Article
Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.
Journal of inherited metabolic disease - 1 Dec 2008
Cox-Brinkman J, van Breemen M J, van Maldegem B T, Bour L, Donker W E, Hollak C E M, Wijburg F A, Aerts J M F G
Abstract excerpt
We report three siblings with Gaucher disease type III, born between 1992 and 2004. During this period, new developments resulted in different potential therapies, changing clinical practice. The two eldest siblings received enzyme replacement therapy (ERT) from the age of 24 and 5 months respectively, later followed by an increase in dosage. ERT was combined with substrate reduction therapy (SRT) from the ages...
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