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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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Klingelhöfer, Doris, Braun, Markus, Seeger‐Zybok, Rebekka K., Quarcoo, David, Brüggmann, Dörthe, Groneberg, David A.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7507033/
https://ncbi.nlm.nih.gov/pubmed/32031327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1163
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