Article
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
Pediatrics - 1 Aug 2003
van den Hout Hannerieke M P, Hop Wim, van Diggelen Otto P, Smeitink Jan A M, Smit G Peter A, Poll-The Bwee-Tien T, Bakker Henk D, Loonen M Christa B, de Klerk Johannis B C, Reuser Arnold J J, van der Ploeg Ans T
Abstract excerpt
OBJECTIVE: Infantile Pompe's disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies. METHODS: A total of 20 infantile patients diagnosed by the collaborative Dutch centers and 133 cases reported in literature were included in the study....
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