Late onset Krabbe disease due to the new GALC p.A1a543Pro mutation, with intriguingly high residual GALC activity in vitro

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作者： Kraegeloh-Mann, Inge ^[1] ; Harzer, Klaus ^[2] ; Rostasy, Kevin ^[3] ; Beck-Woedl, Stefanie ^[4] ; Bornemann, Antje ; Boehringer, Judith ; Bevot, Andrea ; Beck, Verena ; Merkel, Gisela ; Pechan, Maria

作者单位： Univ Tubingen, Dept Med Genet & Appl Genom, Calwerstr 7, D-72076 Tubingen, Germany ^[1] Univ Tubingen, Childrens Hosp, Dept Neuropediat & Neurometab Lab, Hoppe Seyler Str 1, D-72076 ^[2] Univ Witten Herdecke, Childrens Hosp Datteln, Dr Friedrich Steiner Str 5, D-45711 Datteln, Germany ^[3] Univ Tubingen, Div Neuropathol, Dept Pathol, Calwer Str 3, D-72076 Tubingen, Germany ^[4]

关键词 Galactosylceramide degradation Late onset Krabbe disease Mutation introducing proline Residual GALC activity Skin ultrastructure Specific inclusions

发布时间 2017-12-20

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