The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts

Spada M, Baron R, Elliott PM, Falissard B, Hilz MJ, Monserrat L, Tondel C, Tylki-Szymariska A, Wanner C, Germain DP (2019)


Publication Type: Journal article, Review article

Publication year: 2019

Journal

Book Volume: 126

Pages Range: 212-223

Journal Issue: 3

DOI: 10.1016/j.ymgme.2018.04.007

Abstract

Background: Fabry disease is caused by a deficiency of the lysosomal enzyme alpha-galactosidase, resulting in progressive accumulation of globotriaosylceramide (GL-3). The disease can manifest early during childhood and adolescence. Enzyme replacement therapy (ERT) with recombinant human alpha-galactosidase is the first specific treatment for Fabry disease and has been available in Europe since 2001. This paper presents the findings of a systematic literature review of clinical outcomes with ERT in paediatric patients with Fabry disease.

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APA:

Spada, M., Baron, R., Elliott, P.M., Falissard, B., Hilz, M.-J., Monserrat, L.,... Germain, D.P. (2019). The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts. Molecular Genetics and Metabolism, 126(3), 212-223. https://dx.doi.org/10.1016/j.ymgme.2018.04.007

MLA:

Spada, Marco, et al. "The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts." Molecular Genetics and Metabolism 126.3 (2019): 212-223.

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