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- W64133749 abstract "textabstract__Abstract__The introduction of enzyme-replacement therapy (ERT) in 2006 has dramatically increased theinterest in Pompe disease. In the three decades following the discovery of acid a-glucosidasedeficiency as cause of the disease by H.G. Hers in 1963 only very few research laboratoriesworld-wide were studying Pompe disease, investigating the genetic background, the moleculardetails of acid alpha-glucosidase deficiency, were cloning the gene, making knockout mousemodels, and developing ERT. After the start of the first clinical trial of ERT in 199914 morecenters got gradually involved and at present over 1,800 patients world-wide are receivingERT. The number of publications on Pompe disease has risen from 2 in 1963 to 140 in 2012.While untreated patients with classic infantile Pompe disease usually die before the ageof one year, the oldest treated patient with classic infantile Pompe disease at Erasmus MCUniversity Medical Center is at present 15 years old. The aims of this thesis were to delineatethe long-term outcome of infants treated with ERT, to identify and evaluate the influenceof prognostic factors on the effect of ERT, and to explore the effects of a higher and morefrequent dosing regimen and of neonatal screening.This first introductory chapter provides information on the incidence and genetics, clinicalspectrum, disease pathology, the natural course, and the diagnosis of Pompe disease. It alsosummarizes the reported effects of ERT and the current limitations that have led to the studiesdescribed in this thesis." @default.
- W64133749 created "2016-06-24" @default.
- W64133749 creator A5023513672 @default.
- W64133749 date "2013-12-11" @default.
- W64133749 modified "2023-09-23" @default.
- W64133749 title "Enzyme-replacement Therapy in Classic Infantile Pompe Disease: Long-term outcome, dosing and the role of antibodies" @default.
- W64133749 hasPublicationYear "2013" @default.
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