Format

Send to

Choose Destination
J Inherit Metab Dis. 2009 Oct;32(5):660-664. doi: 10.1007/s10545-009-1164-2. Epub 2009 Aug 5.

Management of neuronopathic Gaucher disease: revised recommendations.

Author information

1
Metabolic Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, WC1N 3JH, London, UK. VelloA@gosh.nhs.uk.
2
The Children's Memorial Health Institute, Warsaw, Poland.
3
Institute of Child Health, London, UK.
4
Department of Neurology, New York University School of Medicine, New York, NY, USA.
5
Centro di Coordinamento Regionale per le Malattie Rare, Ospedale Universitario, Udine, Italy.
6
Gauchers Association Ltd., Dursley, Gloucestershire, GL11 4NG, UK.
7
Children's Hospital, Medical Center Gutenberg University Mainz, Mainz, Germany.
8
Department of Paediatrics, Umeå University, Umeå, Sweden.
9
Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA.

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.

PMID:
19655269
DOI:
10.1007/s10545-009-1164-2
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center