A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease-Reference-Cited by-同舟云学术

A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease

Published:2007-09-16 Issue:5 Volume:30 Page:768-782
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Davies E. H.,Surtees R.,DeVile C.,Schoon I.,Vellodi A.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-007-0595-x

Reference28 articles.

1. Abrahamov A, Elstein D, Gross-Tsur V, et al (1995) Gaucher’s disease variant characterised by progressive calcification of heart valve and unique genotype. The Lancet 346: 1000–1003.

2. Altarescu G, Hill S, Wiggs E, et al (2001) The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher’s disease. J Pediatr 138(4): 539–547.

3. Bowling, A (2001) Measuring Disease, 2nd edn. Milton Keynes: Open University Press.

4. DeVellis RF. (1991) Scale Development: Theory and Applications. Newbry Park, CA: Sage Publications.

5. Durling E, Dale N, Davies E, Vellodi A (2006) Understanding the cognitive profile of children with neuronopathic Gaucher disease. Poster presentation. European Working Group on Gaucher Disease, Cambridge July 2006.

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