Clinical and molecular characterization of an extended family with fabry disease

• Main Authors: Duangrurdee Wattanasirichaigoon, Jisnuson Svasti, James R. Ketudat Cairns, Kanchana Tangnararatchakit, Anannit Visudtibhan, Siriporn Keeratichamroen, Lukana Ngiwsara, Pongsakdi Khowsathit, Tassanee Onkoksoong, Apatsa Lekskul, Dowruang Mongkolsiri, Chanchai Jariengprasert, Cheamchit Thawil, Suwimol Ruencharoen
• Other Authors: Mahidol University
• Format: Article
• Published: 2018
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/23550

Objective: To characterize clinical manifestations, biochemical changes, mutation of alpha-Galactosidase (□-Gal A) gene A (GLA), and functional capability of mutant protein. Material and Method: Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the p...