Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

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• 作者：C.I. van Capelle ; L.P.F. Winkel ; M.L.C. Hagemans ; S.K. Shapira ; W.F.M. Arts ; P.A. van Doorn ; W.C.J. Hop ; A.J.J. Reuser ; A.T. van der Ploeg
• 关键词：Pompe disease ; Acid maltase deficiency ; Glycogenosis type 2 ; Enzyme replacement therapy
• 刊名：Neuromuscular Disorders
• 出版年：2008
• 期刊代码：203_09608966
• 类别：med
• 出版时间：June 2008
• 卷：18
• 期：6
• 页码：447-452
• 文件大小：311 K

摘要

Pompe disease (type 2 glycogenosis, acid maltase deficiency) is a disorder affecting skeletal and cardiac muscle, caused by deficiency of acid p://www.sciencedirect.com/scidirimg/entities/204e.gif" alt="greek small letter alpha" title="greek small letter alpha" border="0">-glucosidase. In 2006 enzyme therapy with recombinant human p://www.sciencedirect.com/scidirimg/entities/204e.gif" alt="greek small letter alpha" title="greek small letter alpha" border="0">-glucosidase received marketing approval based on studies in infants. Results in older children and adults are awaited. Earlier we reported on the 3-year follow-up data of enzyme therapy in two adolescents and one adult. In the present study these patients were followed for another 5 years.