J Inherit Metab Dis. 2009 Oct;32(5):660-4. Epub 2009 Aug 5.

Management of neuronopathic Gaucher disease: revised recommendations.

Vellodi A, Tylki-Szymanska A, Davies EH, Kolodny E, Bembi B, Collin-Histed T, Mengel E, Erikson A, Schiffmann R; European Working Group on Gaucher Disease.

Source

Metabolic Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, WC1N 3JH, London, UK. VelloA@gosh.nhs.uk

Abstract

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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