AB077. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulation in endomyocardial biopsies before the occurrence of typical pathological changes of Fabry disease

BACKGROUND: Early initiation of enzyme replacement therapy (ERT) could be effective in stabilizing the progression of Fabry disease (FD), and potentially preventing irreversible organ damage. Certain late-onset cardiac FD treatment guidelines suggest performing an endomyocardial biopsy to confirm ty...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Niu, Dau-Ming, Hsu, Ming-Jia, Chang, Fu-Pang, Lu, Yung-Hsiu, Hung, Sheng-Che, Wang, Yu-Chen, Yang, An-Hang, Hsu, Chia-Lin
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2017
Assuntos:
Newborn Screening, Inborn Errors of Metabolism
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641777/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s077
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