Management of neuronopathic Gaucher disease: Revised recommendations.
Vellodi, A. 1; Tylki-Szymanska, A. 2; Davies, E. H. 3; Kolodny, E. 4; Bembi, B. 5; Collin-Histed, T. 6; Mengel, E. 7; Erikson, A. 8; Schiffmann, R. 9
[Article] Journal of Inherited Metabolic Disease. 32(5):660-664, October 2009.

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Summary: The original guidelines drawn up for the management of the neuronopathic forms of Gaucher disease were felt to be in need of revision; in particular, the role of high-dose enzyme replacement therapy (120 IU/kg of body weight every 2 weeks) in stabilizing neurological disease. The existing published evidence was analysed; it was concluded that it did not support the role of high-dose ERT, although this might be required to treat severe visceral disease.

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