A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant

por Sabourdy, Frédérique, Labauge, Pierre, Stensland, Hilde Monica Frostad Riise, Nieto, Michèle, Garcés, Violeta Latorre, Renard, Dimitri, Castelnovo, Giovanni, de Champfleur, Nicolas, Levade, Thierry
Publicado 2009

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

por Borgwardt, Line, Stensland, Hilde Monica Frostad Riise, Olsen, Klaus Juul, Wibrand, Flemming, Klenow, Helle Bagterp, Beck, Michael, Amraoui, Yasmina, Arash, Laila, Fogh, Jens, Nilssen, Øivind, Dali, Christine I, Lund, Allan Meldgaard
Publicado 2015