Blar i forfatter Det helsevitenskapelige fakultet "Amraoui, Yasmina"

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    • Alpha-mannosidosis: Correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation Inherited metabolic diseases 

      Borgwardt, Line; Stensland, Hilde Monica Frostad Riise; Olsen, Klaus Juul; Wibrand, Flemming; Klenow, Helle; Beck, Michael; Amraoui, Yasmina; Arash, Laila; Fogh, Jens; Nilssen, Øivind; Lund, Allan Meldgaard (Journal article; Tidsskriftartikkel; Peer reviewed, 2015-06-06)
      Background: Alpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening and musculoskeletal abnormalities. <p>Methods: To study the genotype-phenotype relationship for alpha-mannosidosis 66 patients were included. Based on the predicted ...