucosidase","volume":"9","author":"De Barsy T","year":"1973","journal-title":"Birth Defects"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.25.1.96"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-122-1-199501010-00005"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj0860011"},{"key":"e_1_2_1_9_1","unstructured":"HirschhornR ReuserAJJ(2000)Glycogen storage disease type II: acid alpha\u2010glucosidase (acid maltase) deficiency. 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