Article
First 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia.
The American journal of case reports - 6 Aug 2021
Tang Andy Sing Ong, Wong Qi Ying, Pao Lin Ting Ingrid, Selvesten Panting, Yeo Siaw Tze, Chew Lee Ping, Fam Tem Lom, Tan Clare Hui Hong
Abstract excerpt
BACKGROUND No cases of Fabry disease (FD) have been reported thus far in Malaysia. We aimed to report the demographic characteristics, clinical manifestations, molecular results, and treatment outcomes of 2 FD cases. This study was a retrospective review of 2 family clusters of FD on follow-up in Sarawak, Malaysia. CASE REPORT Two index patients were confirmed to have FD. Index patient 1, who had nephrotic-range...
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