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The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants of the GLA gene. Heterozygous female patients may show much more variability in clinical manifestations, ranging from asymptomatic to full-blown disease. Because of this heterogeneous clinical pict...

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Detalles Bibliográficos
Autores principales:	Furlano, Mónica, Ars, Elisabet, Matamala, Anna, Brossa, Vicens, Martí, Joan, del Prado-Venegas, Maria, Crespi, Jaume, Roe, Esther, Torra, Roser
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9822754/ https://www.ncbi.nlm.nih.gov/pubmed/36619006 http://dx.doi.org/10.1155/2022/3208810

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