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BMC Nephrol
November 2023
Department of Nephrology, The Second Affiliated Hospital of Wenzhou Medical University, No. 108 College Road, Wenzhou, 325000, Zhejiang Province, China.
Background: Fabry disease (FD) is an X-linked, hereditary dysfunction of glycosphingolipid storage caused by mutations in the GLA gene encoding alpha-galactosidase A enzyme. In rare cases, FD may coexist with immunoglobulin A nephropathy (IgAN). We describe a case of concurrent FD, IgAN, and dilated cardiomyopathy-causing mutations in the TTN and BAG3 genes, which has not been reported previously.
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