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Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy

INTRODUCTION: Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations of GLA gene leading to reduced α-galactosidase activity and resulting in a progressive accumulation of globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-G...

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Detalles Bibliográficos
Autores principales:	Franzen, Daniel, Haile, Sarah R, Kasper, David C, Mechtler, Thomas P, Flammer, Andreas J, Krayenbühl, Pierre A, Nowak, Albina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2018
Materias:	Orphan Lung Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5922571/ https://www.ncbi.nlm.nih.gov/pubmed/29713479 http://dx.doi.org/10.1136/bmjresp-2018-000277

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