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

Journal article
(Review article)


Publication Details

Author(s): Spada M, Baron R, Elliott PM, Falissard B, Hilz MJ, Monserrat L, Tondel C, Tylki-Szymariska A, Wanner C, Germain DP
Journal: Molecular Genetics and Metabolism
Publication year: 2019
Volume: 126
Journal issue: 3
Pages range: 212-223
ISSN: 1096-7192


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.


FAU Authors / FAU Editors

Hilz, Max-Josef Prof. Dr. med.
Professur für Neurologie


External institutions
Children's Memorial Health Institute / Instytut "Pomnik - Centrum Zdrowia Dziecka"
École Polytechnique - Université Paris-Saclay
Julius-Maximilians-Universität Würzburg
Universitätsklinikum Schleswig-Holstein (UKSH)
University College London (UCL) (University of London)
University of Bergen
University of Paris 5 - René Descartes / Université Paris V René Descartes
University of Turin / Università degli Studi di Torino (UNITO)


How to cite

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.

BibTeX: 

Last updated on 2019-23-05 at 09:53