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Global research on Fabry's disease: Demands for a rare disease

BACKGROUND: Fabry disease (FD), the second most prevalent lysosomal storage disorder, is classified as a rare disease. It often leads to significant quality of life impairments and premature death. Many cases remain undiagnosed due to the rarity and heterogeneity. Further, costs related to treatment...

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Detalles Bibliográficos
Autores principales: Klingelhöfer, Doris, Braun, Markus, Seeger‐Zybok, Rebekka K., Quarcoo, David, Brüggmann, Dörthe, Groneberg, David A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507033/
https://www.ncbi.nlm.nih.gov/pubmed/32031327
http://dx.doi.org/10.1002/mgg3.1163