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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Clin Genet
Autori principali: Germain, Dominique P., Fouilhoux, Alain, Decramer, Stéphane, Tardieu, Marine, Pillet, Pascal, Fila, Marc, Rivera, Serge, Deschênes, Georges, Lacombe, Didier
Natura: Artigo
Lingua:Inglês
Pubblicazione: Blackwell Publishing Ltd 2019
Soggetti:
Original Articles
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi