Intended for healthcare professionals

Fabry disease – the importance of correct and early diagnosis

Fabry disease is a rare genetic disorder associated with early mortality. It is frequently misdiagnosed or not diagnosed until end-organ damage has occurred. Until recently, treatment has been symptomatic but, now that enzyme replacement therapy is available, it is more important than ever to make a correct and early diagnosis.
Dermatology in practice 2003; 11(6): 24–27
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