Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)

BACKGROUND: In Taiwan, DNA-based newborn screening showed a surprisingly high incidence (1/875 in males and 1/399 in females) of a cardiac Fabry mutation (IVS4 + 919G > A). However, the natural course, long-term treatment outcomes and suitable biomarkers for monitoring the therapeutic outcomes of...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Liu, Hao-Chuan, Lin, Hsiang-Yu, Yang, Chia-Feng, Liao, Hsuan-Chieh, Hsu, Ting-Rong, Lo, Chiao-Wei, Chang, Fu-Pang, Huang, Chun-Kai, Lu, Yung-Hsiu, Lin, Shuan-Pei, Yu, Wen-Chung, Niu, Dau-Ming
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4223723/
https://ncbi.nlm.nih.gov/pubmed/25047006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0111-y
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