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J Inherit Metab Dis. 2011 Oct;34(5):1053-9. doi: 10.1007/s10545-011-9347-z. Epub 2011 May 28.

Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool.

Author information

1
Institute of Child Health, London, UK. E.Davies@ich.ucl.ac.uk

Abstract

In 2007, the European Task Force for neuronopathic Gaucher disease (NGD) published a review of 55 patients across four countries. Although some observations were possible, analysis was difficult due to the absence of a systematic way of assessing patients. In response to this, a Severity Scoring Tool (SST) was devised to offer a systematic means of assessing the neurological presentation seen. The SST has been modified (mSST) and is a valid tool for monitoring neurological progression. This review describes disease status and progression of neurological manifestations in a cohort of 39 chronic NGD patients across three European countries over a period of 4 years, using the mSST.

PMID:
21626202
DOI:
10.1007/s10545-011-9347-z
[Indexed for MEDLINE]

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