Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

Fabry disease (FD), a rare X‐linked disease, can be treated with bi‐monthly infusion of enzyme replacement therapy (ERT) to replace deficient α‐galactosidase A (AGAL‐A). ERT reduces symptoms, improves quality of life (QoL), and improves clinical signs and biochemical markers. ERT initiation in child...

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Bibliografische gegevens
Gepubliceerd in:Clin Genet
Hoofdauteurs: Germain, Dominique P., Fouilhoux, Alain, Decramer, Stéphane, Tardieu, Marine, Pillet, Pascal, Fila, Marc, Rivera, Serge, Deschênes, Georges, Lacombe, Didier
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Blackwell Publishing Ltd 2019
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Original Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6852597/
https://ncbi.nlm.nih.gov/pubmed/30941742
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13546
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