The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
HMP van den Hout, W Hop, OP van Diggelen… - …, 2003 - publications.aap.org
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. Information on clinical history, physical
examination, and diagnostic parameters was collected. Results. The course of Pompe's …
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. Information on clinical history, physical
examination, and diagnostic parameters was collected. Results. The course of Pompe's …