Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group

Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in...

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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: Concolino, D., Amico, L., Cappellini, M.D., Cassinerio, E., Conti, M., Donati, M.A., Falvo, F., Fiumara, A., Maccarone, M., Manna, R., Matucci, A., Musumeci, M.B., Nicoletti, A., Nisticò, R., Papadia, F., Parini, R., Peluso, D., Pensabene, L., Pisani, A., Pistone, G., Rigoldi, M., Romani, I., Tenuta, M., Torti, G., Veroux, M., Zachara, E.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2017
Matèries:
Research Paper
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5484973/
https://ncbi.nlm.nih.gov/pubmed/28702361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.06.005
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