Department-related tasks and organ-targeted therapy in Fabry disease: an interdisciplinary challenge.
The American Journal of Medicine(2010)
摘要
Fabry disease is a rare X-linked storage disorder leading to an accumulation of globotriaosylceramides in all cells carrying lysosomes. As the accumulation occurs in most organs, different medical specialties are involved in the diagnostics and therapy of Fabry disease. With this review of the 3 main specialties (cardiology, nephrology, and neurology) and, in addition, the adjacent specialties (ophthalmology and dermatology), we aim to discuss the division-related responsibilities and want to suggest an organ-related additional therapy besides enzyme replacement therapy.
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关键词
Fabry disease,Interdisciplinary,Monitoring,Treatment
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