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Wiebke Hoppner

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Lucke T, Hoppner W, Schmidt E, Illsinger S, Das A
Mol Genet Metab . 2004 Apr; 82(1):93-7. PMID: 15110329
Unlabelled: Fabry disease (FD, MIM 301500) caused by a deficient activity of alpha-galactosidase A is characterized by intralysosomal storage of glycosphingolipids. Main clinical features are paresthesia, hypohidrosis, angiokeratoma, renal insufficiency,...